DNA Immunity & Inflammation

Om detta test – DNA Immunity & Inflammation

Fördelar med testet

• Förstå dina genetiska förutsättningar för immunförsvaret
  Få information om hur genetiska variationer kan påverka immunfunktion och inflammatoriska processer.

• Enkelt salivprov hemma
  Samla in ditt DNA med ett salivprov – inget klinikbesök behövs.

• Omfattande genetisk analys
  Analyserar genetiska faktorer kopplade till bland annat inflammation, autoimmuna tillstånd, allergier och infektionsrelaterade processer.

• Personliga rekommendationer
  Få rekommendationer kring kost, livsstil och kosttillskott baserade på din genetiska profil.

Vad detta test mäter

Testet analyserar genetiska faktorer kopplade till flera delar av immunförsvaret, bland annat:

• Inflammatoriska processer: Genetiska variationer kopplade till kroppens inflammatoriska respons och inflammationsrelaterade markörer.

• Autoimmuna tillstånd: Genetiska predispositioner kopplade till flera autoimmuna och inflammatoriska sjukdomar.

• Allergirelaterade reaktioner: Genetiska faktorer som kan påverka kroppens reaktion på vanliga allergener.

• Infektionsrelaterade processer: Genetiska variationer kopplade till kroppens svar på vissa bakterier, virus och andra mikroorganismer.

• Immunceller och antikroppar: Genetiska faktorer relaterade till olika immunceller, antikroppar och immunförsvarets reglering.

Rapporten innehåller dessutom personliga rekommendationer baserade på din genetiska profil.

Om immunförsvaret och inflammation

Immunförsvaret skyddar kroppen mot infektioner och hjälper till att reglera inflammatoriska processer. Hur immunförsvaret fungerar påverkas av både genetiska faktorer och livsstil.

Genetiska variationer kan bidra till skillnader i hur kroppen reagerar på infektioner, allergener och inflammatoriska processer. Att förstå dessa genetiska förutsättningar kan ge ett bredare perspektiv på den egna hälsan och ligga till grund för mer individanpassade val kring kost och livsstil.

Så fungerar det

1. Beställ ditt testkit.

2. Ta ett salivprov hemma med det medföljande provtagningskitet.

3. Skicka provet till laboratoriet med det medföljande returmaterialet.

4. Ta del av din digitala DNA-rapport inom cirka 3–5 veckor efter att laboratoriet har tagit emot provet.

Om DNA-rapporten

När analysen är klar får du en omfattande DNA-rapport med dina genetiska resultat, lättförståeliga förklaringar och personliga rekommendationer.

Observera att DNA-rapporten levereras på engelska.

Provtagning

Provet tas hemma med ett salivprov. Saliven samlas i det medföljande provröret, som innehåller en stabiliserande lösning för att bevara DNA under transport till laboratoriet.

ISO-certifierat laboratorium och analys

Analysen utförs i ett ISO-certifierat laboratorium med Illumina GSA Microarray, en SNP-genotypningsmetod som används för att analysera ett stort antal genetiska variationer.

Biomarkörer som ingår – DNA Immunity & Inflammation

• NWD2: NWD2 (NACHT and WD Repeat Domain Containing 2): NWD2 (NACHT and WD Repeat Domain Containing 2) is a gene that belongs to a family characterized by NACHT and WD repeat domains. These domains are involved in immune and inflammatory responses. NWD2 is believed to play a role in regulating innate immunity and inflammation. Understanding NWD2 is important for gaining insights into immune system disorde
• MCFD2: MCFD2 (Multiple Coagulation Factor Deficiency 2): MCFD2 is a gene that encodes a protein essential for the transport and proper folding of coagulation factors V and VIII, which are critical for blood clotting. Mutations in MCFD2 can lead to combined factor V and VIII deficiency, a rare bleeding disorder, highlighting its important role in hemostasis and the impact of disrupted protein transport on
• CASS4: CASS4 (Cas Scaffolding Protein Family Member 4): CASS4 is part of the CAS family of scaffolding proteins, involved in integrin signalling and cell migration. It plays a key role in the dynamic reorganisation of the cytoskeleton, facilitating cell movement and invasion. CASS4's participation in signalling pathways related to cell migration and its connection with the extracellular matrix make it si
• H4C13: H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a component of histone H4, a core protein essential for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing a vital role in maintaining genomic stability.
• SRPK2: SRPK2 (SRSF Protein Kinase 2): SRPK2 is a kinase involved in the phosphorylation of serine/arginine-rich proteins, which are components of the spliceosome. It plays a key role in regulating alternative splicing and gene expression. SRPK2 is important for neuronal function and may be linked to neurodegenerative diseases by affecting splicing regulation. Ongoing research explores SRPK2’s role in dis
• BTBD7: BTBD7 (BTB Domain Containing 7) is a protein involved in regulating epithelial-mesenchymal transition (EMT), a vital process in embryonic development, tissue repair, and cancer spread. It helps control cell shape and movement by influencing the cell’s internal structure. Dysregulation of BTBD7 is associated with fibrosis and tumor progression, highlighting its role in tissue remodeling and its pot
• SHROOM3: SHROOM3 (Shroom Family Member 3): SHROOM3 is a gene that encodes a protein involved in regulating cell morphology and architecture. It plays a key role in actin cytoskeleton dynamics, influencing cell shape, migration, and polarity. Dysregulation of SHROOM3 has been associated with kidney disease, fibrosis, and cancer progression, highlighting its importance in both development and disease.
• VWA2: VWA2 (Von Willebrand Factor A Domain Containing 2): VWA2 is a protein involved in organizing the extracellular matrix (ECM) and supporting cell–matrix adhesion. It contains a Von Willebrand factor type A domain, which is commonly linked to protein–protein interactions. VWA2 plays an important role in tissue development, repair, and ECM stability, making it essential for maintaining proper tissue s
• ABO: ABO (ABO Blood Group System):ABO is a gene that determines an individual’s ABO blood group. It encodes enzymes that modify glycoproteins and glycolipids on the surface of red blood cells, resulting in the different blood types (A, B, AB, and O). Variations in this gene are important for blood transfusion compatibility and have also been linked to risks for cardiovascular diseases and certain cance
• TGFA: TGFA (Transforming Growth Factor Alpha): TGFA is a growth factor that binds to the epidermal growth factor receptor (EGFR), triggering a signaling cascade that promotes cell proliferation and differentiation. It plays a key role in the development and repair of epithelial tissues and is involved in cancer development through its ability to stimulate cell growth. Studying TGFA provides insights int
• LRRN1: LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that reflects its role in neural development. It encodes a protein belonging to the leucine-rich repeat family, which is important for protein-protein interactions and the formation and maintenance of neural connections. LRRN1 is significant for understanding neural development and may be implicated in neurodevelopmental disorders.
• MS4A13: MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is a gene that belongs to the MS4A family, which is involved in signal transduction and cellular activation. While the specific role of MS4A13 is not well understood, members of this family are important in immune responses and have been linked to diseases such as Alzheimer’s.
• CNIH3: CNIH3 (Cornichon Family AMPA Receptor Auxiliary Protein 3): CNIH3 is a protein that plays a key role in regulating the trafficking and function of AMPA receptors in the central nervous system. These receptors are essential for fast synaptic transmission. By modulating AMPA receptor activity, CNIH3 contributes to synaptic plasticity, learning, and memory. Dysregulation of CNIH3 is associated with n
• PHYHIPL: PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is linked to the peroxisomal degradation pathway, specifically involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Its role pertains to lipid metabolism and the regulation of cellular lipid balance. Although the precise functions of PHYHIPL are still under investigation, it may contribute to m
• CELF2: CELF2 (CUGBP Elav-Like Family Member 2): CELF2 is a member of the CUG-BP, Elav-like family of RNA-binding proteins, which play essential roles in regulating RNA processing, including alternative splicing, stability, and translation. CELF2 is involved in immune system development and function and has been linked to neurological disorders. Its role in post-transcriptional gene regulation makes it an
• UTP20: UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, an essential part of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is critical for protein synthesis. Dysfunction in UTP20 can impact cell growth and proliferation, with potential links to developmental disorders and cancer.
• CCR3: CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a receptor involved in the recruitment and activation of eosinophils, basophils, and T cells, playing a key role in inflammatory responses and allergic disease pathology. It serves as a primary receptor for eotaxin, a chemokine driving eosinophilic inflammation seen in conditions such as asthma and allergic rhinitis. Dysregulation of CCR3 signaling ca
• SOX4: SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, highlighting its importance in both development and tumorigenesis.
• IL23R: IL23R (Interleukin 23 Receptor): IL23R is a gene that encodes the receptor for interleukin-23 (IL-23), a cytokine involved in immune regulation. The IL23R receptor is mainly present on immune cells, where its activation is essential for the differentiation and function of T helper 17 (Th17) cells, which contribute to inflammatory responses and the development of autoimmune diseases.
• P2RY12: P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for adenosine diphosphate (ADP) that plays a key role in platelet aggregation — an essential process in blood clot formation. It is a primary target for antiplatelet drugs used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for maintaining cardiovascular health and managing clotting disorders.
• AMBRA1: AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key protein that regulates autophagy, the process by which cells degrade and recycle their components. It supports cell survival during stress by working with BECN1 (Beclin 1) to initiate autophagosome formation. Proper function of AMBRA1 is essential for cellular homeostasis, and its dysregulation has been associated with developmental diso
• OR2M3: OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that belongs to the large olfactory receptor family, which is responsible for the sense of smell. These receptors detect volatile odor molecules and are highly diverse, enabling the perception of many different scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a key role in odor detection and si
• BHLHE41: BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor involved in regulating circadian rhythms and sleep. Variations in this gene are linked to the natural short sleep phenotype, where individuals function well with less sleep than average. Studying BHLHE41 may offer insights into sleep disorders and circadian rhythm regulation.
• NVL: NVL (Nuclear VCP-Like): NVL is a member of the AAA-ATPase family involved in several cellular processes, including ribosome biogenesis and the response to cellular stress. It plays a role in maintaining cellular homeostasis and ensuring proper nucleolus function.
• TUB: TUB (Tubby Bipartite Transcription Factor): TUB is a gene that encodes the Tubby bipartite transcription factor, which plays a key role in regulating appetite and body weight. Mutations in TUB have been associated with obesity and retinal degeneration. This gene is particularly important for understanding metabolic disorders and eye diseases, offering insights into the genetic factors underlying o
• PCDH15: PCDH15 (Protocadherin 15): PCDH15 is a gene that encodes a member of the protocadherin family, which plays a key role in cell-cell adhesion and neuronal connectivity. PCDH15 is essential for the proper function of sensory hair cells in the inner ear, and mutations in this gene are associated with hearing impairment and deafness.
• FANCI: FANCI (FA Complementation Group I): FANCI is a key protein in the Fanconi anemia (FA) pathway, essential for DNA repair. It plays a vital role in responding to DNA damage and maintaining genomic stability. Mutations in FANCI can lead to Fanconi anemia, a disorder marked by bone marrow failure, increased cancer risk, and developmental abnormalities.
• PCDH8: PCDH8 (Protocadherin 8):PCDH8 is a gene that encodes a protein from the protocadherin family, which are cell adhesion molecules essential for forming and maintaining neural networks. It plays a key role in synaptic plasticity, important for learning and memory. Dysregulation of PCDH8 has been linked to neurodevelopmental disorders and is also being studied for its potential role in tumor suppressi
• CAVIN1: CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is a key protein required for the formation and function of caveolae — small plasma membrane invaginations involved in processes such as endocytosis and signal transduction. It supports lipid metabolism, endothelial health, and cellular mechanoprotection. Mutations in CAVIN1 are associated with conditions like lipodystrophy and muscular dystrophies, u
• TAMM41: TAMM41 (TAM41 Mitochondrial Translocator Assembly and Maintenance Protein): TAMM41 is a mitochondrial protein involved in phospholipid biosynthesis. It supports the maintenance of mitochondrial membranes and the proper function of the electron transport chain, which is essential for cellular energy production. TAMM41 is studied for its role in mitochondrial physiology and its potential links to me
• ADGRL4: ADGRL4 (Adhesion G Protein-Coupled Receptor L4), also known as ELTD1, is a protein involved in angiogenesis and vascular development. It plays a key role in regulating endothelial cell function and the formation of new blood vessels, influencing processes such as wound healing, cancer progression, and cardiovascular health.
• TNIP1: TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 is a protein that works closely with TNFAIP3 to regulate immune responses by inhibiting NF-kB activation. It plays a key role in maintaining immune balance and preventing autoimmunity. Dysregulation of TNIP1 has been associated with several autoimmune diseases, emphasizing its importance in immune system regulation. Current research explores TNIP1’s pot
• TRPS1: TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor that plays a key role in regulating the growth and development of bone, hair, and connective tissue. Mutations in TRPS1 lead to Tricho-Rhino-Phalangeal Syndrome, which is characterized by craniofacial and skeletal abnormalities. Understanding TRPS1’s function is important for diagnosing and managing this syndrome, wit
• HLA-DRA: HLA-DRA (Major Histocompatibility Complex, Class II, DR Alpha): HLA-DRA is a key gene in the MHC class II complex that plays an essential role in the immune response. It is responsible for presenting peptides from extracellular proteins to T cells. Variations in this gene can influence immune system function and susceptibility to autoimmune diseases.
• TLR1: TLR1 (Toll-Like Receptor 1): TLR1 is a gene that encodes a protein belonging to the toll-like receptor family, which plays a key role in the innate immune system. It recognizes pathogen-associated molecular patterns and helps trigger immune responses. Variations in TLR1 may affect susceptibility to infectious diseases.
• LAMA5: LAMA5 (Laminin Subunit Alpha 5): LAMA5 is a gene that encodes a protein belonging to the laminin family, which is essential for the structure and function of basement membranes in various tissues. Laminins contribute to cell adhesion, differentiation, migration, and signaling. LAMA5 plays an important role in vascular and neural development and has been linked to pathological conditions like cance
• PITX2: PITX2 (Paired Like Homeodomain 2): PITX2 is a transcription factor that plays a crucial role in the development of multiple organ systems, including the eyes, heart, and abdominal organs. It is involved in establishing the body’s left-right asymmetry. Mutations in PITX2 are linked to Axenfeld-Rieger syndrome, a condition that affects the eyes and other organs. Understanding PITX2 is important for
• GFI1: GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a gene that encodes a transcriptional repressor involved in regulating hematopoiesis and immune function. It plays a key role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been associated with immune deficiencies and blood-related cancers, highlighting its import
• ACOXL: ACOXL (Acyl-CoA Oxidase-Like) is a protein related to the acyl-CoA oxidase family, which plays a key role in the β-oxidation of very long-chain fatty acids within peroxisomes. While its exact metabolic function is not yet fully understood, ACOXL is thought to contribute to lipid metabolism and the regulation of fatty acid breakdown. Studying ACOXL may provide insights into metabolic disorders and
• DDI1: DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in key cellular processes such as DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It plays a critical role in responding to DNA damage by acting as a ubiquitin-dependent protease, helping degrade specific proteins to maintain cellular health. Due to its multifunctional roles, DDI1 is important for protecting cell
• ZSCAN31: ZSCAN31 (Zinc Finger And SCAN Domain Containing 31): ZSCAN31 is a member of the zinc finger protein family, which plays a key role in DNA binding and the regulation of gene transcription. While the specific functions of ZSCAN31 are still being studied, zinc finger proteins are essential for developmental processes, cellular differentiation, and the control of gene expression. Research on ZSCAN31 a
• FGFR2: FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds fibroblast growth factors and plays a key role in cell growth, differentiation, and tissue repair. It is essential for normal development, and mutations in FGFR2 are linked to several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being implicated in certain cancers.
• PIK3R1: PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 is a gene that encodes a regulatory subunit of phosphoinositide 3-kinase (PI3K), a key component in signaling pathways that regulate cell growth, proliferation, and survival. Mutations in PIK3R1 are linked to various cancers and serve as targets for cancer therapies. Additionally, it plays a role in insulin signaling and is associate
• MTARC1: MTARC1 (Mitochondrial Amidoxime Reducing Component 1): MTARC1 is a mitochondrial gene that plays a key role in the reduction of N-hydroxylated compounds, a process important for detoxification. It is involved in cellular metabolism and energy production. Changes in MTARC1 can impact mitochondrial function, which is essential for energy generation in cells. Studying MTARC1 is important for understa
• SLC35F2: SLC35F2 (Solute Carrier Family 35 Member F2): SLC35F2 is a protein that belongs to the solute carrier family, responsible for transporting nucleotide sugars across the Golgi membrane. This transport is essential for glycosylation, a process crucial for the proper function of many proteins and lipids. Glycosylation affects cell communication, immune responses, and pathogen recognition. The exact su
• IL4R: IL4R (Interleukin 4 Receptor): IL4R is a receptor for the cytokine interleukin 4 (IL4), which plays a key role in the differentiation of naive T cells into Th2 cells. IL4R signaling is essential for promoting B cell proliferation, antibody production, and the regulation of allergic responses, including IgE production. Dysregulation of this pathway has been linked to asthma, atopic dermatitis, and
• DLEU7: DLEU7 (Deleted in Lymphocytic Leukemia 7) is a gene identified for its potential role in cancer biology, particularly in chronic lymphocytic leukemia (CLL). It is believed to influence key processes such as cell cycle control and programmed cell death (apoptosis). Loss or malfunction of DLEU7 may contribute to cancer development and progression, making it a focus of research for new diagnostic mar
• BMP2: BMP2 (Bone Morphogenetic Protein 2): BMP2 is a member of the TGF-beta superfamily, known for its essential roles in bone and cartilage development. It promotes bone formation and regeneration, making it a key factor in maintaining skeletal health. Dysregulation of BMP2 signaling has been linked to skeletal disorders and cardiovascular disease, highlighting its importance in regenerative medicine a
• COL27A1: COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 is a gene that encodes a collagen protein important for the structure and function of connective tissues. This collagen type plays a key role in cartilage formation and skeletal development. Mutations in COL27A1 have been linked to disorders affecting bone and cartilage, making it a focus of research into musculoskeletal health and potential the
• GSTP1: GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 is an enzyme involved in detoxification processes by conjugating reduced glutathione to a variety of both external and internal compounds. Variations in GSTP1 are linked to susceptibility to cancer and other diseases where detoxification plays a key role.
• ZNF516: ZNF516 (Zinc Finger Protein 516): ZNF516 is a transcriptional regulator that can act as either a repressor or activator in gene expression pathways controlling cell differentiation, proliferation, and apoptosis. It plays a critical role in cardiac development and function, with dysregulation linked to cardiovascular diseases. ZNF516 has also been associated with tumor suppression, making it a pote
• GLRB: GLRB (Glycine Receptor Beta Subunit): GLRB is a gene that encodes a component of the glycine receptor, a chloride channel essential for inhibitory neurotransmission in the spinal cord and brainstem. This receptor is important for regulating motor and sensory functions, and mutations in GLRB can cause neurological conditions such as hyperekplexia, marked by an exaggerated startle reflex.
• DPEP1: DPEP1 (Dipeptidase 1): DPEP1 is involved in the hydrolysis of dipeptides and plays a role in detoxification processes, particularly in the kidneys. It participates in the metabolism of glutathione and leukotrienes, which are important for cellular redox balance and inflammation. Variations in DPEP1 activity can affect drug metabolism and the body's response to inflammatory stimuli. Research on DPE
• GATA2: GATA2 (GATA Binding Protein 2) is a transcription factor that plays a key role in regulating genes involved in blood cell formation (hematopoiesis) and endothelial cell function. It is essential for the development and maintenance of hematopoietic stem cells and the immune system. Mutations in GATA2 are linked to several blood disorders, including GATA2 deficiency, which can cause immunodeficiency
• ZNF770: ZNF770 (Zinc Finger Protein 770) is a member of the zinc finger protein family, known for its roles in DNA binding and regulating gene transcription. ZNF770 is involved in controlling the expression of genes linked to metabolic pathways and has been studied for its potential impact on glucose metabolism and insulin sensitivity. Understanding ZNF770’s function may offer valuable insights into the m
• GSDMB: GSDMB (Gasdermin B): GSDMB is a member of the gasdermin family, involved in regulating cell death and inflammation. It has been linked to susceptibility to asthma and autoimmune diseases. Due to its role in inflammatory responses, GSDMB is considered a potential target for therapeutic interventions in these conditions.
• GDPD5: GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5) is a gene involved in lipid metabolism, particularly in breaking down glycerophosphodiesters into glycerol phosphate and alcohol. This activity supports membrane component turnover and regulates intracellular signaling. GDPD5 plays a role in lipid signaling pathways, with potential implications in metabolic and cardiovascular heal
• IRF4: IRF4 (Interferon Regulatory Factor 4): IRF4 is a transcription factor that plays a key role in the immune response, particularly in regulating the function of B and T lymphocytes. It is essential for the differentiation of immune cells and is involved in the development of autoimmune and inflammatory diseases, as well as certain types of leukemia and lymphoma.
• FLT3: FLT3 (Fms-Like Tyrosine Kinase 3): FLT3 is a receptor tyrosine kinase involved in the proliferation and differentiation of hematopoietic stem cells into mature blood cells. Mutations in FLT3, especially activating mutations, are commonly seen in acute myeloid leukemia (AML) and are linked to poor prognosis. Targeting FLT3 with inhibitors is a therapeutic approach used to treat AML and other blood
• TRIB1: TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. TRIB1 plays key roles in regulating multiple cellular signaling pathways, including those involved in growth, metabolism, and inflammation. It has been linked to lipid metabolism, cardiovascular health, and cancer, with its complex functions continuing to be an active area of rese
• HLA-C: HLA-C (Human Leukocyte Antigen C): HLA-C is a gene that encodes a protein belonging to the MHC class I family, which plays a vital role in the immune system by presenting peptide antigens to CD8+ T cells. It also helps regulate natural killer (NK) cell activity through interactions with KIR receptors. The expression and diversity of HLA-C influence immune response effectiveness, impacting suscepti
• CYP2C9: CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a crucial role in metabolizing many drugs and natural compounds in the body. It helps the liver detoxify and clear these substances. Variations in the CYP2C9 gene can affect how individuals process medications, impacting drug effectiveness and side effects, which is important for personalized medicine and dosing decisio
• SHPRH: SHPRH (SNF2 Histone Linker PHD RING Helicase) is a gene that encodes a DNA helicase involved in repairing DNA damage and maintaining genomic stability. It plays a key role in the DNA damage response by helping fix double-strand breaks, which prevents mutations that could lead to cancer. SHPRH is recognized as a tumor suppressor, with mutations linked to higher risks of various cancers.
• MST1: MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, essential cells of the immune system. It contributes to inflammation and immune defense and has been linked to the development of autoimmune disorders and certain cancers.
• HLA-DQA1: HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): HLA-DQA1 is a key component of the MHC class II molecule complex. It plays an essential role in the immune system by presenting peptide antigens to CD4+ T cells. This function is critical for triggering the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are linked to susceptibility to autoimmune diseases like type 1
• PDIA5: PDIA5 (Protein Disulfide Isomerase Family A, Member 5): PDIA5 is involved in the folding and maturation of proteins within the endoplasmic reticulum, playing a key role in ensuring proper protein conformation and function. It aids in the formation and rearrangement of disulfide bonds, crucial for protein stability. Dysregulation of PDIA5 can lead to protein misfolding diseases and has been implica
• TGFB2: TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine that plays a key role in regulating cell growth, proliferation, differentiation, and apoptosis. It is essential for embryonic development and tissue repair and has been linked to various conditions, including cancer and fibrotic diseases.
• STEAP1B: STEAP1B (STEAP Family Member 1B) is a protein belonging to the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family. It is involved in metalloreduction, specifically the reduction of iron and copper ions. STEAP1B plays a role in regulating cellular iron homeostasis and metabolism, which are essential for numerous physiological functions. While its precise role in human health and di
• AKNA: AKNA (AT-Hook Transcription Factor) is a gene that encodes a transcription factor involved in regulating immune function, particularly in lymphoid cell development. It helps control the expression of genes related to cell growth and differentiation. Dysregulation of AKNA has been linked to autoimmune conditions and lymphomas, highlighting its role in immune regulation and cancer.
• MACROD2: MACROD2 (MACRO Domain Containing 2): MACROD2 is a gene involved in the ADP-ribosylation process, a post-translational modification important for DNA repair, gene expression, and signal transduction. It plays a role in regulating genomic stability and cellular responses to stress. Alterations in MACROD2 have been linked to various cancers and neurological disorders, highlighting its significance in
• SLC1A7: SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter primarily involved in the removal of glutamate from the synaptic cleft. Its role is crucial in preventing excitotoxicity, a condition where excessive glutamate causes neuronal damage. Although it is less studied than other glutamate transporters, SLC1A7 contributes to the regulation of glutamatergic signalin
• NQO1: NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that helps protect cells from oxidative stress by converting quinones into less reactive hydroquinones. This process reduces the formation of harmful reactive oxygen species and supports cellular redox balance. Variations in the NQO1 gene have been associated with cancer risk and increased sensitivity to certain toxins, highlighting its rol
• JAML: JAML (Junctional Adhesion Molecule Like) is a cell adhesion molecule that plays a key role in regulating the movement of leukocytes across epithelial and endothelial barriers. This process is essential for immune response, allowing immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-cell interactions critical for inflammation and immune surveill
• SPATA2: SPATA2 (Spermatogenesis Associated 2): SPATA2 is a protein involved in regulating cell death and inflammation through its role in the TNF receptor signaling pathway. It helps recruit key enzymes to signaling complexes, which are essential for activating cell death and inflammatory responses. Research on SPATA2 focuses on understanding its role in spermatogenesis, cell death, and inflammation, with
• P2RY1: P2RY1 (Purinergic Receptor P2Y1): P2RY1 is a G-protein coupled receptor that responds to extracellular nucleotides like ATP and ADP. It plays a key role in intracellular signaling pathways involved in platelet aggregation, regulation of vascular tone, and neurotransmission. Activation of P2RY1 is essential for triggering platelet aggregation following vessel injury, highlighting its importance in
• SLC22A5: SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that functions as a key carnitine transporter in the body. It facilitates the cellular uptake of carnitine, a compound essential for moving fatty acids into mitochondria for energy production. This process is critical for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene
• ENPEP: ENPEP (Glutamyl Aminopeptidase) is a gene that encodes an enzyme involved in regulating blood pressure and fluid balance. It functions within the angiotensin pathway by processing angiotensin II, a molecule that causes blood vessels to constrict. Changes in ENPEP activity have been linked to hypertension and cardiovascular conditions, making it a focus of research in vascular health.
• MORC4: MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is a gene involved in chromatin remodeling and the regulation of gene expression. It plays important roles in cellular processes such as DNA repair and apoptosis. Mutations or dysfunctions in MORC4 may be associated with various cancers and developmental disorders, making it a key focus in research on gene regulation and cancer biology.
• EHD3: EHD3 (EH-Domain Containing 3): EHD3 is a member of the EHD protein family involved in endocytic recycling. It plays a key role in the trafficking and recycling of membrane proteins back to the plasma membrane, maintaining proper cell surface composition and signaling. EHD3’s function in membrane trafficking is essential for cardiovascular health, and its dysregulation has been linked to heart dise
• FAM216B: FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a gene about which limited information is available. Genes in the FAM216 family are thought to participate in various cellular processes, but the exact function and role of FAM216B in human health and disease remain largely uncharacterized.
• PHF14: PHF14 (PHD Finger Protein 14): PHF14 is a gene that encodes a protein containing a PHD finger domain. This suggests a role in chromatin-mediated regulation of gene expression. PHF14 may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 has been linked to developmental disorders and various cancers.
• HLA-A: HLA-A (Human Leukocyte Antigen A): HLA-A is a gene that encodes an MHC class I protein responsible for presenting peptide antigens to CD8⁺ T cells. It plays a key role in immune defense against pathogens and tumor cells. Variations in HLA-A can affect susceptibility to infections, autoimmune diseases, and transplant rejection, making it important in immune regulation and a potential target for imm
• LGSN: LGSN (Lengsin): LGSN is a lens-specific protein involved in maintaining and regenerating the lens in the eye. It plays a key role in preserving the transparency and refractive properties of the lens. Mutations in LGSN are linked to cataract formation, highlighting its importance in eye health and lens development.
• REL: REL (REL Proto-Oncogene, NF-KB Subunit): REL is a member of the NF-κB family of transcription factors that regulate immune responses, inflammation, cell growth, and survival. It controls the expression of genes involved in cell proliferation and apoptosis, and its abnormal activity has been linked to inflammatory diseases and certain cancers, especially lymphomas.
• VLDLR: VLDLR (Very Low Density Lipoprotein Receptor): VLDLR is a protein involved in lipid metabolism, responsible for mediating the uptake of triglyceride-rich lipoproteins into cells for energy use or storage. It also plays a vital role in neuronal migration and cerebellar development. Mutations in VLDLR can lead to dysequilibrium syndrome, a rare genetic disorder marked by cerebellar hypoplasia and co
• NCK2: NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that connects receptor tyrosine kinases to signaling pathways controlling cell growth, movement, and cytoskeletal organization. It is involved in multiple signaling networks that help cells respond to external cues. Dysregulation of NCK2 has been linked to cancer progression and metastasis, underscoring its role in cell signaling and tumor developmen
• TNFSF18: TNFSF18 (TNF Superfamily Member 18): TNFSF18 is a molecule that reflects the regulation of immune responses in the body. Also known as GITR ligand, it binds to GITR on T cells and regulatory T cells, promoting effector T cell activity while suppressing regulatory T cell function. This dual role makes TNFSF18 a key target in cancer immunotherapy and autoimmune disease treatment.
• IFNA13: IFNA13 (Interferon Alpha 13): IFNA13 is a cytokine from the interferon alpha family, which plays a key role in immune defense against viral infections and tumor growth. It activates the innate immune system, triggering genes that block viral replication, boost cell-mediated immunity, and promote the apoptosis of infected or cancerous cells. Its functions in antiviral defense and cancer immunothera
• HP1BP3: HP1BP3 (Heterochromatin Protein 1 Binding Protein 3) is a gene that encodes a protein involved in chromatin structure and gene regulation. It interacts with components of heterochromatin, playing a role in genomic stability, DNA repair, and gene silencing. HP1BP3 may influence cellular differentiation and has potential implications in diseases such as cancer, where these processes are often disrup
• FMN2: FMN2 (Formin 2): FMN2 is a protein involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a key role in cell division, movement, and morphogenesis, supporting the structural integrity and dynamic remodeling of the cytoskeleton. FMN2 is essential during cell division and nervous system development, and mutations in the FMN2 gene have been linked to impaired
• ATP2B2: ATP2B2 (ATPase Plasma Membrane Ca²⁺ Transporting 2) is a gene that encodes a calcium pump responsible for regulating intracellular calcium levels. This pump plays a key role in various cellular processes such as signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been associated with hearing loss and vestibular disorders, highlighting its importance in m
• CSGALNACT1: CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): CSGALNACT1 is a gene that plays a key role in the biosynthesis of chondroitin sulfate, an essential component of the extracellular matrix in cartilage. It is important for cartilage development and proper joint function, and changes in its activity have been linked to skeletal disorders and joint diseases.
• CXCL5: CXCL5 (C-X-C motif chemokine ligand 5) is a signaling protein that helps recruit neutrophils — a type of white blood cell — to areas of inflammation or injury. It plays a key role in the body’s innate immune defense and contributes to inflammatory processes in conditions ranging from infections to chronic inflammatory diseases. CXCL5 is also linked to cancer progression, where it can promote tumor
• DDX58: DDX58 (DExD/H-Box Helicase 58), also known as RIG-I, is a protein that acts as a receptor in the innate immune system. It detects viral RNA and helps trigger the body’s early antiviral response by promoting the production of interferons and inflammatory signals. DDX58 is essential for recognizing and fighting many types of RNA viruses.
• HCN4: HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is a vital protein that forms part of the cardiac pacemaker channels responsible for controlling heart rhythm. It plays a key role in generating and regulating the pacemaker current, which influences heart rate and cardiac output. Mutations in HCN4 are linked to various cardiac arrhythmias, such as bradycardia and
• CNR2: CNR2 (Cannabinoid Receptor 2): CNR2 is a G protein-coupled receptor that binds cannabinoids and is mainly expressed in the immune system. It plays a key role in regulating immune responses, inflammation, and pain. Activation of CNR2 can produce anti-inflammatory and immunosuppressive effects, making it an important target for treating inflammatory diseases, pain, and conditions requiring immune mo
• FAM53A: FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in the regulation of cell proliferation and may play a role in cell development and differentiation. Although its function has been less studied, it appears to be crucial for normal cellular functions and possibly for maintaining cell integrity. Ongoing research aims to clarify its precise roles and how its regulatory disturb
• COL13A1: COL13A1 (Collagen Type XIII Alpha 1 Chain): COL13A1 encodes a transmembrane collagen involved in the structure and function of connective tissues. It supports cell adhesion, maintains muscle integrity, and stabilizes the neuromuscular junction. Changes in COL13A1 activity are linked to muscle disorders and are being investigated in relation to connective tissue diseases and cancer spread.
• NFKBIE: NFKBIE (NF-Kappa-B Inhibitor Epsilon):NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune disease
• ADAMTS8: ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8) is an enzyme involved in remodeling the extracellular matrix, which is essential for tissue development and repair. It plays a role in regulating angiogenesis and may act to inhibit tumor growth and the spread of cancer. Research on ADAMTS8 explores its impact on cancer progression and vascular diseases.
• PRICKLE1: PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is a gene involved in the planar cell polarity pathway, which coordinates the orientation of cells within tissue planes. It plays an important role in neural development and function. Mutations in PRICKLE1 have been linked to epilepsy and neurodevelopmental disorders.
• ATXN1: ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, especially those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder marked by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatme
• PRSS1: PRSS1 (Protease, Serine 1): PRSS1 is a gene that encodes trypsin, a digestive enzyme produced in the pancreas. Trypsin plays a key role in digestion by breaking down proteins. Mutations in PRSS1 can cause hereditary pancreatitis, a condition marked by repeated episodes of pancreatic inflammation. Understanding PRSS1 is important for insights into pancreatic function and managing pancreatic disorde
• KIF17: KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that moves cargo along microtubules, playing a critical role in intracellular transport, especially in neurons. It is essential for the anterograde transport of molecules like NMDA receptors to synaptic sites, influencing synaptic plasticity and memory formation. Dysregulation of KIF17 has been associated with neurological disorders, highl
• SH3PXD2A: SH3PXD2A (SH3 And PX Domains 2A, also known as TKS5): SH3PXD2A is a scaffold protein that plays a key role in the formation of podosomes and invadopodia — cellular structures involved in tissue remodeling, cell migration, and invasion. It is important in cancer metastasis and angiogenesis by aiding the breakdown of the extracellular matrix. SH3PXD2A’s role in cellular movement and environmental in
• SHQ1: SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a gene that encodes a protein essential for the assembly of H/ACA ribonucleoproteins (RNPs). These RNPs are involved in processing and modifying RNA, including the maturation of rRNA, snRNA, and stabilizing the telomerase RNA component (TERC). SHQ1 plays a key role in the biogenesis of H/ACA RNPs, which are critical for proper cell func
• IL5RA: IL5RA (Interleukin 5 Receptor Alpha): IL5RA is a component of the receptor for interleukin 5, a cytokine involved in the growth and differentiation of eosinophils. It plays an important role in immune responses, especially in allergic reactions and asthma, where eosinophils act as key effector cells. Targeting IL5RA is a therapeutic approach for diseases with eosinophilia, offering potential treat
• IL1RL1: IL1RL1 (Interleukin 1 Receptor Like 1): IL1RL1 is a receptor for interleukin-33 (IL-33), a cytokine involved in inflammation and allergic responses. Also known as ST2, IL1RL1 mediates IL-33’s effects in the immune system and plays a key role in conditions such as asthma, atopic dermatitis, and other allergic diseases. Its involvement in the IL-33 signaling pathway makes it a potential target for t
• FAR1: FAR1 (Fatty Acyl-CoA Reductase 1): FAR1 is a gene that encodes an enzyme responsible for converting fatty acyl-CoA into fatty alcohols, an essential step in producing wax esters and other complex lipids. These lipids contribute to cell membrane structure and help protect cells from environmental stress. FAR1’s role in lipid metabolism is linked to skin barrier function, lipid storage disorders, an
• NMRK1: NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that plays a key role in the NAD+ biosynthesis pathway by catalyzing the conversion of nicotinamide riboside to nicotinamide mononucleotide. NAD+ is essential for energy metabolism, DNA repair, and cellular signaling. Through its role in NAD+ production, NMRK1 is important for maintaining cellular energy balance and genomic stability, with
• B3GNTL1: B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is an enzyme involved in the biosynthesis of complex carbohydrates, specifically contributing to the formation of glycosaminoglycans, key components of the extracellular matrix. These enzymes play important roles in cell communication, signaling, and maintaining structural integrity. Although the full biological functions of B3GNTL
• GRM1: GRM1 (Glutamate Receptor, Metabotropic 1): GRM1 is a receptor for glutamate, the primary excitatory neurotransmitter in the nervous system. It plays a key role in regulating synaptic plasticity, learning, and memory. GRM1 is involved in multiple neural pathways and has been linked to neurological and psychiatric disorders such as epilepsy, schizophrenia, and neurodegenerative diseases. Its functio
• SVEP1: SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule that supports the development of the cardiovascular and lymphatic systems. It is involved in cell-cell interactions and signaling pathways essential for vascular stability and immune function. Variations in SVEP1 have been associated with cardiovascular conditions and may influence
• CDH23: CDH23 (Cadherin-related 23): CDH23 encodes a protein that is part of the cadherin superfamily, known for its role in cell-cell adhesion. CDH23 is particularly important for the structure and function of the hair cells in the inner ear, which are responsible for hearing and balance. Mutations in CDH23 are associated with Usher syndrome and non-syndromic hearing loss, highlighting its significance f
• LMNB1: LMNB1 (Lamin B1): LMNB1 is a gene that encodes Lamin B1, a key component of the nuclear lamina — a fibrous layer that supports the inner nuclear membrane. Lamin B1 plays important roles in DNA replication, chromatin organization, and gene expression regulation. Changes in LMNB1 expression or mutations have been linked to developmental disorders and diseases, including laminopathies and premature a
• EPHA5: EPHA5 (EPH Receptor A5): EPHA5 is a member of the ephrin receptor subfamily of protein-tyrosine kinases, which are key players in developmental processes, especially within the nervous system. It interacts with specific ligands to regulate neuronal migration and axon guidance. Disruption of EPHA5 signaling has been linked to neurodevelopmental disorders and certain cancers, making it a focus of re
• SLC44A1: SLC44A1 (Solute Carrier Family 44 Member 1) is a gene that encodes a protein responsible for transporting choline, an essential nutrient involved in producing the neurotransmitter acetylcholine and maintaining cell membrane structure. This transporter supports key processes like nerve signaling and cell health. Disruptions in choline transport may affect brain function and have been linked to neur
• FCGR3A: FCGR3A (Fc Fragment Of IgG Receptor IIIa): FCGR3A, also known as CD16a, is a receptor that binds to the Fc region of immunoglobulin G (IgG). It is expressed on natural killer cells, macrophages, and some T cells, where it mediates antibody-dependent cellular cytotoxicity (ADCC) and aids in clearing pathogens and antibody-coated cells. Variations in FCGR3A can influence autoimmune disease risk and
• SLC25A34: SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 is part of the solute carrier family, which is responsible for transporting various molecules across cellular membranes. While the exact function of SLC25A34 is not fully understood, members of this family play key roles in metabolic processes and maintaining cellular homeostasis. Research on this gene may offer important insights into metabo
• ITGB8: ITGB8 (Integrin Subunit Beta 8): ITGB8 is a protein involved in cell adhesion and signal transduction, mediating interactions between cells and the extracellular matrix. It plays a key role in tissue remodeling, angiogenesis, and brain development by facilitating the activation of transforming growth factor-beta (TGF-beta), a cytokine that regulates cell proliferation, differentiation, and other c
• APOBEC1: APOBEC1 (Apolipoprotein B mRNA Editing Enzyme, Catalytic Polypeptide 1) is an RNA-editing enzyme that modifies apolipoprotein B (apoB) mRNA, producing a shorter form of the protein in the intestine. This editing process is essential for lipid metabolism and the formation of lipoproteins. Dysregulation of APOBEC1 may impact cholesterol balance and is linked to studies on cardiovascular and lipid-re
• TTC39C: TTC39C (Tetratricopeptide Repeat Domain 39C): TTC39C is a gene that encodes a protein belonging to the tetratricopeptide repeat family, involved in various cellular processes including the regulation of cholesterol metabolism and transport. While its specific role is less well characterized, TTC39C is being studied for potential involvement in lipid homeostasis and metabolic disorders such as obes
• IL12B: IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumors.
• CHAT: CHAT (Choline Acetyltransferase): CHAT is the enzyme responsible for producing acetylcholine, a key neurotransmitter in both the peripheral and central nervous systems. Acetylcholine plays an essential role in muscle contraction, heart rate regulation, memory, and learning. Alterations in CHAT activity that disrupt acetylcholine synthesis are linked to neurological disorders such as Alzheimer’s di
• THEMIS2: THEMIS2 (Thymocyte Selection Associated Family Member 2): THEMIS2 is a gene primarily expressed in immune cells and involved in regulating innate immune responses. It participates in signaling pathways that influence the activation and function of macrophages and B cells. Its role in immune regulation points to potential involvement in inflammatory diseases and makes it a possible target for modul
• IRX2: IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor belonging to the Iroquois homeobox gene family. It plays a key role in embryonic development by regulating the patterning and formation of tissues such as the heart and nervous system. Dysregulation of IRX2 has been linked to developmental disorders and may also contribute to cancer.
• PPP2R3C: PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): PPP2R3C is a gene that encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex. PP2A is a serine/threonine phosphatase involved in controlling cell growth and division. PPP2R3C modulates PP2A activity, affecting key signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its function is
• RHOBTB1: RHOBTB1 (Rho-Related BTB Domain Containing 1): RHOBTB1 is a member of the Rho GTPase family, involved in regulating diverse cellular processes such as cytoskeletal organisation, cell cycle progression, and gene expression. Unlike typical Rho GTPases, it has a distinctive structure that suggests roles in vesicular trafficking and signal transduction. Dysregulation of RHOBTB1 has been linked to cert
• ARHGAP32: ARHGAP32 is a protein that regulates the activity of Rho GTPases, important molecules involved in controlling cell shape, movement, and attachment. By influencing the dynamics of the actin cytoskeleton, ARHGAP32 plays a key role in processes such as cell migration and proliferation. Its function is especially relevant in neurological development and disorders, as well as in cancer, where cell migr
• IKZF2: IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor essential for T-cell development and differentiation. It helps maintain regulatory T cell identity and supports immune tolerance. Dysregulation of IKZF2 has been linked to immune disorders and is being studied for its potential role in cancer immunotherapy.
• GFI1B: GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a key role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping maintain a balance between cell growth and maturation. Dysregulation of GFI1B is associated with blood disorders such as anemia and thrombocytopenia, and it als
• FCRL6: FCRL6 (Fc Receptor-Like 6): FCRL6 is a gene that encodes a protein expressed on specific T cells and natural killer (NK) cells, where it helps regulate immune responses. It may influence how these cells respond in the context of infection, autoimmune conditions, and cancer. Research on FCRL6 is exploring its potential as a target for therapies aimed at improving immune regulation.
• TENT5A: TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. Although its specific functions are still being studied, TENT5A may influence important cellular processes.
• GSDMC: GSDMC (Gasdermin C): GSDMC is a member of the gasdermin family, known for its role in pyroptosis — a form of programmed cell death linked to inflammation. While the exact functions of GSDMC are less understood compared to other gasdermins, it is thought to be involved in epithelial cell differentiation and may have a role in cancer development. Studying GSDMC can offer important insights into infl
• ADARB2: ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme in the adenosine deaminase family involved in RNA editing. It catalyzes the conversion of adenosine to inosine in RNA molecules, a post-transcriptional modification that can alter RNA sequences, affecting their structure, function, and regulation of gene expression.
• FLNB: FLNB (Filamin B): FLNB is a gene that encodes a protein essential for cross-linking actin filaments in the cytoskeleton. This protein plays a key role in maintaining the structure and function of cells. Mutations in FLNB lead to a group of skeletal disorders called filaminopathies, which include conditions such as spondylocarpotarsal synostosis syndrome and Larsen syndrome, characterized by skelet
• PLAUR: PLAUR (Plasminogen Activator, Urokinase Receptor) is a gene that encodes a receptor involved in proteolysis and cell movement. It supports tissue remodeling and wound healing by aiding the conversion of plasminogen to plasmin, an enzyme that breaks down fibrin and extracellular matrix components. Elevated PLAUR levels have been associated with tumor growth and metastasis, highlighting its role in
• POLR3A: POLR3A (RNA Polymerase III Subunit A): POLR3A is a key subunit of RNA polymerase III, the enzyme responsible for producing small RNAs such as tRNAs, 5S rRNA, and other non-coding RNAs. It plays an essential role in transcribing genes needed for protein synthesis and other vital cellular processes. Mutations in POLR3A have been associated with neurological diseases and developmental disorders, high
• CSMD3: CSMD3 (CUB And Sushi Multiple Domains 3) is a gene that encodes a protein involved in cell adhesion and signaling. It also plays a role in regulating immune responses and neuronal development. Ongoing research is focused on understanding how CSMD3 contributes to conditions such as cancer and neurodevelopmental disorders.
• SPINT2: SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2) is a gene that encodes a serine protease inhibitor involved in regulating key cellular processes such as growth, migration, and invasion. Also known as HAI-2, SPINT2 helps control proteolytic activity—particularly by inhibiting matriptase, a protease important for epithelial integrity and signaling. Disruption of SPINT2 function has been linked to
• C10ORF67: C10ORF67 (Chromosome 10 Open Reading Frame 67), also known as SASP, is a gene involved in regulating cell proliferation and migration. While its exact molecular function remains unclear, it is linked to signaling pathways that influence cellular senescence and the senescence-associated secretory phenotype (SASP). This connection highlights its potential importance in aging, cancer development, and
• MT1X: MT1X (Metallothionein 1X): MT1X is a member of the metallothionein family, proteins that play key roles in metal ion balance and detoxification, as well as protecting cells from oxidative stress. Metallothioneins bind heavy metals, helping to neutralize their toxicity and support their metabolism and elimination. MT1X, like other metallothioneins, is involved in responses to heavy metal exposure,
• CDC5L: CDC5L (Cell Division Cycle 5-Like): CDC5L plays a crucial role in regulating cell cycle progression and pre-mRNA splicing. It is part of a complex involved in maintaining genomic stability and ensuring proper chromosome segregation during cell division. Mutations or changes in CDC5L expression can disrupt cell cycle control, leading to cellular abnormalities and potentially contributing to cancer
• FRA10AC1: FRA10AC1 (Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Or FRA10A Candidate 1): FRA10AC1 is a gene associated with a rare fragile site on chromosome 10. Fragile sites are specific regions in the genome that show increased susceptibility to breakage under certain conditions. These areas can contribute to chromosomal instability and have been linked to various genetic disorders and cancers. Wh
• PPIF: PPIF (Peptidylprolyl Isomerase F): PPIF,also known as cyclophilin D, is an important mitochondrial enzyme that regulates the mitochondrial permeability transition pore (MPTP). This pore plays a critical role in controlling cell death processes like apoptosis and necrosis. PPIF’s activity is essential in these pathways, and its inhibition has been studied as a potential therapeutic approach for con
• LINGO4: LINGO4 (Leucine Rich Repeat And Ig Domain Containing 4): LINGO4 is a protein belonging to the LINGO family. It plays a role in neural development and regeneration. Although its exact function is not yet fully understood, LINGO4 may be involved in neurodegenerative diseases and neural repair processes.
• NAA38: NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38 is a component of the N-terminal acetyltransferase complex responsible for catalyzing the transfer of acetyl groups to the N-terminus of proteins. This modification influences protein stability, localization, and function. Although the precise biological roles and substrate specificity of NAA38 are not yet fully understood, N-term
• PRSS37: PRSS37 (Protease, Serine 37): PRSS37 is a gene that encodes a serine protease enzyme involved in reproductive physiology. While its precise function is still being studied, it is believed to play a key role in sperm maturation and male fertility. Mutations in PRSS37 have been linked to male infertility, highlighting its importance in reproductive health research.
• TRIM69: TRIM69 (Tripartite Motif Containing 69): TRIM69 is a member of the TRIM protein family, involved in various cellular processes such as viral defense, transcription regulation, and cell cycle control. TRIM69 plays a role in antiviral response and immune regulation, with the potential to influence the innate immune system by modulating key signaling pathways. Ongoing research focuses on understandin
• XXYLT1: XXYLT1 (Xyloside Xylosyltransferase 1) is a gene that encodes an enzyme responsible for modifying proteins by adding xylose sugars to proteoglycans. This modification is essential for building glycosaminoglycan chains, which support cell signaling, adhesion, and movement within the extracellular matrix. Changes in XXYLT1 can affect these processes and have been linked to developmental disorders.
• MDFI: MDFI (MyoD Family Inhibitor): MDFI is a gene involved in regulating muscle differentiation and development. It functions as an inhibitor of MyoD family transcription factors, which are key regulators of myogenesis. By modulating their activity, MDFI helps control muscle cell proliferation and differentiation, playing a vital role in muscle formation and repair. Dysregulation of MDFI can impact mus
• BSN: BSN (Bassoon Presynaptic Cytomatrix Protein) is a gene that encodes a protein essential for organizing active zones at synaptic terminals. This protein supports neurotransmitter release and plays a key role in synaptic transmission and plasticity, which are critical for learning and memory. Changes in BSN function or expression may affect neurological health and have been linked to neuropsychiatri
• AQP10: AQP10 (Aquaporin 10): AQP10 is a member of the aquaporin family of water channels, involved in the transport of water and small solutes across cell membranes. It is primarily expressed in the intestine and contributes to water absorption and gastrointestinal function. While its precise physiological roles are still being studied, AQP10 likely helps maintain water and electrolyte balance, with pote
• ADO: ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for RNA-specific adenosine deamination. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, influencing RNA stability, function, and regulation. ADO plays a key role in RNA editing, contributing to the diversity and functionality of RNA molecules.
• SLC26A5: SLC26A5 (Solute Carrier Family 26 Member 5, also known as Prestin): SLC26A5,also known as Prestin, is a motor protein found in the outer hair cells of the cochlea. It plays a critical role in sound amplification and hearing sensitivity by functioning as a voltage-sensitive motor protein. Alterations in SLC26A5 can impair hearing, making it an important target for research on the molecular mechanis
• PGLYRP2: PGLYRP2 (Peptidoglycan Recognition Protein 2): PGLYRP2 is a member of the peptidoglycan recognition protein family, involved in innate immunity by detecting bacterial cell wall components and triggering antibacterial responses. It helps maintain intestinal barrier integrity, supports a balanced gut microbiome, and protects against bacterial infections. PGLYRP2 is also under investigation for its r
• EGR2: EGR2 (Early Growth Response 2) is a transcription factor that plays an essential role in regulating the development of the nervous and immune systems. It is particularly important for the process of myelination in the peripheral nervous system and helps control cell growth and differentiation. Mutations in EGR2 are linked to Charcot-Marie-Tooth disease and related neuropathies, underscoring its ke
• TCF19: TCF19 (Transcription Factor 19): TCF19 is a gene that encodes a transcription factor involved in regulating the cell cycle. It helps control cell proliferation and may participate in the cellular response to DNA damage. Alterations in TCF19 function have been linked to cancer development, underscoring its significance in cell biology and oncology.
• MTAP: MTAP (Methylthioadenosine Phosphorylase): MTAP is an enzyme involved in the methionine salvage pathway, recycling methylthioadenosine generated during polyamine synthesis. It plays a key role in nucleotide and polyamine metabolism, supporting cell growth and differentiation. Loss of MTAP is common in several cancers and is linked to poor prognosis, making it a potential therapeutic target due to i
• BTN2A2: BTN2A2 (Butyrophilin Subfamily 2 Member A2) is a gene that encodes a protein from the butyrophilin family, which is involved in regulating immune responses. This protein plays a role in modulating T-cell activity and may influence how the immune system responds to pathogens, antigens, and inflammatory signals.
• SERPINE2: SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, that plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodeling, fibrinolysis, and neuronal growth, and helps inhibit enzymes such as thrombin and urokinase-type plasminogen activator, which are important for blood clotting and tissue repair. Dysre
• NNT: NNT (Nicotinamide Nucleotide Transhydrogenase): Nicotinamide Nucleotide Transhydrogenase (NNT) is an enzyme located in the inner mitochondrial membrane that plays a key role in regenerating NADPH from NADH. This process is essential for maintaining the cellular redox balance and protecting cells from oxidative stress. Deficiencies in NNT can impair mitochondrial function and increase vulnerability
• HOMER1: HOMER1 (Homer Scaffold Protein 1): HOMER1 is a scaffolding protein that regulates calcium signaling in neurons and muscle cells. It supports synaptic plasticity, neuronal development, and muscle excitation–contraction coupling. Changes in HOMER1 levels have been associated with neurological disorders, including schizophrenia and epilepsy.
• DKK1: DKK1 (Dickkopf-1) is a secreted protein that functions as an inhibitor of the Wnt signaling pathway, which is key in regulating cell growth, development, and bone formation. By blocking Wnt interactions with its receptors, DKK1 influences processes such as cell differentiation, proliferation, and bone density. Its activity is linked to conditions like osteoporosis and several cancers, making it a
• NRIP1: NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It acts as a coactivator for several nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 helps regulate gene expression in response to hormonal signals and is linked to processes such as metabolism and cell g
• NPC1: NPC1 (Niemann-Pick Disease, Type C1): NPC1 is a gene that plays a critical role in cholesterol trafficking within cells. Mutations in NPC1 lead to Niemann-Pick disease type C, a rare genetic disorder marked by the buildup of cholesterol and other lipids in cells, resulting in neurodegeneration and liver dysfunction.
• EPM2A: EPM2A is a gene that encodes laforin, a phosphatase enzyme involved in glycogen metabolism. Laforin plays a key role in preventing the buildup of abnormal glycogen deposits known as Lafora bodies, which are toxic to neurons. Mutations in EPM2A lead to Lafora disease, a rare and fatal form of progressive myoclonus epilepsy. This highlights the essential role of EPM2A in maintaining neuronal health
• ARHGAP20: ARHGAP20 (Rho GTPase Activating Protein 20): ARHGAP20 is a gene involved in regulating Rho GTPases, which are key mediators of cytoskeletal dynamics, cell shape, movement, and growth. By promoting the inactivation of Rho GTPases, ARHGAP20 helps control cell migration and maintain cellular structure. Dysregulation of this signaling pathway may contribute to cancer progression, making ARHGAP20 a pot
• MPZL2: MPZL2 (Myelin Protein Zero-Like 2): MPZL2 is a gene that encodes a protein belonging to the myelin protein zero (MPZ) family, involved in the formation and maintenance of myelin in the peripheral nervous system. Myelin is essential for the efficient transmission of nerve impulses. Mutations in myelin-related genes like MPZL2 may contribute to peripheral neuropathies.
• HLA-DPA1: HLA-DPA1 (Major Histocompatibility Complex, Class II, DP Alpha 1): The HLA-DPA1 gene is part of the human leukocyte antigen (HLA) system, which plays a crucial role in the immune system. Specifically, this gene is involved in presenting peptides derived from extracellular proteins to T cells. Its significance lies in regulating the immune response and its association with various autoimmune diseas
• PACC1: PACC1 (Peroxisome Acyl-CoA Carrier Protein 1): PACC1, although less well characterized, is believed to be involved in lipid metabolism pathways associated with peroxisomal functions. Peroxisomes are cellular organelles essential for the breakdown of very long-chain fatty acids and the synthesis of plasmalogens, which are vital components of cell membranes. Understanding the role of PACC1 could off
• TCF12: TCF12 (Transcription Factor 12): TCF12 is a member of the basic helix-loop-helix (bHLH) transcription factor family, involved in regulating gene expression during development and cell differentiation. TCF12 plays a key role in nervous system and muscle tissue development, influencing cell fate decisions and tissue formation. Mutations in TCF12 are associated with craniosynostosis, a condition mark
• SLC45A2: SLC45A2 (Solute Carrier Family 45 Member 2): SLC45A2 is a protein involved in melanin production, acting as a transporter of tyrosine, a key precursor in the melanin biosynthesis pathway. Variants of SLC45A2 contribute to human pigmentation differences, influencing skin, hair, and eye color. Mutations in this gene can cause oculocutaneous albinism type 4, characterized by reduced pigmentation and
• NCF4: NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex that plays a key role in the body’s immune defense. It helps regulate the assembly and activation of this complex, enabling the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is essential for destroying engulfed pathogens, and mutations in NCF4 can impair immun
• PIGN: PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the production of glycosylphosphatidylinositol (GPI) anchors, which attach specific proteins to the cell membrane. These GPI-anchored proteins are essential for processes such as cell adhesion, signal transmission, and immune system function. Mutations in PIGN can disrupt GPI anchor formation, leading to disorders
• ATF7: ATF7 (Activating Transcription Factor 7) is a gene that encodes a transcription factor involved in regulating cellular responses to stress. As part of the ATF/CREB family, it helps control gene expression related to apoptosis, development, and neuronal survival. ATF7 activity is important for maintaining cellular balance, and its dysregulation has been linked to stress-related conditions such as n
• OSR1: OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene that plays a key role in embryonic development, particularly in the formation of the heart and urogenital system. Proper regulation of OSR1 is essential, as mutations or dysregulation can lead to developmental abnormalities. Research on OSR1 is important for understanding congenital defects and developmental biology.
• ITIH3: ITIH3 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 3): ITIH3 is a protein that is part of the inter-alpha-trypsin inhibitor family, involved in stabilizing the extracellular matrix and modulating inflammation. It plays a role in tissue repair and protecting against protease-related tissue damage. Dysregulation of ITIH3 has been associated with cancer progression and inflammatory diseases, highlighti
• NAV1: NAV1 (Neuron Navigator 1): NAV1 is a member of the neuron navigator family, involved in neuronal development and axonal guidance. It plays a key role in the migration and morphogenesis of neurons, guiding the growth of axons toward their targets. NAV1’s function is essential for proper nervous system wiring, and disruptions in its activity can be associated with neurodevelopmental disorders and ma
• FRY: FRY (FRY Microtubule Binding Protein): FRY (FRY Microtubule Binding Protein) is a large protein involved in organizing cell structure, especially concerning microtubules and cell polarity. It plays important roles in cellular processes like migration and division. Research on FRY focuses on understanding its function in normal cell activity as well as its potential role in development, tumorigenes
• ATP1B3: ATP1B3 (ATPase Na+/K+ Transporting Subunit Beta 3): ATP1B3 is a component of the Na⁺/K⁺ ATPase pump, which maintains cellular ion gradients essential for cell volume regulation and electrical activity. This subunit influences the pump’s activity and specificity, supporting muscle function, nerve signaling, and kidney filtration. Alterations in ATP1B3 may be linked to cardiovascular and neurologica
• GCNT1: GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is a gene that encodes an enzyme involved in the biosynthesis of mucins, key components of mucus. It contributes to the modification of glycoproteins, influencing cell signaling and immune function. Altered GCNT1 activity has been linked to conditions such as cystic fibrosis and certain cancers.
• MSRB2: MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme that helps repair oxidized methionine residues in proteins, safeguarding cells from oxidative stress and preserving protein function. It is a key component of the body’s antioxidant defense system, supporting cellular resilience against environmental challenges. Studies on MSRB2 explore its potential links to aging, neurodegenerative di
• TXLNA: TXLNA (Taxilin Alpha): TXLNA is a protein involved in vesicle trafficking and protein transport, and it may play a role in regulating exocytosis. TXLNA interacts with various proteins, contributing to the organization of intracellular transport systems. Its function in cellular logistics is important for maintaining cell homeostasis and may have implications for neurodegenerative diseases and diso
• ETS1: ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1is a key member of the ETS family of transcription factors that regulate gene expression. It plays important roles in controlling immune responses, cell growth, and development. ETS1 is involved in processes such as angiogenesis, lymphocyte formation, and tumor development, and has been linked to several cancers and autoimmune disorders.
• EIF4G3: EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3) is a gene that encodes a key component of the eIF4F complex, which is involved in the initiation of protein synthesis. It plays a vital role in recruiting ribosomes to mRNA, enabling efficient translation and protein production. Proper function of EIF4G3 is essential for cell growth and differentiation, while its dysregulation may contrib
• DRD1: DRD1 (Dopamine Receptor D1): DRD1 is a gene that encodes a major dopamine receptor in the brain, playing a central role in the dopaminergic system. It is involved in regulating reward, motivation, and motor control. Dysregulation of DRD1 has been linked to psychiatric disorders, including schizophrenia, as well as addictive behaviors.
• PHKB: PHKB (Phosphorylase Kinase Beta): PHKB is a component of the glycogenolysis pathway, crucial for glycogen breakdown. It serves as a regulatory subunit of phosphorylase kinase, which activates glycogen phosphorylase — the enzyme responsible for glycogen degradation. Mutations in PHKB can cause glycogen storage disease type IX, impacting liver and muscle function.
• FHIT: FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a tumor suppressor gene involved in purine metabolism. It plays a key role in maintaining genomic stability, and its loss or alteration has been associated with various cancers, highlighting its importance in preventing tumor development.
• SPATA6: SPATA6 (Spermatogenesis Associated 6): SPATA6 is a gene important in spermatogenesis — the process of sperm cell development. It plays a key role in the formation and function of spermatozoa. Mutations in SPATA6 can cause male infertility, making it a significant factor in reproductive health.
• MANBA: MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme involved in the breakdown of N-linked glycoproteins. It catalyzes the hydrolysis of beta-linked mannose residues, playing a key role in glycoprotein degradation. Deficiencies in MANBA activity can lead to lysosomal storage disorders, resulting in the accumulation of undegraded glycoproteins and impairing cellular function.
• GJA10: GJA10 (Gap Junction Protein Alpha 10): GJA10 is a gene that encodes a connexin protein forming gap junction channels for direct exchange of ions and small molecules between cells. This communication supports tissue homeostasis and coordinated cell activity. In the eye, GJA10 helps maintain lens transparency and function, and mutations have been associated with cataracts and other vision disorders.
• ABCG5: ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is a gene that encodes a protein belonging to the ATP-binding cassette transporter family. It plays a key role in regulating dietary cholesterol by working together with ABCG8 to limit the absorption of sterols in the intestines and promote their excretion from the body. Mutations in ABCG5 are linked to sitosterolemia, a rare condition chara
• KAT6B: KAT6B (Lysine Acetyltransferase 6B): KAT6B is a gene that encodes a histone acetyltransferase involved in chromatin remodeling and gene regulation. It plays key roles in development, cell cycle control, and DNA repair. Mutations in KAT6B are linked to rare genetic disorders marked by skeletal abnormalities and developmental delays, including Genitopatellar and Ohdo syndromes.
• GPR26: GPR26 (G Protein-Coupled Receptor 26) is an orphan receptor with an unclear ligand and physiological role. It is believed to be involved in central nervous system function, potentially influencing mood and behavior. Research indicates that GPR26 may be linked to neurological and psychiatric conditions, making it a focus of interest in neuroscience and drug discovery.
• PTPRJ: PTPRJ (Protein Tyrosine Phosphatase, Receptor Type J): PTPRJ is a member of the protein tyrosine phosphatase (PTP) family, enzymes that regulate cellular activity by removing phosphate groups from tyrosine residues on proteins. It negatively regulates cell proliferation and participates in signaling pathways that control growth and differentiation. Acting as a tumor suppressor in several cancers,
• TBX3: TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a critical role in embryonic development, regulating organogenesis including limb, heart, and mammary gland formation. Mutations or dysregulation of TBX3 can cause developmental disorders such as ulnar-mammary syndrome. It is also implicated in cancer, where it may act as a transcriptional repressor to inhibit cell sene
• OTUD1: OTUD1 (OTU Deubiquitinase 1): OTUD1 (OTU Deubiquitinase 1) is an enzyme that removes ubiquitin from ubiquitinated proteins, playing a key role in regulating their degradation, signaling, and various cellular processes. OTUD1 contributes to the control of immune responses and cell signaling pathways by modulating the stability of specific protein targets. Its role in maintaining protein homeostasis
• H3C12: H3C12 (Histone Cluster 3, H3c12) is a gene that encodes a histone protein, which is essential for DNA packaging within chromosomes. Histones play a key role in regulating gene expression and maintaining chromosome structure. Changes in histone genes like H3C12 can affect cell function and have been linked to the development of various cancers.
• VPS35L: VPS35L (VPS35 Retromer Complex Component Like): VPS35L is a protein involved in the retromer complex, a key part of the endosomal transport pathway. It helps recycle membrane proteins from endosomes to the Golgi apparatus or plasma membrane. Although less studied than VPS35, VPS35L is thought to contribute to protein sorting and trafficking, supporting cellular homeostasis and signaling.
• USP47: USP47 (Ubiquitin Specific Peptidase 47): USP47 is an enzyme that removes ubiquitin from ubiquitinated proteins, helping regulate their degradation. It plays key roles in DNA repair, cell cycle control, and signal transduction by preserving protein stability. Dysregulation of USP47 has been linked to various cancers and other diseases, influencing processes like cell growth and programmed cell deat
• CTDSPL2: CTDSPL2 (CTD Small Phosphatase Like 2) is a protein involved in regulating gene expression by modulating the activity of RNA polymerase II through dephosphorylation. This process affects transcriptional and post-transcriptional control, influencing cell cycle progression and differentiation. Although its precise functions are still being studied, CTDSPL2 plays an important role in cellular growth
• DOCK10: DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in actin cytoskeleton remodeling, contributing to the activation and movement of immune cells, especially T-cells and B-cells. It plays a key role in regulating immune responses and may have implications in autoimmune conditions and immune system disorders.
• RC3H1: RC3H1 (Ring Finger and CCCH-Type Domains 1): RC3H1, also known as Roquin, is a post-transcriptional regulator that controls the stability and translation of mRNA transcripts related to immune response and inflammation. It plays a key role in maintaining immune balance by regulating cytokine expression and other immune-related genes. Dysregulation of RC3H1 has been linked to autoimmune diseases, hi
• ZBTB49: ZBTB49 (Zinc Finger and BTB Domain Containing 49) is a transcription factor involved in regulating gene expression through DNA binding and chromatin remodeling. As a member of the ZBTB family, it contributes to key cellular processes such as proliferation, differentiation, and development. Although the specific functions of ZBTB49 are not fully understood, its role in transcriptional regulation su
• ADAL: ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signaling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.
• CCR7: CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a key receptor in the immune system that guides the migration of T cells and dendritic cells to lymphoid tissues. Its interaction with the ligands CCL19 and CCL21 is essential for coordinating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been linked to autoimmune diseases and cancers, making it an important
• MGMT: MGMT (O-6-Methylguanine-DNA Methyltransferase): MGMT is a DNA repair enzyme that removes alkyl groups from the O6 position of guanine, helping prevent mutations and maintain genomic stability. It protects cells from the harmful effects of alkylating agents and is a key factor in resistance to certain chemotherapy drugs. In cancers such as gliomas, MGMT expression can influence treatment response a
• KCTD1: KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, influencing their activity. It plays important roles in cellular functions such as signal transduction and ion transport. Mutations in KCTD1 have been associated with developmental disorders, particularly affecting skin and hair.
• SCIN: SCIN (Scinderin): SCIN is a gene that encodes an actin-severing protein involved in regulating actin cytoskeleton dynamics. By modulating actin filament organization, SCIN plays a role in cellular processes such as cell motility, secretion, and membrane trafficking. While its exact mechanisms are still being studied, SCIN may influence physiological functions and pathological processes, including
• PDZD2: PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein that helps organize protein complexes at the cell membrane, supporting signal transduction and cellular communication. It is involved in various cellular functions, including synaptic signaling in neurons, and its dysregulation may be associated with neurological disorders.
• SIDT1: SIDT1 (SID1 Transmembrane Family, Member 1): SIDT1 is a protein involved in the cellular uptake of double-stranded RNA (dsRNA). It plays an important role in RNA interference and antiviral responses, contributing to the body’s defense against viral infections and aiding research into RNA-based therapeutic strategies.
• D2HGDH: D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular byproduct. It helps prevent the harmful buildup of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.
• ADRB2: ADRB2 (Adrenoceptor Beta 2): ADRB2 is a gene that encodes the beta-2-adrenergic receptor, a protein involved in the body’s ‘fight or flight’ response. This receptor plays a key role in relaxing smooth muscles in the airways and blood vessels and serves as a target for medications used to treat asthma and COPD. Genetic variations in ADRB2 can influence an individual’s response to these treatments.
• COPS9: COPS9 (COP9 Signalosome Subunit 9): COPS9 is a gene that encodes a protein part of the COP9 signalosome, a complex involved in regulating protein degradation. This complex plays key roles in cell cycle control, signal transduction, and DNA repair by modulating the ubiquitin-proteasome system, which affects protein stability. COPS9’s function in this complex highlights its importance in maintaining
• IL18R1: IL18R1 (Interleukin 18 Receptor 1): IL18R1 is a protein that acts as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defense. IL18R1 plays a key role in the immune response by enabling the activation of natural killer cells and specific T-cells, which are essential for fighting infection and injury. Changes in the IL18R1 gene can affect susceptibility to infla
• C8ORF37: C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene linked to retinal dystrophies and Bardet-Biedl syndrome — a condition marked by vision loss, obesity, and other symptoms. It plays a key role in maintaining photoreceptor cells and supporting cilia-related processes. Mutations in this gene can cause retinal degeneration and disrupt normal ciliary function.
• STARD3: STARD3 (StAR-Related Lipid Transfer Domain Containing 3): STARD3 is a protein that plays a key role in cholesterol trafficking and homeostasis within cells. It facilitates the movement of cholesterol between endosomes and the plasma membrane or endoplasmic reticulum. As a member of the START domain family, STARD3 is essential for sterol and lipid transport. Changes in its function can influence ce
• NCAM1: NCAM1 (Neural Cell Adhesion Molecule 1): NCAM1 is a protein that plays a key role in neural development, particularly in cell-cell adhesion, neurite outgrowth, and synaptic plasticity. It is essential for learning and memory and has been studied in relation to neuropsychiatric disorders such as schizophrenia and autism.
• MDM1: MDM1 (MDM1 Nuclear Protein Homolog): MDM1 (MDM1 Nuclear Protein Homolog) is a gene that encodes a nuclear protein thought to help maintain chromosomal integrity during cell division. It may play a role in DNA repair and the cellular response to DNA damage. While its exact functions are still under investigation, MDM1 is of interest for its potential involvement in cell cycle regulation.
• JAK2: JAK2 (Janus Kinase 2): JAK2 is a gene that encodes a kinase enzyme belonging to the Janus kinase (JAK) family. JAK2 plays a key role in cytokine signaling pathways and is essential for the activation of immune and blood-forming (hematopoietic) cells. Mutations in JAK2 are linked to blood disorders, including polycythemia vera and other myeloproliferative neoplasms.
• CARD9: CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene that plays a key role in innate immune signaling. It encodes a protein containing a caspase recruitment domain (CARD) and is involved in activating immune cells and producing cytokines in response to fungal pathogens. CARD9 is essential for mounting an effective immune response against fungal infections.
• FSHR: FSHR, or Follicle-Stimulating Hormone Receptor, is a receptor protein primarily found on ovarian granulosa cells in females and Sertoli cells in males. It plays a key role in reproductive function by mediating the effects of follicle-stimulating hormone (FSH), which is secreted by the anterior pituitary gland. FSHR is essential for processes like folliculogenesis—the growth and maturation of ovari
• IL2RA: IL2RA (Interleukin 2 Receptor Alpha): IL2RA, also known as CD25, is part of the receptor complex for interleukin-2, a cytokine essential for T-cell proliferation and differentiation. This receptor plays a key role in regulating the immune response, including the development and function of regulatory T cells that help prevent autoimmune diseases. Dysregulation of IL2RA or its signaling pathway can
• LPIN2: LPIN2 (Lipin 2): LPIN2 is essential for lipid metabolism and energy production, playing a key role in converting phosphatidic acid into diacylglycerol, a critical step in the synthesis of triglycerides and phospholipids. It also participates in regulating gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are linked to Majeed syndrome, which is characterised by chroni
• ARHGAP9: ARHGAP9 (Rho GTPase Activating Protein 9) is a gene that encodes a protein involved in regulating Rho family GTPases—molecules that control cell shape, movement, and structure. By modulating these signaling pathways, ARHGAP9 plays a role in cell migration, adhesion, and growth. It has been studied in cancer research for its potential influence on tumor cell invasion and metastasis.
• ACKR1: ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor that binds chemokines without triggering a signal, acting as a decoy to regulate the immune response. Formerly known as the Duffy antigen receptor for chemokines (DARC), ACKR1 influences leukocyte migration by sequestering chemokines. It also plays a key role in malaria resistance by serving as a receptor for Plasmodium vivax. Variations i
• NKX2-3: NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene that encodes a transcription factor important for gastrointestinal development and homeostasis. It helps regulate genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been linked to inflammatory bowel diseases.
• RNF128: RNF128 (Ring Finger Protein 128): RNF128 is a gene that encodes an E3 ubiquitin-protein ligase involved in the ubiquitin-proteasome system, a key pathway for protein degradation. It plays a role in immune regulation and has been linked to autoimmune diseases. Research on RNF128 helps improve understanding of immune responses and autoimmunity.
• SH2B3: SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting
• RAP2B: RAP2B (RAP2B, Member of RAS Oncogene Family): RAP2B is a gene belonging to the RAS oncogene family, involved in intracellular signaling pathways that regulate cell proliferation, differentiation, and survival. It also plays a role in cytoskeletal organization and vesicle trafficking. Disruptions in RAP2B signaling may contribute to cancer development.
• ICA1L: ICA1L (Islet Cell Autoantigen 1-Like) is a gene associated with proteins involved in neuroendocrine secretion, particularly in pancreatic beta cells. It is believed to play a role in regulating insulin secretion and may be linked to autoimmune responses in diabetes. Research into ICA1L may offer insights into the development of autoimmune diabetes and potential therapeutic targets.
• PHACTR2: PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 (Phosphatase and Actin Regulator 2) is a gene that reflects the regulation of key cellular processes, including cell signaling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, playing a role in the organization of actin filaments and the maintenance of cell shape. PHACTR2 is involved in p
• RUNX3: RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a gene that encodes a transcription factor involved in regulating gene expression. It contributes to key cellular processes, including cell differentiation and immune responses. Dysregulation of RUNX3 has been linked to cancer and developmental disorders.
• OR13F1: OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a protein that belongs to the olfactory receptor gene family — a group of G protein-coupled receptors involved in detecting odors. These receptors are found in the olfactory epithelium, where they bind specific odor molecules and trigger signal pathways that result in the perception of smell. While the exact ligands and funct
• HASPIN: HASPIN (Histone H3 Associated Protein Kinase): HASPIN is a kinase that phosphorylates histone H3, playing a key role in regulating chromosome condensation and segregation during mitosis. It is essential for maintaining genomic stability and ensuring proper cell division. Dysregulation of HASPIN activity can cause chromosomal abnormalities and is being studied for its potential involvement in cance
• METTL14: METTL14 (Methyltransferase Like 14): METTL14 is a component of the complex responsible for N6-methyladenosine (m6A) RNA modification, a process essential for regulating RNA metabolism and function. Changes in METTL14 activity can influence gene expression and have been linked to the development of certain cancers.
• ADAM32: ADAM32 (ADAM Metallopeptidase Domain 32) is a member of the ADAM family of enzymes, which are known for their roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes contribute to important biological processes such as cell signaling, fertilization, and cell migration. While the specific functions of ADAM32 are still under investigation, it is believed to be invol
• FCHO2: FCHO2 (FCH Domain Only 2): FCHO2 is a gene involved in clathrin-mediated endocytosis, a key process for internalizing substances from the cell surface. It plays a role in vesicle formation and intracellular trafficking. Dysregulation of FCHO2 may impact cellular uptake and contribute to various cellular dysfunctions.
• OVOL1: OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 is a gene that encodes a transcriptional repressor involved in regulating gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and the formation of tissue barriers.
• PTPN22: PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22): PTPN22 is an enzyme that reflects the regulation of immune responses in the body. It is a lymphoid-specific phosphatase that modulates T-cell receptor signaling and acts as a negative regulator of T-cell activation. PTPN22 is essential for maintaining immune tolerance and preventing autoimmune diseases. Genetic variations in PTPN22 have
• HNF4A: HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene that plays a key role in liver development and function. It encodes a transcription factor responsible for regulating the expression of genes involved in liver formation, glucose metabolism, and lipid metabolism. Mutations in HNF4A can lead to metabolic disorders, including maturity-onset diabetes of the young (MODY).
• DLG2: DLG2 (Discs Large Homolog 2) is a gene that encodes a protein from the membrane-associated guanylate kinase (MAGUK) family, which is important for synaptic assembly and function. This protein plays a key role in the nervous system by supporting synaptic plasticity and neuronal signaling. Changes in DLG2 have been associated with neurological disorders, highlighting its importance in brain developm
• SPINK5: SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that encodes a protein responsible for regulating enzyme activity in the skin. This protein helps maintain skin barrier integrity and supports immune defense. Mutations in SPINK5 are linked to Netherton syndrome, a condition marked by skin inflammation, scaling, and increased allergy risk.
• NFATC2: NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a key role in the immune response. It is activated in T cells in response to signals that increase intracellular calcium levels, leading to its translocation to the nucleus where it can influence the expression of genes involved in T cell activation and differentiation. NFATC2 is essential for the developme
• PTGER4: PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 plays a key role in regulating immune cell activation, cytokine production, and other cellular functions, influencing the body’s inflammatory processes. It has been studied in the context of autoimmune and inflammatory dis
• ID2: ID2 (Inhibitor Of DNA Binding 2, HLH Protein): ID2 is a protein that plays a regulatory role by inhibiting the binding of basic helix-loop-helix transcription factors. This inhibition is important for controlling cell differentiation and proliferation. ID2 is involved in key developmental processes such as neurogenesis, immune system development, and cellular senescence, and has also been linked t
• SLC44A2: SLC44A2 (Solute Carrier Family 44 Member 2): SLC44A2 is a gene involved in choline transport and plays a role in modulating immune responses and inflammation. It has been linked to venous thromboembolism risk and contributes to neutrophil migration and activation. Research into SLC44A2 helps clarify its impact on thrombotic disorders and immune regulation, highlighting potential targets for treati
• LCE3C: LCE3C (Late Cornified Envelope 3C): LCE3C is a gene that is part of the late cornified envelope gene cluster, involved in forming the cornified envelope in the epidermis. This structure is important for maintaining skin barrier function. Variations in LCE3C have been linked to skin disorders such as psoriasis, highlighting its role in skin integrity and immune responses.
• FMO4: FMO4 (Flavin Containing Monooxygenase 4): FMO4 is an enzyme belonging to the flavin-containing monooxygenase family. It plays a key role in the detoxification process by catalyzing the oxidation of various compounds, including drugs, xenobiotics, and endogenous molecules. Primarily expressed in the liver, FMO4 helps regulate the metabolism and elimination of substances, which can impact drug effec
• C10ORF53: C10ORF53 (Chromosome 10 Open Reading Frame 53): C10ORF53 is a gene identified based on its location on chromosome 10. While its exact function remains unknown, C10ORF53 represents a potential area of interest in genetic research. Studying this gene may help uncover new biological pathways and disease associations, offering insights into cellular processes linked to this region of the genome.
• PRDM5: PRDM5 (PR Domain Containing 5): PRDM5 is a transcription factor that plays a key role in regulating gene expression, cellular differentiation, and extracellular matrix organization. It is essential for the development and maintenance of tissues such as bone, cartilage, and connective tissue. Mutations in PRDM5 are associated with brittle cornea syndrome and other connective tissue disorders, under
• CTRC: CTRC (Chymotrypsin C) is a gene that encodes an enzyme involved in protein digestion within the pancreas. This enzyme helps regulate digestive processes, and mutations in CTRC have been linked to chronic pancreatitis — a condition marked by persistent inflammation and pancreatic damage. Understanding CTRC is important for studying pancreatic health and related disorders.
• ZNF816: ZNF816 (Zinc Finger Protein 816) is a gene that encodes a member of the zinc finger protein family, known for roles in DNA binding and gene regulation. While the specific function of ZNF816 is not fully defined, zinc finger proteins are key regulators of gene expression, influencing development, cell differentiation, and potential disease pathways such as cancer and genetic disorders.
• NCR3: NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a receptor found on natural killer (NK) cells and certain T cells. It is involved in identifying and targeting infected or abnormal cells for destruction, playing a key role in the innate immune defense against viruses and tumor cells.
• OR10J5: OR10J5 (Olfactory Receptor 10J5): OR10J5 is a gene that encodes a protein belonging to the olfactory receptor family, which is essential for the sense of smell. This receptor detects specific odor molecules and contributes to the perception of a wide range of scents. Studying OR10J5 helps improve our understanding of olfaction and may inform the development of sensory-related technologies and frag
• FLG: FLG (Filaggrin) is a gene that encodes a protein essential for maintaining the skin’s protective barrier. Proper FLG function helps retain moisture and shield against environmental irritants. Mutations in FLG are linked to atopic dermatitis (eczema) and can increase susceptibility to other allergic conditions.
• SLC1A1: SLC1A1
• OR10J1: OR10J1 (Olfactory Receptor 10J1): OR10J1 is a gene that encodes a receptor belonging to the olfactory receptor family, which is essential for the sense of smell. These receptors detect specific odor molecules, contributing to the wide range of scent perceptions. Research on OR10J1 helps improve understanding of olfaction and may offer insights for developing sensory technologies and fragrance desi
• VMP1: VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a key cellular process for breaking down and recycling cellular components. It plays a crucial role in the formation of autophagosomes, which help maintain cellular balance. Dysregulation of VMP1 can disrupt cell homeostasis and has been linked to conditions such as pancreatitis and certain cancers.
• MFHAS1: MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1 is a gene, also known as MASL1, involved in immune regulation and inflammatory processes. It has been linked to malignant fibrous histiocytoma, a rare form of cancer, and is thought to contribute to tumor development and modulation of immune responses.
• CATSPER2: CATSPER2 (Cation Channel, Sperm Associated 2): CATSPER2 is essential for sperm motility and fertility, forming part of a complex calcium channel in sperm necessary for the hyperactivated motility required for fertilisation. Mutations in CATSPER2 can lead to male infertility due to impaired sperm function. Research on CATSPER2 offers insights into reproductive health and potential targets for contr
• IL17RA: IL17RA (Interleukin 17 Receptor A): IL17RA is a component of the receptor complex for interleukin 17 (IL-17), a cytokine that plays a key role in mediating inflammatory and immune responses. IL17RA signaling is essential for defense against extracellular pathogens and is implicated in the development of several autoimmune and inflammatory diseases, including psoriasis, rheumatoid arthritis, and an
• COG6: COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is a key part of the COG complex, which is essential for normal Golgi function and vesicular trafficking. It plays a vital role in maintaining Golgi structure and ensuring proper glycosylation of proteins, a critical post-translational modification. Mutations in COG6 can cause congenital disorders of glycosylation, leading to a variety of clinic
• LYST: LYST (Lysosomal Trafficking Regulator): LYST is a gene that regulates lysosomal trafficking, essential for proper cellular digestion and waste removal. Mutations in LYST can lead to Chediak-Higashi syndrome, a rare disorder marked by abnormal lysosome formation, impaired immune function, and increased infection risk.
• ACKR2: ACKR2 (Atypical Chemokine Receptor 2): ACKR2 is a receptor, also known as D6, that functions in an unconventional way by scavenging chemokines from the environment rather than signaling through typical pathways. This activity is essential for regulating inflammatory responses and maintaining immune balance. By clearing chemokines, ACKR2 plays a key role in controlling inflammation and has been lin
• LRRN2: LRRN2 (Leucine Rich Repeat Neuronal 2): LRRN2 is a member of the leucine-rich repeat family of proteins, which are involved in protein-protein interactions. LRRN2 plays important roles in cell adhesion, signaling, and neuronal development. It is expressed in various brain regions and is believed to contribute to neural circuit formation and synaptic differentiation. Its involvement in neural devel
• IFIH1: IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is a gene that encodes a protein acting as an intracellular sensor for viral RNA. It plays a key role in innate immunity by detecting viral replication and triggering immune responses. Variations in IFIH1 have been linked to autoimmune conditions such as type I diabetes and systemic lupus erythematosus.
• TNFAIP3: TNFAIP3 (TNF Alpha Induced Protein 3): TNFAIP3, also known as A20, is a key negative regulator of NF-κB signaling, helping control inflammation and immune responses. It works by ubiquitinating signaling molecules to stop NF-κB activation, preventing prolonged inflammation that could lead to autoimmune disease. Mutations or dysregulation of TNFAIP3 are linked to various autoimmune and inflammatory
• UNC119B: UNC119B (UNC-119 Homolog B) is a gene involved in the transport of proteins to cilia—specialized cellular structures essential for signaling and sensory functions. It plays a key role in the development and maintenance of photoreceptor cells in the retina. Disruption of UNC119B function can impair ciliary activity and may contribute to retinal disorders and vision loss.
• CSMD1: CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene involved in brain development and neural function. It is believed to contribute to immune system regulation and synaptic plasticity. Variations in CSMD1 have been linked to neuropsychiatric conditions, including schizophrenia and cognitive abilities.
• SUGCT: SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is an enzyme that plays a key role in the metabolism of glutarate, contributing to the tricarboxylic acid (TCA) cycle. It is essential for energy production and amino acid metabolism. Dysfunction in SUGCT can result in glutaric aciduria type III, a metabolic disorder that impacts energy production.
• SIGLEC: SIGLEC1 (Sialic Acid Binding Ig-Like Lectin 1): SIGLEC1 is a protein, also known as sialoadhesin or CD169, that belongs to the family of I-type lectins. It recognizes sialic acid residues on cell surfaces and is primarily expressed on macrophages. SIGLEC1 plays important roles in cell-cell interactions, binding to sialylated pathogens, and modulating immune responses. It is involved in immune surv
• TSLP: TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays a key role in initiating allergic inflammation and regulating immune responses at the epithelial barrier. It acts on dendritic cells, promoting a Th2-biased immune response, which is central to the development of allergic diseases such as asthma, atopic dermatitis, and eosinophilic esophagitis. Research on TSLP focuses on its poten
• STAT6: STAT6 (Signal Transducer And Activator Of Transcription 6) is a protein that plays a key role in immune signaling pathways, especially those triggered by cytokines like IL-4 and IL-13. It helps regulate allergic inflammation by promoting the development of Th2 cells, production of IgE antibodies, and growth of mast cells. Because of its involvement in allergic responses and asthma, STAT6 is an imp
• IFITM2: IFITM2 (Interferon Induced Transmembrane Protein 2): IFITM2 is a member of the interferon-induced transmembrane protein family that plays a key role in the body’s defense against viral infections. It helps inhibit the replication and spread of various enveloped viruses by blocking the fusion of viral and host cell membranes—a crucial step in the viral life cycle. IFITM2 expression is increased in
• GAREM2: GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2) is a gene involved in regulating the MAPK/ERK signaling pathway, which is essential for controlling cell growth, differentiation, and survival. It helps mediate cellular responses to external signals such as growth factors and stress. GAREM2 is of particular interest in cancer research, as disruptions in this pathway are commonly linked to tumo
• LPP: LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma) is a protein involved in regulating cell adhesion, migration, and the organization of the actin cytoskeleton. It plays a key role in forming focal adhesions and stress fibers, which connect the cytoskeleton to the extracellular matrix. LPP’s function is essential for controlling cell movement and maintaining cellular structure.
• RASSF3: RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a gene that encodes a tumor suppressor protein involved in regulating the cell cycle, apoptosis, and cellular senescence. It acts as a mediator in signaling pathways related to Ras proteins, which are essential for cell growth, differentiation, and survival. RASSF3 also interacts with microtubules and other cellular structures, helping mai
• ZFAT: ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor involved in regulating gene expression. It is believed to play important roles in immune function and cell survival. ZFAT has been linked to autoimmune diseases and is studied for its role in lymphocyte development and activity.
• INAVA: INAVA (Innate Immune Signal Activator): INAVA is a gene involved in regulating the NF-kappaB signaling pathway, a key driver of the body’s innate immune responses. It plays an important role in activating immune cells and promoting the production of inflammatory mediators, helping the body defend against pathogens and manage inflammation.
• ZFPM1: ZFPM1 (Zinc Finger Protein, FOG Family Member 1): ZFPM1 is a cofactor that interacts with GATA family transcription factors, playing a key role in the development and differentiation of various cell types, especially those in the heart and blood. It is essential for the differentiation of erythroid and megakaryocyte lineages. Mutations or dysregulation of ZFPM1 can impact hematopoiesis, potentiall
• NFE2: NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor that regulates genes involved in erythropoiesis, the production of red blood cells. It plays a key role in the development and maturation of erythroid cells. Changes or mutations in NFE2 can impact red blood cell production and may contribute to blood disorders.
• GNB5: GNB5 (G Protein Subunit Beta 5): GNB5 is a protein component of heterotrimeric G proteins, which mediate cellular responses to external signals through signal transduction pathways. It plays vital roles in regulating heart rate, vision, and neurotransmission, functioning in both the central and peripheral nervous systems. Variants in GNB5 have been linked to arrhythmias and neurodevelopmental diso
• DOK5: DOK5 (Docking Protein 5) is a member of the DOK family of adaptor proteins, which act as substrates for receptor tyrosine kinases and help transmit signals inside cells. It plays important roles in pathways that control cell growth, differentiation, and survival. DOK5 is particularly involved in neuronal development and has been linked to insulin signaling, making it significant for both nervous s
• RBMS3: RBMS3 (RNA Binding Motif, Single-Stranded Interacting Protein 3): RBMS3 is a gene that encodes a protein involved in RNA binding and the regulation of gene expression. This protein plays important roles in cell adhesion and tissue development. Changes in RBMS3 have been associated with several cancers, including gastric and lung cancer.
• CSK: CSK (C-Src Tyrosine Kinase) is an important regulatory enzyme that controls the activity of Src family tyrosine kinases by phosphorylating and inhibiting them. These kinases play key roles in cell growth, differentiation, and survival signaling pathways. Dysregulation of CSK can lead to abnormal cell signaling, contributing to cancer and other diseases. Studying CSK’s regulatory functions helps us
• CNOT4: CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a component of the CCR4-NOT complex, which plays a key role in regulating gene expression through mechanisms like mRNA degradation and transcriptional control. This gene is involved in several cellular processes, including immune response and development. Dysregulation of CNOT4 has been linked to cancer and other diseases, emphasizing its
• RAPGEF6: RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6): RAPGEF6 is a protein that plays a key role in signal transduction pathways, regulating cell adhesion, migration, and growth. It functions as a guanine nucleotide exchange factor for Rap proteins, controlling their activity in response to extracellular signals. Dysregulation of RAPGEF6 has been linked to cancer progression and metastasis, emphasiz
• ALOX15: ALOX15 (Arachidonate 15-Lipoxygenase): ALOX15 is an enzyme that catalyzes the oxygenation of polyunsaturated fatty acids in lipids. It plays a key role in producing bioactive lipid mediators involved in inflammatory and immune responses. ALOX15’s activity is essential for metabolizing arachidonic acid into leukotrienes and lipoxins, which have both pro-inflammatory and anti-inflammatory effects. T
• NEBL: NEBL (Nebulette): NEBL is a gene that encodes a cardiac-specific actin-binding protein essential for the structural integrity and function of heart muscle cells. It plays a key role in organizing the actin cytoskeleton, which influences cardiac muscle contraction and overall heart performance. Mutations in NEBL have been linked to cardiomyopathies, highlighting its important role in maintaining ca
• SIPA1L3: SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3) is a gene involved in signal transduction and cell growth. It plays an important role in the nervous system by supporting synaptic function and neuronal communication. Changes in SIPA1L3 may affect brain development and cognitive function, potentially contributing to neurological disorders.
• LEPR: LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a key role in regulating energy balance, including appetite and metabolism. Proper LEPR function is essential for the body to respond to leptin signals, while mutations in LEPR can cause leptin resistance, a condition commonly associated with obesity.
• COL11A1: COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 is a gene that encodes a key component of type XI collagen, which is essential for the structure and integrity of connective tissue. Mutations in COL11A1 are linked to several connective tissue disorders, including some forms of Ehlers-Danlos syndrome and Stickler syndrome.
• BMPR1B: BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor that binds bone morphogenetic proteins, playing a key role in bone formation and development. It is important for cell growth and differentiation and has been studied for its involvement in skeletal disorders and certain cancers.
• LARP4B: LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which plays a role in regulating RNA stability and translation. While the specific functions of LARP4B are still being studied, LARPs generally contribute to post-transcriptional gene regulation by affecting mRNA stability, translation, and cell growth. Understanding LARP4B may provide important insights in
• DCDC2B: DCDC2B (Doublecortin Domain Containing 2B) is a protein that belongs to the doublecortin family, known for its role in brain development. Proteins in this family contain doublecortin domains that bind to microtubules, helping guide neuronal migration and proper formation of the cerebral cortex. Proper function of DCDC2B is essential for normal brain development, and changes in this protein may be
• HSPA13: HSPA13 (Heat Shock Protein Family A (Hsp70) Member 13): HSPA13 is a gene that encodes a protein belonging to the heat shock protein family, known for helping protect cells from stress by assisting in protein folding, repair, and degradation. Although its specific functions are less understood, HSPA13 is believed to be involved in the cellular stress response and may play a role in conditions like
• NOS1: NOS1 (Nitric Oxide Synthase 1): NOS1 is an enzyme that produces nitric oxide (NO), a key signaling molecule in the body. It is essential for neurotransmission, regulation of vascular tone, and modulation of immune responses. In the nervous system, NOS1 supports neuronal communication and plasticity. Imbalances in NOS1 activity have been linked to neurological disorders, cardiovascular diseases, an
• KIAA1109: KIAA1109: KIAA1109 is a gene associated with a range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its exact function is not fully understood, it is thought to play a key role in immune regulation and the body’s inflammatory responses. Studying KIAA1109 is important for understanding the genetic basis of autoimmune disor

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Följ instruktionerna som medföljer kitet. Inga särskilda förberedelser krävs generellt inför testet utöver att du ska undvika att äta, dricka, röka eller tugga tuggummi i minst 30 minuter före provtagningen för att säkerställa provkvaliteten.

Vanliga frågor – DNA Immunity & Inflammation

Vad kan detta test berätta om mitt immunförsvar?

Testet kan ge insikt i hur din kropp kan reagera på inflammation, allergener och infektioner utifrån genetisk variation. Det kan hjälpa dig att bättre förstå möjliga individuella skillnader i immunrelaterade processer.

Är resultaten personliga?

Ja, resultaten baseras på din genetiska profil och innehåller individanpassade insikter och vägledning relaterade till immunhälsa och livsstilsfaktorer.

Kundomdömen – DNA Immunity & Inflammation

4.7/5 (3)

• 5/5 — Easy saliva collection and the results came back faster than I expected.
• 5/5 — A very straightforward process from start to finish.
• 4/5 — Informative report that helped me understand my allergy triggers better. The lab takes a couple of weeks to process but it is worth the wait.