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Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Fatigue Test

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 crucial 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 disorders, emphasising its importance in studies of signal transduction and related diseases.

GNB5

SPATA5 (Spermatogenesis-Associated 5) is a gene involved in spermatogenesis, the process of sperm development. It plays a crucial role in male fertility by supporting proper sperm formation. Mutations in SPATA5 have been associated with fertility issues and male infertility.

SPATA5

CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a crucial role in cell adhesion, a process essential for cellular communication and development. It is particularly important in the nervous system and immune response. Mutations in CADM1 have been associated with several cancers and neurological disorders, highlighting its significance in both normal physiology and disease.

CADM1

CRYBB2 (Crystallin Beta-B2): CRYBB2 is a protein that belongs to the crystallin family and is primarily located in the lens of the eye. It is vital for maintaining lens clarity and its refractive properties. CRYBB2 supports the structural integrity of the lens and is essential for proper vision.

CRYBB2

GBE1 (Glycogen Branching Enzyme 1): GBE1 is an enzyme essential for glycogen synthesis, a vital process in energy metabolism. It facilitates the formation of glycogen’s branched structure. Mutations in GBE1 can cause glycogen storage disease type IV, resulting in abnormal glycogen accumulation in cells and impairing liver and muscle function.

GBE1

IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 is a gene that encodes a zinc finger transcription factor essential for immune cell development and differentiation, particularly in B cells. Mutations in IKZF1 are common in B-cell acute lymphoblastic leukaemia (B-ALL), underscoring its key role in haematopoiesis and immune regulation. Its interactions with other genes and its role in maintaining immune balance make it a focus of research in both immunology and oncology.

IKZF1

PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that detects physical forces such as pressure and stretch in tissues like blood vessels and the lungs. It is essential for vascular development, blood pressure regulation, and cell volume control. Variants in the PIEZO1 gene are linked to hereditary xerocytosis — a disorder characterised by dehydrated red blood cells — and other conditions affecting mechanosensation.

PIEZO1

PFKM (Phosphofructokinase, Muscle): PFKM is a gene that encodes an enzyme essential for glycolysis and glucose metabolism in muscle tissue. It plays a key role in producing energy during physical activity and muscle contraction, making it vital for optimal muscle performance and function.

PFKM

RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is a gene that encodes a protein belonging to the RAB family of small GTPases, which regulate various aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a crucial role in maintaining efficient protein transport and processing within the cell.

RAB1A

HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is a gene within the HLA complex that plays a central role in regulating the immune system through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells to initiate immune responses. Variations in HLA-DQA2 are associated with susceptibility to certain autoimmune diseases, emphasising its significance in immune tolerance and autoimmunity.

HLA-DQA2

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 is a gene that regulates the production of sphingolipids, essential components of cell membranes and signalling pathways. It helps maintain lipid balance in cells and influences inflammatory responses. Variations in ORMDL3 have been linked to a higher risk of asthma and allergic diseases, emphasising its role in immune regulation and inflammation.

ORMDL3

TMC5 (Transmembrane Channel Like 5): TMC5 is a protein that belongs to the TMC family, a group believed to function as ion channels or transporters. Although its exact role remains unclear, TMC5 may contribute to sensory perception or the maintenance of cellular homeostasis. Research is ongoing to clarify its function and potential significance to health and disease.

TMC5

IL13 (Interleukin 13): IL13 is a cytokine involved in regulating immune responses, particularly in allergic inflammation and asthma. It plays a crucial role in modulating antibody production and managing inflammatory reactions, especially in allergic conditions and protection against parasitic infections.

IL13

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a crucial enzyme involved in the remethylation pathway of homocysteine metabolism. It catalyses the transfer of a methyl group from 5-methyltetrahydrofolate (5-MTHF) to homocysteine, producing methionine and tetrahydrofolate (THF). Methionine is a precursor for S-adenosylmethionine (SAM), a universal methyl donor essential for various methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. Proper MTR activity is vital for maintaining normal homocysteine levels and supporting cellular methylation processes. Dysregulation of MTR, often due to genetic mutations or deficiencies, can affect these critical functions.

GCK (Glucokinase): GCK is a gene that encodes the enzyme glucokinase, a key regulator of glucose metabolism in the body. Glucokinase catalyses the first step of glucose processing in the liver and pancreatic beta cells. It acts as a glucose sensor, playing a vital role in detecting blood sugar levels, triggering insulin release, and maintaining overall glucose balance.

FGF10 (Fibroblast Growth Factor 10): FGF10 is a protein essential for embryonic development, particularly in the formation of limbs and lungs. It plays a crucial role in the proliferation and differentiation of cells within these tissues. Mutations in FGF10 can lead to developmental disorders such as lung aplasia.

FGF10

CATSPER2 (cation channel, sperm-associated 2): CATSPER2 is vital for sperm motility and fertility, as it forms part of the calcium channel complex in sperm required for the hyperactivated motility essential for fertilisation. Mutations in CATSPER2 can result in male infertility due to impaired sperm function. Research into CATSPER2 offers insights into reproductive health and potential targets for contraception or infertility treatment.

CATSPER2

MTAP (Methylthioadenosine Phosphorylase): MTAP is an enzyme involved in the methionine salvage pathway, recycling methylthioadenosine produced during polyamine synthesis. It plays a crucial role in nucleotide and polyamine metabolism, supporting cell growth and differentiation. Loss of MTAP is common in various cancers and is associated with poor prognosis, making it a potential therapeutic target due to its significance in metabolic pathways essential for cell survival.

MTAP

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 characterised by persistent inflammation and pancreatic damage. Understanding CTRC is important for studying pancreatic health and related disorders.

CTRC

TSPAN3 (Tetraspanin 3): TSPAN3 encodes a member of the tetraspanin protein family, which plays a role in cell adhesion, signaling, and membrane organization. Tetraspanins are involved in various cellular processes, including immune cell activation and cancer metastasis.

TSPAN3

PFKL (Phosphofructokinase, Liver Type): PFKL is an enzyme that plays a crucial role in glycolysis — the metabolic pathway that converts glucose into energy. It is vital for glucose metabolism and energy production, particularly in the liver, where it facilitates glucose utilisation and storage.

PFKL

ABCA1 (ATP-binding cassette sub-family A member 1): ABCA1 is a membrane protein essential for transporting cholesterol and phospholipids from cells to lipid-poor apolipoproteins, forming nascent high-density lipoprotein (HDL) particles. This reverse cholesterol transport process helps maintain cholesterol balance and supports healthy lipid metabolism. ABCA1 is mainly expressed in the liver and in peripheral tissues such as macrophages, where it aids in cholesterol removal, contributing to cardiovascular protection. Mutations or reduced expression of ABCA1 can disrupt lipid homeostasis and increase the risk of atherosclerosis.

ABCA1

MAT1A (Methionine Adenosyltransferase I, Alpha) is an enzyme that produces S-adenosylmethionine (SAMe), the body’s primary methyl donor for key metabolic processes. It plays a central role in methionine metabolism, influencing gene regulation, cell growth, and detoxification. Reduced MAT1A activity is linked to liver disorders such as cirrhosis and hepatocellular carcinoma.

MAT1A

SERPINA7 (Thyroxine-binding globulin, TBG): SERPINA7 is a carrier protein produced mainly in the liver that circulates in the bloodstream. It binds to and transports thyroid hormones — primarily thyroxine (T4) and triiodothyronine (T3) — ensuring their stable levels and delivery to tissues. This glycoprotein is essential for regulating the distribution of thyroid hormones, which influence metabolism, growth, and development. Changes in SERPINA7 levels or mutations in its gene can affect hormone availability and thyroid-related functions.

SERPINA7

BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is a protein involved in regulating apoptosis and cell survival. It interacts with members of the Bcl-2 family — key proteins that control cell death and survival — and plays an important role in research on cancer development and cellular stress responses.

BNIP5

GLIS1 (GLIS Family Zinc Finger 1): GLIS1 is a transcription factor that regulates gene expression in various tissues, including the reproductive system and skin. It plays a role in reprogramming somatic cells into pluripotent stem cells, underlining its potential applications in regenerative medicine.

GLIS1

STAC (SH3 and Cysteine-Rich Domain): STAC is a protein — specifically STAC3 in humans — that plays a key role in skeletal muscle contraction. It is essential for excitation–contraction coupling, the process that links electrical signals to muscle movement. Mutations in the STAC3 gene can lead to Native American myopathy, a rare congenital condition marked by muscle weakness, skeletal abnormalities, and increased risk of malignant hyperthermia. Studying STAC3 is vital for understanding muscle physiology and related disorders.

STAC

MORC2 (Microrchidia 2): MORC2 is a gene that encodes a member of the MORC family of proteins. These proteins are involved in epigenetic regulation, DNA damage repair, and transcriptional control. MORC2 plays diverse roles that can influence multiple cellular processes.

MORC2

MTMR7 (Myotubularin Related Protein 7): MTMR7 is a member of the myotubularin family of enzymes that regulate cellular lipid levels, particularly phosphoinositides. It plays an important role in intracellular signalling and trafficking. Alterations in MTMR7 function can affect processes such as autophagy and endocytosis, and have been linked to research on neurodegenerative diseases.

MTMR7

STK32A (Serine/Threonine Kinase 32A): STK32A is a gene that encodes a serine/threonine kinase — an enzyme that modifies proteins by adding phosphate groups. Such kinases are involved in key cellular processes, including signalling, cell cycle regulation, and apoptosis. The precise functions of STK32A are still under investigation, with research exploring its role in cell regulation and potential links to diseases such as cancer.

STK32A

CERS6, also known as Ceramide Synthase 6, is an enzyme that plays a key role in the biosynthesis of ceramides—essential components of cell membranes and important signalling molecules in cellular processes. Located in the endoplasmic reticulum (ER), CERS6 catalyses the formation of ceramides by attaching fatty acyl-CoA to sphingoid bases. It is specifically involved in producing ceramide species with distinct acyl chain lengths and saturation, which affect their biophysical properties and cellular functions.

CERS6

PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is a protein associated with the peroxisomal degradation pathway, particularly involved in the metabolism of branched-chain fatty acids and bile acid intermediates. It contributes to lipid metabolism and the maintenance of cellular lipid homeostasis. Although its exact functions are still being defined, PHYHIPL may play a role in metabolic disorders linked to defective lipid processing.

PHYHIPL

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 signalling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its function is essential for maintaining cellular homeostasis and regulating cell cycle checkpoints.

PPP2R3C

MDM1 (MDM1 Nuclear Protein Homolog): MDM1 (MDM1 Nuclear Protein Homolog) is a gene that encodes a nuclear protein believed to aid in maintaining chromosomal integrity during cell division. It may have a role in DNA repair and the cellular response to DNA damage. Although its precise functions remain under investigation, MDM1 is of interest due to its potential involvement in cell cycle regulation.

MDM1

CNTN5 (Contactin 5): CNTN5 is a member of the contactin family, involved in the development of the nervous system, particularly in the formation of neural connections. It plays a crucial role in neuronal development and function. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities.

CNTN5

CCK (Cholecystokinin): CCK is a gene that encodes a peptide hormone involved in digestion and appetite regulation. Cholecystokinin stimulates the release of digestive enzymes and induces gallbladder contraction. It also acts as a satiety signal in the brain, helping to control food intake.

IL18R1 (Interleukin 18 Receptor 1): IL18R1 is a protein that functions as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defence. IL18R1 plays a crucial role in the immune response by facilitating the activation of natural killer cells and specific T-cells, which are vital for combating infection and injury. Variations in the IL18R1 gene can influence susceptibility to inflammatory and autoimmune diseases, highlighting its role in regulating immune and inflammatory processes.

IL18R1

IFNA13 (Interferon Alpha 13): IFNA13 is a cytokine belonging to the interferon alpha family, which plays a crucial role in immune defence against viral infections and tumour growth. It activates the innate immune system, inducing genes that inhibit viral replication, enhance cell-mediated immunity, and promote apoptosis of infected or cancerous cells. Its functions in antiviral defence and cancer immunotherapy highlight its significance in immune regulation and anti-tumour activity.

IFNA13

OR7A17 (Olfactory Receptor, Family 7, Subfamily A, Member 17): OR7A17 is a gene that encodes a protein belonging to the olfactory receptor family, which is involved in detecting odour molecules. This large gene family plays a key role in the sense of smell and the complex signalling pathways related to olfaction.

OR7A17

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, highlighting its potential as a target for immunotherapy.

RC3H1

KLF6, or Krüppel-Like Factor 6, is a transcription factor that belongs to the Krüppel-like family of zinc finger proteins. It plays key roles in regulating gene expression, cell proliferation, differentiation, apoptosis, and various biological processes related to development, tissue maintenance, and disease. KLF6 functions primarily as a transcriptional regulator by binding to specific DNA sequences called Krüppel-like factor binding sites, thereby influencing the transcriptional activity of target genes. Depending on the cellular environment, KLF6 can act as either a transcriptional activator or repressor.

KLF6

AXIN2 (Axin 2) is a gene that encodes a protein involved in the Wnt signalling pathway, a key regulator of cell growth, differentiation, and development. It acts as a negative regulator of this pathway, helping maintain normal cellular processes. Mutations in AXIN2 have been associated with cancers, including colorectal cancer, as well as developmental conditions such as tooth agenesis.

AXIN2

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 a vital role in immune responses, particularly in allergic reactions and asthma, where eosinophils function as key effector cells. Targeting IL5RA is a therapeutic strategy for diseases characterised by eosinophilia, offering potential treatments for severe asthma and other eosinophil-related disorders.

IL5RA

FCER1G (Fc Epsilon Receptor I Gamma): FCER1G is a key component of the high-affinity receptor for the Fc region of immunoglobulin E (IgE). It plays a vital role in allergic responses by contributing to the activation of mast cells and basophils. Variations in this gene can influence the severity and susceptibility to allergic diseases and asthma.

FCER1G

PSMA1 (Proteasome Subunit Alpha 1): PSMA1 is a protein that forms part of the proteasome, a cellular complex responsible for breaking down unwanted or damaged proteins. It is essential for protein quality control and overall cell regulation. Disruption of proteasome function, including alterations in PSMA1, has been linked to conditions such as cancer and neurodegenerative diseases.

PSMA1

PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is a protein involved in the production of coenzyme Q10, a vital molecule in the mitochondrial electron transport chain. It plays an essential role in cellular energy generation and antioxidant defence. Dysfunction of PDSS1 can result in coenzyme Q10 deficiency, which may contribute to various neuromuscular and neurodegenerative disorders.

PDSS1

FOXJ2 (Forkhead Box J2): FOXJ2 is a transcription factor from the forkhead box (FOX) family — a group of proteins that regulate gene expression involved in growth, cell proliferation, and differentiation. FOXJ2 is involved in multiple biological processes, and its dysregulation can disrupt developmental pathways and contribute to certain disease conditions.

FOXJ2

CCDC141 (Coiled-Coil Domain Containing 141): CCDC141 is a gene that encodes a protein involved in the formation and function of cilia and flagella—cellular structures essential for movement, fluid flow, and signalling. By supporting proper cilia organisation, CCDC141 influences processes such as cell motility, sensory perception, and developmental signalling. Mutations in this gene have been linked to ciliopathies, a group of disorders caused by dysfunctional cilia that can affect multiple organs.

CCDC141

CLGN (Calmegin): CLGN is a protein involved in sperm–egg fusion during fertilisation. It functions in the endoplasmic reticulum of the testis and is essential for male fertility. Mutations in CLGN can impair sperm development and function, potentially leading to infertility.

CLGN

RORA (RAR-Related Orphan Receptor A): RORA is a nuclear receptor involved in regulating circadian rhythms, immune responses, and neurodevelopment. It controls the expression of genes related to these processes and has been linked to conditions such as depression, bipolar disorder, and autoimmune diseases. Its functions in both the central nervous system and immune system underline its importance in maintaining health and preventing disease.

RORA

PLAAT1 (Phospholipase A And Acyltransferase 1): PLAAT1 is an enzyme involved in lipid metabolism, specifically in the remodelling of phospholipids within cell membranes. Although its exact physiological functions are not fully understood, PLAAT1 may play a role in cell signalling and membrane dynamics, with possible associations to metabolic and inflammatory processes.

PLAAT1

NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2 is a transcription factor, also known as COUP-TFII, that plays a key role in the development and function of multiple organs, including the heart and vascular system. It regulates genes involved in angiogenesis (the formation of new blood vessels) and metabolic processes. Abnormal NR2F2 activity is associated with developmental disorders and certain cancers, where it can affect tumour growth and metastasis.

NR2F2

MDFIC2: MDFIC2, or MyoD Family Inhibitor Domain Containing 2, is a gene that has not been extensively studied but is thought to be involved in muscle development and differentiation. It may play a role in regulating myogenic factors, which are essential for muscle cell growth and repair. Understanding the function of MDFIC2 could provide insights into muscle development disorders or muscle regeneration processes.

MDFIC2

SEC62 (SEC62 Homolog, Preprotein Translocation Factor): SEC62 is a gene involved in the translocation of proteins into the endoplasmic reticulum (ER). It plays a role in importing proteins into the ER lumen, aiding the correct folding and processing of secretory and membrane proteins.

SEC62

HPCAL1 (Hippocalcin Like 1): HPCAL1 is a calcium-binding protein similar to hippocalcin. It is involved in neuronal activity and plasticity by participating in calcium signalling pathways within nerve cells. These pathways are essential for memory and learning processes. Dysfunctions in HPCAL1 have been linked to neurological disorders, especially those affecting cognitive function.

HPCAL1

RGS6 (Regulator of G Protein Signalling 6): RGS6 is a member of the RGS family that plays a crucial role in regulating G protein-coupled receptor (GPCR) signalling pathways. It accelerates the GTPase activity of G protein α subunits, effectively switching off GPCR signalling and acting as a key modulator of signal transduction. This regulation is essential for various physiological processes, including sensory perception, cardiovascular control, and central nervous system function. By fine-tuning GPCR signalling, RGS6 helps control cellular responses to external stimuli.

RGS6

CSMD3 (CUB and Sushi Multiple Domains 3) is a gene that encodes a protein involved in cell adhesion and signalling. 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.

CSMD3

LEP (Leptin): LEP is a gene that encodes the hormone leptin, which is produced by adipose tissue and plays a key role in regulating energy balance and appetite. Leptin acts on the hypothalamus in the brain to suppress appetite and promote energy expenditure. Dysregulation of leptin or its receptor can lead to obesity and metabolic disorders, as it is essential for maintaining body weight and fat storage.

NCLN (Nicalin): NCLN is a component of the nicalin-NOMO (nodal modulator) complex, which plays a role in key cellular processes, including signalling pathways that regulate embryonic development and organ formation. Although its precise functions are still under investigation, NCLN is thought to help modulate pathways such as Nodal signalling, which is crucial for developmental patterning. Its role within this complex indicates potential involvement in developmental disorders and diseases linked to dysregulated signalling pathways.

NCLN

PHF14 (PHD Finger Protein 14): PHF14 is a gene that encodes a protein containing a PHD finger domain. This indicates 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.

PHF14

ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. Its specific function is still under investigation, but it may be involved in proteolytic processes within cells. Ongoing research seeks to better understand its roles and potential implications.

ASPRV1

SORCS2 (Sortilin-Related VPS10 Domain Containing Receptor 2): SORCS2 is a receptor involved in neuronal development and signalling. As a member of the VPS10 domain-containing receptor family, it plays important roles in neurotrophic signalling and neural plasticity. Dysregulation of SORCS2 has been associated with neurological disorders such as Alzheimer’s disease and schizophrenia.

SORCS2

MSRA (Methionine Sulfoxide Reductase A): MSRA is an enzyme that helps protect cells from oxidative stress by repairing oxidatively damaged proteins. It reduces methionine sulfoxide back to methionine, supporting protein function and overall cellular health. Its antioxidant activity is important for healthy ageing and may play a role in preventing diseases linked to oxidative damage, including neurodegenerative disorders.

MSRA

ZNF516 (Zinc Finger Protein 516): ZNF516 is a KRAB zinc finger protein, indicating a role in DNA binding and transcriptional regulation. It is involved in the regulation of cardiac genes and has been studied in relation to cardiovascular diseases. Dysregulation of ZNF516 may affect heart development and function, with potential implications for heart disease and heart failure.

ZNF516

PDIA5 (Protein Disulfide Isomerase Family A, Member 5): PDIA5 is a protein that plays a key role in the folding and maturation of other proteins within the endoplasmic reticulum. It assists in the formation and rearrangement of disulfide bonds, which are essential for proper protein structure and stability. Proper PDIA5 function is critical for protein quality control, and its dysregulation has been linked to protein misfolding diseases, including diabetes and neurodegenerative disorders.

PDIA5

GNAQ (G Protein Subunit Alpha Q): GNAQ is a subunit of G proteins that plays a crucial role in transmitting signals from the cell surface to the interior. Mutations in GNAQ have been linked to certain tumours, including uveal melanoma, as well as Sturge-Weber syndrome, a disorder affecting the skin and nervous system.

GNAQ

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 cellular cholesterol distribution, affecting membrane composition, signalling pathways, and potentially contributing to atherosclerosis.

STARD3

IL34 (Interleukin 34): IL34 is a cytokine that plays a crucial role in regulating immune responses. It is involved in the differentiation and survival of specific myeloid cells, including macrophages. Abnormal levels of IL34 have been associated with inflammatory conditions, autoimmune diseases, and cancer.

IL34

JAG1 (Jagged 1): JAG1 is a key ligand in the Notch signalling pathway, involved in regulating cell fate and tissue development. Mutations in JAG1 can cause Alagille syndrome, a disorder affecting the liver, heart, and other organs. Through its role in Notch signalling, JAG1 also contributes to processes such as vascular development, blood cell formation, and cancer progression.

JAG1

IL4R (Interleukin 4 Receptor): IL4R is a receptor for the cytokine interleukin 4 (IL4), which plays a key role in the differentiation of naïve T cells into Th2 cells. IL4R signalling 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 other allergic conditions, making IL4R an important target for therapeutic intervention.

IL4R

PMM1 (Phosphomannomutase 1): PMM1 is an enzyme involved in the mannose pathway, playing a crucial role in glycosylation — a process essential for the proper function and stability of numerous proteins. Mutations in PMM1 can lead to congenital disorders of glycosylation, affecting multiple systems, including neurological and immune functions.

PMM1

CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): CSGALNACT1 is a gene that plays a crucial role in the biosynthesis of chondroitin sulphate, an essential component of the extracellular matrix in cartilage. It is important for cartilage development and proper joint function, and alterations in its activity have been associated with skeletal disorders and joint diseases.

CSGALNACT1

POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor that belongs to the POU family, a group of proteins recognised for their roles in developmental processes and cell type–specific gene expression. While the specific functions of POU5F2 are not fully characterised, it may play a role in regulating gene expression in certain developmental or cellular contexts.

POU5F2

GRINA (Glia Derived Nexin): GRINA is a protein that represents a key component of the central nervous system, particularly involved in neuroprotection and the regulation of neuronal excitability. It interacts with NMDA (N-methyl-D-aspartate) receptors, which are essential for synaptic plasticity, memory formation, and learning. GRINA’s function is linked to its ability to modulate these receptors, influencing neurodevelopment and neural response mechanisms. Dysregulation of GRINA has been associated with neurological disorders such as Alzheimer’s disease, epilepsy, and schizophrenia.

GRINA

ZSCAN31 (Zinc Finger And SCAN Domain Containing 31): ZSCAN31 is a member of the zinc finger protein family, which plays a crucial role in DNA binding and the regulation of gene transcription. Although the specific functions of ZSCAN31 are still under investigation, zinc finger proteins are vital for developmental processes, cellular differentiation, and the control of gene expression. Research on ZSCAN31 seeks to elucidate its role in genetic regulation, chromosomal stability, and potential associations with diseases, including cancer.

ZSCAN31

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 organisation of intracellular transport systems. Its function in cellular logistics is important for maintaining cell homeostasis and may have implications for neurodegenerative diseases and disorders affecting protein transport and secretion.

TXLNA

PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme belonging to the paraoxonase family. This enzyme plays a crucial role in detoxification and antioxidant defence, helping to protect the body against oxidative stress and lipid peroxidation. PON2 is therefore important for cardiovascular health and other conditions related to oxidative stress.

PON2

KIAA0825: KIAA0825 is a gene that has been less extensively characterised, with limited information currently available about its function. Genes in the KIAA series were originally identified through large-scale sequencing initiatives and are believed to be involved in various cellular processes and disease mechanisms, although further research is required to fully elucidate their functions.

KIAA0825

JAKMIP2 (Janus Kinase And Microtubule Interacting Protein 2): JAKMIP2 is a protein involved in the regulation of Janus kinase (JAK) signalling pathways, which are essential for key cellular processes such as immune function and cell growth. Dysregulation of JAKMIP2 can affect immune responses and may have implications in autoimmune disorders and cancer.

JAKMIP2

SCGN (Secretagogin): SCGN is a gene that encodes a calcium-binding protein predominantly expressed in neuroendocrine cells. It plays a role in regulating hormone secretion and cellular signalling. SCGN may also contribute to neuroprotective mechanisms and has been studied for its potential involvement in neurological disorders, including Alzheimer’s disease.

SCGN

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.

ADRB2

MAPT (Microtubule Associated Protein Tau): MAPT is a gene that encodes the tau protein, which helps to stabilise microtubules in neurons. Abnormal tau aggregation is associated with neurodegenerative diseases such as Alzheimer’s disease and frontotemporal dementia, making MAPT a key focus of research into neuronal health and disease mechanisms.

MAPT

TRAF5 (TNF Receptor-Associated Factor 5): TRAF5 is a gene that encodes a protein belonging to the TRAF family, which mediates signal transduction from receptors such as TNF and Toll-like receptors. TRAF5 plays a key role in activating the NF-κB pathway, which is essential for immune regulation, cell survival, and differentiation. Dysregulation of TRAF5 may contribute to autoimmune diseases and represents a potential target for therapeutic intervention in immune disorders.

TRAF5

PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 (Phosphatase and Actin Regulator 2) is a gene involved in regulating key cellular processes, including cell signalling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, playing a role in organising actin filaments and maintaining cell shape. PHACTR2 is involved in processes such as cell migration and may contribute to neuronal development.

PHACTR2

NR1H3: NR1H3 is a gene that encodes the liver X receptor alpha (LXRα), a nuclear receptor that regulates the expression of genes involved in cholesterol and lipid metabolism. It plays a key role in maintaining cholesterol balance and has been linked to the development of atherosclerosis and other metabolic disorders.

NR1H3

TPSB2 (Tryptase Beta 2): TPSB2 is a gene that encodes a protein belonging to the serine protease family, specifically a type of tryptase. This protein is primarily found in mast cells and plays a role in allergic responses, inflammation, and immune regulation. Elevated TPSB2 levels are associated with allergic reactions and certain mast cell-related disorders.

TPSB2

MON1B (Mon1 Homolog B): MON1B is a protein involved in intracellular trafficking and autophagy, two vital processes for maintaining cellular homeostasis and responding to stress. It plays a role in regulating vesicle transport and is linked to neurodegenerative diseases and metabolic disorders.

MON1B

PCDH15 (Protocadherin 15): PCDH15 is a gene that encodes a member of the protocadherin family, which plays a key role in cell-to-cell adhesion and neuronal connectivity. PCDH15 is essential for the proper functioning of sensory hair cells in the inner ear, and mutations in this gene are linked to hearing impairment and deafness.

PCDH15

KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that transports cargo along microtubules, playing a vital role in intracellular transport, particularly in neurons. It is crucial for the anterograde movement of molecules such as NMDA receptors to synaptic sites, affecting synaptic plasticity and memory formation. Dysregulation of KIF17 has been linked to neurological disorders, underscoring its significance in neuronal function and health.

KIF17

EXOC5 (Exocyst Complex Component 5): EXOC5 is a gene that encodes a protein component of the exocyst, a complex involved in vesicle trafficking. It plays a key role in directing vesicles to specific sites on the plasma membrane, supporting processes such as cellular communication, secretion, and membrane growth.

EXOC5

ADRB3 (Adrenoceptor Beta 3): ADRB3 is a gene that encodes a beta-adrenergic receptor, primarily expressed in adipose tissue. It plays a key role in regulating lipolysis and thermogenesis, contributing to energy expenditure and body weight management. Variants of this gene have been studied for their potential influence on obesity and metabolic health.

ADRB3

NUAK1 (NUAK Family SnF1-Like Kinase 1): NUAK1 is a gene that encodes a protein kinase involved in regulating the cell cycle and energy metabolism. It plays a role in cell growth, migration, and survival, and ongoing research is exploring its potential impact on cancer progression and metabolic disorders.

NUAK1

NT5C2 (5'-Nucleotidase, Cytosolic II): NT5C2 is an enzyme that helps regulate nucleotide levels within cells, particularly in purine metabolism. It has been linked to chemotherapy resistance in certain leukaemias and may contribute to purine metabolism disorders.

NT5C2

KIF2B (Kinesin Family Member 2B): KIF2B is a protein that plays a crucial role in microtubule dynamics, which are essential for accurate chromosome segregation during cell division. As a member of the kinesin motor protein family, KIF2B is important for intracellular transport and cell movement. Dysfunction of KIF2B can result in mitotic errors and may have potential implications in cancer.

KIF2B

TCB2N (Testis and Ciliary Pathway 2 Neighbour): TCB2N is a gene that is potentially involved in testicular function and ciliary processes. Its name suggests a role in spermatogenesis or ciliary movement. While its exact functions are not fully understood, ongoing research aims to clarify its contributions to human physiology.

TCB2N

NPC1 (Niemann-Pick Disease, Type C1): NPC1 is a gene that plays a crucial role in the transport of cholesterol within cells. Mutations in NPC1 cause Niemann-Pick disease type C, a rare genetic condition characterised by the accumulation of cholesterol and other lipids in cells, leading to neurodegeneration and liver dysfunction.

NPC1

RNF144B (Ring Finger Protein 144B): RNF144B is a gene that encodes a protein belonging to the RING finger family, which is involved in regulating protein degradation and cellular signalling. Its RING domain provides E3 ubiquitin ligase activity, allowing it to tag proteins for degradation through the ubiquitin-proteasome system. RNF144B plays a key role in maintaining protein balance and proper cellular function.

RNF144B

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 affects energy production.

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