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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

BMP6 (Bone Morphogenetic Protein 6): BMP6 is a member of the bone morphogenetic protein (BMP) family, which plays a key role in the development and repair of bone and cartilage. It is involved in essential cellular processes such as cell growth, apoptosis, and differentiation. BMP6 has been studied for its role in osteogenesis and is also associated with cancer progression.



BMP6

PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is associated with guanine nucleotide exchange factors that activate ARF GTPases, key players in vesicle formation and trafficking. Dysfunction in PSD3 may impact cellular communication and transport processes.

PSD3

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.

RUNX3

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 potential as a therapeutic target, with insights into its mechanisms offering opportunities for innovative treatments of these conditions.

TSLP

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 is a protein that plays a key role in the PI3K signaling pathway. This pathway is essential for various cellular processes such as cell growth, proliferation, and survival. PIK3AP1’s involvement in immune cell signaling makes it important in research related to immunity, inflammation, and cancer biology.



PIK3AP1

RGS18 (Regulator of G Protein Signaling 18): RGS18 is a protein that reflects the regulation of G protein-coupled receptor signaling, particularly in hematopoietic cells. It plays important roles in platelet function and immune responses, and its dysregulation may affect blood coagulation and contribute to immune system disorders.

RGS18

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a vital role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.

RAB11FIP2

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule primarily expressed in the limbic system of the brain. It plays a key role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in relation to neuropsychiatric disorders and may have implications for conditions such as schizophrenia.

LSAMP

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, oxidative stress, and inflammation, and is linked to various diseases, including cancer, due to its influence on cell growth and programmed cell death.



MT1X

AK9 (Adenylate Kinase 9): Adenylate is a gene that encodes an enzyme from the adenylate kinase family, which catalyzes the reversible transfer of phosphate groups between adenine nucleotides, mainly ATP and AMP. AK9 localizes to the mitochondria, where it supports energy metabolism and nucleotide balance. By facilitating ATP-AMP interconversion, it helps regulate cellular energy levels and contributes to processes such as mitochondrial function, apoptosis, and stress responses. Dysregulation of AK9 may impact metabolic and cellular homeostasis.

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 developmental biology and for exploring treatments for related congenital disorders.




PITX2

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 thrombosis and hemostasis. Dysregulation of P2RY1 signaling is associated with an increased risk of cardiovascular diseases, underlining its significance in vascular health.


P2RY1

TBX2 (T-Box Transcription Factor 2): TBX2 is a gene that encodes a transcription factor belonging to the T-box family. It plays a key role in embryonic development and tissue differentiation, particularly in heart formation and limb development.



TBX2

PCDH7 (Protocadherin 7): PCDH7 is a gene that encodes a protein from the cadherin superfamily, involved in cell adhesion and neuronal connectivity. It plays a role in nervous system development and the maintenance of synaptic functions. Variations in PCDH7 have been linked to neurodevelopmental and psychiatric conditions, highlighting its importance in brain development and function.

PCDH7

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 immune-related disorders.


SVEP1

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1 is a signaling protein, also known as HPK1 (Hematopoietic Progenitor Kinase 1), and a member of the STE20 kinase family. It plays an important role in immune cell signaling, regulating T cell activation and differentiation by acting upstream in the MAP kinase pathway. Through its role in modulating immune responses, MAP4K1 is considered a potential target for immunotherapy, particularly in autoimmune disorders and cancer.

MAP4K1

R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a gene that is less well characterized but is believed to be involved in RNA binding and regulation. Its domain structure suggests a role in RNA metabolism and cellular processes. Although its precise functions are still being studied, R3HCC1L may have implications for human health and disease.

R3HCC1L

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 is a gene that encodes a member of the two-pore domain potassium (K⁺) channel family. It plays an important role in ion channel function and is involved in regulating cellular excitability and membrane potential.

KCNK17

SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a key regulator of histone acetylation and chromatin remodeling. SETBP1 is involved in gene regulation and has been linked to developmental disorders and leukemia.

SETBP1

PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is a gene that encodes an RNA-binding protein involved in RNA splicing and regulation of gene expression. It plays a key role in neuronal development and has been implicated in neurodevelopmental disorders.

PTBP2

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.

DRD1

DRD3 (Dopamine Receptor D3): DRD3 is a gene that encodes a dopamine receptor subtype expressed in the brain. It is involved in regulating cognitive, emotional, and motor functions. Variants in DRD3 have been studied for their potential roles in schizophrenia, Parkinson’s disease, and susceptibility to addictive behaviors.



DRD3

LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a key role in regulating gene expression in heart muscle cells, influencing the development, structure, and maintenance of cardiac tissue. Alterations or dysfunctions in LMCD1 may impact heart performance and are associated with cardiovascular diseases, highlighting its importance in understanding cardiac disorders and potential therapeutic targets.

LMCD1

TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is a gene that encodes a protein associated with the translocator protein (TSPO), which is involved in mitochondrial function and steroidogenesis. It plays a role in regulating cholesterol transport and mitochondrial respiration. While its specific functions are still being studied, TSPOAP1 may influence cellular energy metabolism and could have implications for neurodegenerative diseases and mood disorders.

TSPOAP1

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-terminal acetylation is a common and important post-translational modification. Studying NAA38 and similar enzymes helps reveal regulatory mechanisms of protein function and the impact of protein acetylation on cellular processes and disease.

NAA38

MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a key regulator of heart muscle contraction. Variants in this gene are a frequent cause of hypertrophic cardiomyopathy, a major contributor to sudden cardiac death, particularly in young athletes. It plays a critical role in maintaining normal cardiac muscle structure and function.

MYBPC3

PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway that regulates the rate of glucose metabolism. It catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is essential for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly observed.

PFKP

ILRUN, also known as interleukin-like RUN domain-containing protein, is a recently discovered protein that plays a role in immune regulation. Positioned within the cytoplasm, ILRUN contains a RUN domain, which facilitates protein-protein interactions. Although its exact function is still being studied, ILRUN is believed to modulate immune responses, potentially affecting cytokine production, immune cell activation, and inflammatory processes. It has also been suggested as a potential biomarker for certain immune-related or inflammatory conditions.

ILRUN

CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that belongs to the C-type lectin-like receptor family. It plays an important role in the immune system by participating in cell signaling pathways that regulate immune responses, especially in myeloid cells. CLEC12A has been studied extensively for its involvement in inflammation and leukemia.

CLEC12A

NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is a gene that encodes a protein involved in maintaining mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, supporting proper mitochondrial function and energy production in cells.

NSMCE1

CA2 (Carbonic Anhydrase II): CA2 is a gene that encodes an enzyme crucial for regulating pH and fluid balance in various tissues, including the kidney. It catalyzes the reversible hydration of carbon dioxide, supporting respiratory gas exchange and acid-base balance. Mutations in CA2 can affect bone and kidney function, contributing to conditions such as osteopetrosis and renal tubular acidosis.

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.

P2RY12

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial function, specifically in importing proteins into the mitochondria. As part of the TOM complex, TOMM40 helps transport nuclear-encoded proteins across the outer mitochondrial membrane so they can carry out essential roles inside the mitochondria. Variants of TOMM40 are notably linked to Alzheimer's disease, influencing the risk and age of onset. It has also been associated with other neurodegenerative disorders and age-related cognitive decline.

TOMM40

RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is a gene that encodes a protein involved in intracellular membrane trafficking by regulating RAB GTPases. It plays a key role in vesicle transport and overall cellular logistics. Dysregulation of RABGAP1L may disrupt cellular transport mechanisms and has been studied in relation to neurological disorders, where proper membrane trafficking is essential for neuronal function.

RABGAP1L

C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47 is a gene located on chromosome 6 that is relatively less characterized. As an open reading frame, it may encode a protein, though its precise functions remain unclear. Research on C6ORF47 may reveal new insights into cellular processes and help expand our understanding of the human genome.

C6ORF47

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1 is a transmembrane protein of the polycystic kidney disease family, mainly found in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays an essential role in chemosensation and mechanosensation, especially in detecting sour taste. Acting as a non-selective cation channel, PKD2L1 enables ion influx in response to extracellular stimuli, triggering cellular responses. It is also involved in processes such as gastrointestinal sensory signaling and blood pressure regulation.




PKD2L1

MYEOV (Myeloma Overexpressed Gene): MYEOV is a gene that is often overexpressed in multiple myeloma and other cancers. It is thought to contribute to cancer cell proliferation and survival, making it a potential target for cancer therapy.

MYEOV

LPCAT2 (Lysophosphatidylcholine Acyltransferase 2): LPCAT2 is an enzyme that plays a crucial role in the biosynthesis and remodeling of phospholipids, key components of cellular membranes. Located mainly in the endoplasmic reticulum, LPCAT2 regulates lipid metabolism and helps maintain membrane integrity. It catalyzes the acylation of lysophosphatidylcholine (LPC) to produce phosphatidylcholine (PC), an essential phospholipid in cell membranes, influencing membrane composition and function.

LPCAT2

MYO18A (Myosin XVIIIA): MYO18A is a protein that reflects a unique type of myosin in the body. It plays important roles in cytoskeleton organization and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are associated with muscle disorders and may be linked to certain forms of cancer.


MYO18A

ID4 (Inhibitor Of DNA Binding 4, HLH Protein): ID4 is a regulator that influences gene transcription by controlling cell differentiation and proliferation. It belongs to the ID protein family, which modulates various developmental processes by inhibiting the binding of basic helix-loop-helix (bHLH) transcription factors. ID4 is involved in the development of several cancers, where it can function either as a tumor suppressor or an oncogene depending on the context. Studying ID4 provides important insights into cellular differentiation, stem cell biology, and cancer.

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that reflects the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a key role in maintaining proper mitochondrial calcium levels, which are essential for energy production, cell survival, and overall mitochondrial function.

MCUR1

PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene that encodes a protein involved in chromatin organization and gene regulation. Its PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B may be linked to developmental disorders and cancers due to its impact on gene expression.

PWWP3B

POU2F3 (POU Class 2 Homeobox 3): POU2F3 is a transcription factor that regulates the differentiation of epithelial cells, particularly in the skin and sensory organs. It is essential for the formation of tuft cells — specialized chemosensory cells in the respiratory and digestive tracts — and is also associated with the development of certain squamous cell carcinomas.

POU2F3

OLFM4 (Olfactomedin 4): OLFM4 is a gene that encodes a secreted protein expressed in various tissues, including the gastrointestinal tract. While its functions are not fully understood, OLFM4 is associated with the regulation of stem cell proliferation and differentiation in the gut, indicating a potential role in tissue regeneration and maintenance.

OLFM4

LURAP1 (Leucine Rich Adaptor Protein 1): LURAP1 is a gene that encodes a leucine-rich protein believed to be involved in signal transduction pathways. While its exact functions are not fully understood, LURAP1 may play a role in regulating cellular processes such as cell migration and cytoskeletal organization.

LURAP1

CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 is a protein that belongs to the metallo-carboxypeptidase family and is involved in extracellular matrix remodeling. It contributes to cell adhesion, migration, and key physiological processes such as wound healing and inflammation. Dysregulation of CPXM1 may be linked to tissue remodeling disorders and certain cancers.



CPXM1

RGS7 (Regulator of G Protein Signaling 7): RGS7 is a protein that regulates G protein-coupled receptors (GPCRs) and modulates their signaling pathways. It plays an important role in neuronal function and has been linked to various neurological disorders.




RGS7

APOE (Apolipoprotein E): APOE is a protein primarily produced by the liver and astrocytes in the brain that plays a key role in lipid metabolism and transport, especially in the central nervous system (CNS). It helps clear lipoproteins from circulation and redistributes cholesterol and other lipids to cells through interactions with cell surface receptors. APOE exists in three common isoforms—APOE2, APOE3, and APOE4—each affecting lipid metabolism differently, with APOE4 having particular implications for disease risk.

APOE

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that encodes a protein belonging to the Tweety family. This protein is known to have ion channel activity, particularly involving chloride ions. Proteins in the Tweety family play important roles in ion transport across cell membranes, contributing to cellular homeostasis, regulation of cell volume, and maintenance of ion balance. While the full functions of TTYH2 are still under investigation, it may have significant roles in cellular physiology.

TTYH2

MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8  is a gene that encodes a protein involved in matrix remodeling, an important process for tissue development and repair. While its specific functions are still being studied, MXRA8’s role in extracellular matrix interactions suggests it may contribute to tissue homeostasis and regeneration, with potential implications for tissue engineering and regenerative medicine.

MXRA8

ORM1, also known as Orosomucoid 1 or Alpha-1-acid glycoprotein 1, is a glycoprotein primarily produced in the liver and released into the bloodstream. It is part of the acute-phase reactant proteins, which are synthesized in response to inflammation, infection, or tissue injury. ORM1 plays a key role in modulating the immune response and inflammation. During acute-phase reactions, its production is increased by pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α). ORM1 helps regulate inflammation by binding to various molecules, including drugs, hormones, and lipids, and influencing their distribution.


ORM1

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 marked by the premature fusion of skull bones, highlighting its importance in craniofacial development. Studying TCF12 provides valuable insights into developmental biology and the genetic basis of congenital disorders.



TCF12

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.



TGFB2

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 potential target in cancer therapy and an important factor in maintaining cellular homeostasis.

ZNF516

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 cell migration and invasion in cancer.

SCIN

PDE3B (Phosphodiesterase 3B): PDE3B is an enzyme that plays a key role in regulating lipid and glucose metabolism. It is involved in breaking down cyclic AMP (cAMP), a signaling molecule, thereby influencing processes such as lipolysis and insulin secretion. Dysregulation of PDE3B has implications for metabolic disorders, including obesity and diabetes.



PDE3B

LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 is a protein that reflects mitochondrial quality control in the cell. It encodes a mitochondrial protease responsible for degrading damaged or misfolded mitochondrial proteins. Proper LONP2 function is essential for maintaining mitochondrial health, and impairments can contribute to mitochondrial disorders and aging-related diseases.

LONP2

LRRC4C (Leucine Rich Repeat Containing 4C): LRRC4C is a protein, also known as NGL-1, that plays a role in neural development, particularly in the formation and regulation of synaptic connections. It has been studied for its potential involvement in neurodevelopmental disorders.

LRRC4C

NRG1 (Neuregulin 1): NRG1 is a signaling protein that plays a key role in neural development and synaptic plasticity. It is essential for the proper formation and function of the nervous system and has been associated with various neurological and psychiatric disorders, including schizophrenia.

NRG1

PDE8B (Phosphodiesterase 8B): PDE8B is a gene that encodes the phosphodiesterase 8B enzyme. Like PDE10A, it helps regulate cyclic nucleotide signaling, though its roles can differ across tissues and cell types. PDE8B may influence a variety of physiological processes.

PDE8B

INPPL1 (Inositol Polyphosphate Phosphatase-Like 1): INPPL1,also known as SHIP2 (Src Homology 2 domain-containing Inositol Phosphatase 2), is an enzyme that plays a key role in regulating phosphoinositide signaling pathways in the body. These pathways are essential for controlling cellular processes such as proliferation, survival, and migration. INPPL1 specifically removes a phosphate group from the 5' position of phosphatidylinositol 3,4,5-trisphosphate (PIP3), acting as a negative regulator of the PI3K (phosphoinositide 3-kinase) signaling pathway. Its activity is important for modulating insulin signaling and maintaining glucose balance, making it a significant factor in metabolic regulation and a potential therapeutic target.

INPPL1

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is a protein that regulates metalloproteinases, enzymes responsible for breaking down components of the extracellular matrix. TIMP4 plays a key role in tissue remodeling and is important for processes such as wound healing and angiogenesis.


TIMP4

AFF3 (AF4/FMR2 Family Member 3): AFF3 is a gene involved in transcriptional regulation and chromatin organization. It belongs to the AF4/FMR2 family, which plays roles in controlling gene expression. AFF3 may help regulate gene transcription, influencing the development and function of various cell types.

AFF3

PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signaling and regulation of tyrosine phosphorylation. It contributes to processes such as cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been linked to cancer progression and certain neuronal disorders.

PTPRM

NAV3 (Neuron Navigator 3): NAV3 is a gene involved in neuronal migration and axonal guidance, playing an important role in brain development. As part of the neuron navigator family, it contributes to the proper formation of neural networks. Changes in NAV3 have been associated with neurological disorders such as Alzheimer’s disease and schizophrenia, highlighting its importance in maintaining neural structure and function.

NAV3

LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is a protein that reflects the role of the LIN7 family in establishing and maintaining cell polarity. It is essential for proper cell function and tissue organization, particularly in neural and epithelial cells. Mutations or dysregulation of LIN7C can disrupt cell polarity and signaling, potentially contributing to developmental abnormalities or disease.

LIN7C

MUC1 (Mucin 1): MUC1 is a gene that encodes a glycoprotein present on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It plays important roles in protection, lubrication, and cell signaling. Abnormal expression of MUC1 is linked to the development of several cancers.


MUC1

PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a key growth factor involved in cell signaling and tissue repair. As part of the platelet-derived growth factor (PDGF) family, it plays an essential role in promoting cell proliferation, migration, wound healing, tissue remodeling, and the formation of new blood vessels (angiogenesis).

PDGFB

NRXN1 (Neurexin 1): NRXN1 is a neuronal cell adhesion molecule that reflects its role in synapse formation and function. It is essential for proper neural communication and has been associated with several neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability.



NRXN1

PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene that plays a role in key cellular processes, including cell division and gene regulation. It contains proline-rich domains and coiled-coil regions, which are important for protein-protein interactions. While its precise functions are still being studied, PRRC2A is associated with certain cancers and may influence cell growth and differentiation.

PRRC2A

TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and plays a role in transcriptional regulation. It has been studied in connection with breast cancer, as genetic variants in TOX3 have been linked to an increased risk of developing the disease.

TOX3

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins required for proper mitochondrial function and energy generation. Defects in MRPS31 can result in mitochondrial disorders that impact multiple body systems.


MRPS31

NUDT2 (Nudix Hydrolase 2): NUDT2 is an enzyme that regulates the balance of diadenosine polyphosphates, molecules involved in cellular signaling. It plays a key role in maintaining proper levels of these signaling molecules, which is important for various cellular processes, including stress responses and energy metabolism.


NUDT2

CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G is a member of the CaMK kinase family involved in calcium signaling pathways. This kinase is activated by calcium influx and calmodulin binding, triggering the phosphorylation of various proteins that regulate processes such as gene expression, cell cycle progression, and synaptic transmission. CAMK1G plays a key role in neuronal function and plasticity, contributing to learning and memory. Dysregulation of CAMK1G activity has been linked to neurological disorders, highlighting its critical role in maintaining neuronal health and signaling balance.



CAMK1G

CCDC171 (Coiled-Coil Domain Containing 171): CCDC171 is a gene characterized by the presence of a coiled-coil domain, which suggests a role in protein-protein interactions. While its specific function is not fully understood, genes with similar domains are commonly involved in cellular processes such as vesicle transport, cell division, and signal transduction.



CCDC171

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 is a protein that reflects the regulation of actin cytoskeleton dynamics, cell morphology, and motility through its control of Rho GTPases. These GTPases are essential regulators of cellular processes including vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27’s role in modulating cell adhesion and migration is particularly important for tissue development, wound healing, and processes such as tumor progression and metastasis.




ARHGAP27

KLF14 (Krüppel-Like Factor 14): KLF14 is a transcription factor from the Krüppel-like factor family that regulates gene expression linked to key cellular processes. It plays an important role in metabolic regulation, particularly in adipocyte differentiation and lipid metabolism, affecting how the body stores and uses fats. KLF14 also contributes to glucose balance and insulin sensitivity, with dysregulation linked to metabolic disorders such as obesity and type 2 diabetes.

KLF14

INSIG1 (Insulin-Induced Gene 1): INSIG1 is a protein encoded by the INSIG1 gene that plays a key role in regulating lipid metabolism and cholesterol balance within cells. INSIG1 acts as a critical mediator of the feedback mechanism controlling cholesterol synthesis and uptake. It functions by binding to and inhibiting sterol regulatory element-binding proteins (SREBPs), transcription factors essential for the expression of genes involved in cholesterol and fatty acid production. By regulating SREBP activity, INSIG1 helps maintain proper cellular lipid levels and prevents excessive cholesterol accumulation.

INSIG1

TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is a protein involved in the regulation of gene transcription, particularly during the elongation phase of RNA polymerase II activity. It plays a key role in ensuring accurate gene expression and influences the transcription of specific genes, thereby affecting cellular processes such as development and stress response. Understanding TCERG1L helps clarify the mechanisms of gene regulation and their relevance to diseases linked to transcriptional dysregulation.



TCERG1L

PTHLH (Parathyroid Hormone Like Hormone): PTHLH is a protein that plays a key role in bone and cartilage development. It acts similarly to parathyroid hormone and is involved in regulating bone remodeling and maintaining calcium homeostasis.

PTHLH

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 important factor in cell differentiation and disease development, presenting potential targets for therapeutic intervention.



CELF2

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function is still under investigation, MFSD10 may play a role in nutrient transport and the maintenance of cellular homeostasis.

MFSD10 

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.

RAP2B

KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3): KCNMB3 is part of a family of calcium-activated potassium channels that help regulate neuronal excitability and vascular tone. This gene is important for blood pressure control and cardiovascular function, and variations in KCNMB3 may be associated with hypertension and heart disease.

KCNMB3

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10 is a member of the MAP3K family, also known as MLK2 (Mixed Lineage Kinase 2). This kinase plays a key role in cellular signaling pathways that regulate cell proliferation, differentiation, and apoptosis. MAP3K10 acts as an upstream activator of the MAP kinase (MAPK) cascade, translating extracellular signals into cellular responses. It is essential for neuronal function, immune regulation, and stress response, and dysregulation of MAP3K10 has been linked to various physiological and pathological conditions.



MAP3K10

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.

INAVA

OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein involved in cell adhesion and signaling. It has been identified as a tumor suppressor, with its expression often reduced in various cancers, indicating a protective role against tumor development and progression.



OPCML

CLOCK (Circadian Locomotor Output Cycles Kaput): CLOCK is a gene that plays a key role in regulating circadian rhythms — the physical, mental, and behavioral changes that follow a 24-hour cycle. It helps control sleep-wake patterns and various physiological processes, including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, contributing to sleep disorders, metabolic syndrome, and mood disturbances.

CLOCK

SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9): SCN9A encodes a voltage-gated sodium channel (NaV1.7) that is highly expressed in the peripheral nervous system, especially in pain-sensing neurons (nociceptors). Mutations in SCN9A can cause gain- or loss-of-function effects, leading to conditions such as erythromelalgia or congenital insensitivity to pain. As a key modulator of pain sensation, NaV1.7 is an important target for developing new analgesics.

SCN9A

CDKN2B (Cyclin-Dependent Kinase Inhibitor 2B): CDKN2B is a gene that plays a key role in regulating the cell cycle by inhibiting cyclin-dependent kinases. It is essential for controlling the G1 phase of the cell cycle and preventing uncontrolled cell proliferation. Loss of CDKN2B function is commonly observed in various cancers, highlighting its role as a tumor suppressor and its potential as a target for cancer therapies.


CDKN2B

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 conditions, making it an important focus of therapeutic research.

TNFAIP3

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a key enzyme in the folate metabolism pathway, catalyzing the conversion of tetrahydrofolate (THF) derivatives into forms used for the synthesis of DNA, RNA, and amino acids. It plays a vital role in one-carbon metabolism, influencing cellular methylation reactions and nucleotide production. Mutations or dysregulation of MTHFD1 can disrupt folate metabolism and are associated with an increased risk of congenital defects, cardiovascular diseases, and cancer.




MTHFD1

MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a key role in the mitochondrial one-carbon metabolic pathway. It is essential for nucleotide biosynthesis, methylation reactions, and amino acid homeostasis. MTHFD2 is highly expressed in rapidly dividing cells, including cancer cells, where it supports the production of purines and thymidylate, critical for DNA replication and repair. Its role in cellular metabolism and proliferation underscores its importance in growth and development, and its selective expression in tumors makes it a potential therapeutic target.

MTHFD2

PDE5A (Phosphodiesterase 5A): PDE5A is a gene that encodes an enzyme specifically targeting cyclic GMP (cGMP), a key second messenger in various biological processes. PDE5A plays an important role in regulating vascular smooth muscle, and its inhibitors are commonly used to treat erectile dysfunction and pulmonary hypertension. Research on PDE5A is significant for cardiovascular and urogenital health.

PDE5A

LANCL1 (LanC Like 1): LANCL1 is a gene that encodes a protein containing LanC (Lantibiotic Synthetase Component C-like) domains. Proteins with these domains are often involved in key cellular processes, including signal transduction, protein-protein interactions, and cellular regulation. The precise functions of LANCL1 are still being studied, and further research is needed to fully understand its role in cellular biology.

LANCL1

LAMP3 (Lysosomal Associated Membrane Protein 3): LAMP3 is a protein involved in lysosomal function and cell signaling. It plays a key role in the immune response, particularly in antigen presentation. Elevated levels of LAMP3 have been observed in various types of cancers, indicating a potential role in tumor progression and metastasis.

LAMP3

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 been associated with an increased risk of autoimmune diseases such as rheumatoid arthritis, type 1 diabetes, and systemic lupus erythematosus, highlighting its central role in immune regulation.

PTPN22

TPH2 (Tryptophan Hydroxylase 2): TPH2 is an enzyme that is crucial for the production of serotonin, a neurotransmitter that helps regulate mood, sleep, and appetite. TPH2 is mainly found in the brain and is key to central serotonin synthesis. Variations in the TPH2 gene have been associated with psychiatric disorders such as depression and bipolar disorders.

MAN1A2

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