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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

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that belongs to the Tweety family of proteins. While the exact functions of TTYH2 are not fully elucidated, it is known to encode a protein with ion channel activity. The Tweety family of proteins has been associated with ion transport across cell membranes, particularly involving chloride ions. These ion channels are thought to play a role in cellular homeostasis and may be involved in processes such as regulation of cell volume and ion balance. Further research is needed to fully understand the specific functions and significance of TTYH2 in cellular physiology and potential...




TTYH2

NT5C2 (5'-Nucleotidase, Cytosolic II): NT5C2 is an enzyme that regulates nucleotide levels in cells, particularly involved in purine metabolism. It has been linked to resistance to chemotherapy in certain leukemias and has implications in purine metabolism disorders....



NT5C2

SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a component of the COPII complex, which is involved in protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus. It plays a crucial role in the secretion of proteins and the maintenance of cellular organelle integrity. Mutations in SEC31B can disrupt protein transport and lead to ER stress-related disorders....

SEC31B

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10, also known as MLK2 (Mixed Lineage Kinase 2), is a member of the mitogen-activated protein kinase kinase kinase (MAP3K) family, which plays a pivotal role in signaling pathways that regulate cell proliferation, differentiation, and apoptosis. This kinase acts as an upstream activator of the MAP kinase (MAPK) signaling cascade, responding to extracellular signals and translating them into cellular responses. MAP3K10's involvement is crucial for the development and maintenance of various physiological processes, and its activity is linked to neuronal function, immune responses, and stress responses. Dysregulation of MAP3K10 has been implicated in...



MAP3K10

SEC16B (SEC16 Homolog B): SEC16B is involved in the regulation of protein trafficking within cells, particularly in the endoplasmic reticulum (ER)-Golgi transport pathway. It plays a role in the secretion of proteins and has implications in cellular processes such as ER stress response and protein quality control....

SEC16B

SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is involved in cell adhesion and synaptic organization. It plays a role in the formation of neural circuits, particularly in the visual system, and is important for neural connectivity and communication....




SDK1

NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is involved in the maintenance of mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, which is crucial for proper mitochondrial function and energy production in cells....



NSMCE1

RSPO3 (R-Spondin 3): RSPO3 is part of the R-spondin family, which modulates the Wnt signaling pathway, crucial for embryonic development and cell growth. It has been implicated in various physiological processes, including vascular development and stem cell proliferation. Dysregulation of RSPO3 has been linked to diseases like cancer....

RSPO3

NSMAF (Neutral Sphingomyelinase Activation-Associated Factor): NSMAF is involved in the regulation of sphingomyelinase, an enzyme critical in sphingolipid metabolism. This gene plays a role in cell signaling pathways, particularly in response to external stress and in the induction of apoptosis. Its study is important for understanding various cellular processes and pathological conditions like inflammation and neurodegenerative diseases....



NSMAF

SDHAF3 (Succinate Dehydrogenase Complex Assembly Factor 3): SDHAF3 emerges as a critical player in the assembly of the succinate dehydrogenase complex, a key component of the electron transport chain in mitochondria. Within the energy factories of our cells, SDHAF3 ensures the proper functioning of this vital complex. Mutations in SDHAF3 can disrupt mitochondrial function and lead to mitochondrial disorders, underscoring its role in energy production and cellular health....

SDHAF3

TNFSF18 (TNF Superfamily Member 18): Also known as GITR ligand, TNFSF18 is involved in modulating immune responses. It binds to GITR on T cells and regulatory T cells, enhancing the effector T cell response while inhibiting the function of regulatory T cells. This dual role makes TNFSF18 an important target in cancer immunotherapy and in the treatment of autoimmune diseases....




TNFSF18

MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5): MAP2K5 is a kinase enzyme that is part of the mitogen-activated protein kinase (MAPK) signaling pathway. It plays a role in cellular responses to growth factors, stress, and cytokines. MAP2K5 is involved in various cellular processes, including cell growth, differentiation, and apoptosis. Dysregulation of MAP2K5 can contribute to cancer and other diseases....

MAP2K5

SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma): SCNN1G encodes the gamma subunit of the epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis in epithelial tissues such as the lung, kidney, and colon. This channel is pivotal for the reabsorption of sodium from the luminal fluid, a process essential for maintaining blood pressure, fluid volume, and electrolyte balance. The gamma subunit plays a key role in modulating the channel's activity and response to regulatory signals, including hormones like aldosterone. Mutations or dysregulation of SCNN1G can lead to conditions affecting fluid and electrolyte balance, such as Liddle's...

SCNN1G

SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A encodes the alpha subunit of the epithelial sodium channel (ENaC), a key regulator of sodium balance and fluid homeostasis in epithelial tissues such as the lungs, kidneys, and colon. This channel plays a critical role in the absorption of sodium from extracellular fluids, a process essential for maintaining blood pressure, fluid volume, and electrolyte balance. The SCNN1A subunit is fundamental for ENaC's proper assembly, localization, and function. Mutations in the SCNN1A gene can lead to altered channel activity, contributing to various diseases, including pseudohypoaldosteronism type 1 (PHA1), a disorder characterized by salt...




SCNN1A

ME1 (Malic Enzyme 1): ME1 is involved in metabolic processes, specifically in the conversion of malate to pyruvate in the citric acid cycle. It plays a role in energy metabolism and the production of NADPH, which is important for cellular processes such as lipid synthesis....



CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells, essential for their full activation and survival. It plays a pivotal role in the immune response, including the development of T cell memory. CD28 signaling is a target for immunotherapeutic drugs, particularly in cancer and autoimmune diseases....

CD28

OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 encodes a transcriptional repressor that is involved in the regulation of gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and barrier formation....



OVOL1

NUP93 (Nucleoporin 93): NUP93 is a component of the nuclear pore complex, which regulates the transport of molecules in and out of the cell nucleus. It is essential for maintaining the integrity of the nuclear envelope and controlling gene expression. Mutations in NUP93 have been associated with developmental disorders and cancer....



NUP93

TNR (Tenascin R): TNR is an extracellular matrix protein predominantly found in the central nervous system. It is involved in neural development, particularly in synaptic plasticity and neuronal differentiation. TNR plays a role in the formation of neural networks and has been studied in the context of neurodevelopmental and neurodegenerative disorders....




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, particularly in pain-sensing neurons (nociceptors). Mutations in SCN9A can lead to either gain-of-function or loss-of-function effects, resulting in conditions like erythromelalgia (extreme pain and redness in extremities) or congenital insensitivity to pain, respectively. This channel is a critical modulator of pain sensation, making it a target for the development of novel analgesics....




SCN9A

TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors, playing a key role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and apoptosis. It has distinct roles in embryonic development, stem cell maintenance, and tumorigenesis. Mutations in TP63 can lead to a range of developmental disorders and have been implicated in cancer. Studies aim to understand TP63's dual roles in normal cellular functions and disease states....

TP63

SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10): SCN10A encodes a member of the voltage-gated sodium channel family, which is essential for the initiation and propagation of action potentials in neurons and other excitable cells. This particular channel is predominantly expressed in peripheral sensory neurons and plays a critical role in pain sensation, making it a key player in nociception. Alterations in SCN10A function or expression have been linked to a variety of pain disorders, including neuropathic pain and inherited erythromelalgia, a condition characterized by episodes of burning pain and redness in the extremities. The channel's involvement in cardiac electrophysiology has...

SCN10A

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



NUDT2

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




TOX3

rs6553050: This genetic marker, known as a single nucleotide polymorphism (SNP), is located in the human genome and is used in genetic studies to identify variations that may be associated with specific traits or diseases. The presence or absence of such SNPs can be linked to genetic predispositions to certain health conditions or responses to medications. rs6553050 is one of the many SNPs that researchers investigate to understand the complex interactions between genetics and health....




rs6553050

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 crucial for the development of the immune system and the regulation of immune responses. Dysregulation of NFATC2 has been associated with autoimmune diseases and immunodeficiency....



NFATC2

TOP1 (DNA Topoisomerase I): TOP1 encodes the enzyme DNA topoisomerase I, which plays a crucial role in DNA replication and repair. This enzyme is responsible for relieving torsional stress in DNA strands by introducing transient breaks in the DNA double helix. TOP1 is essential for maintaining genomic stability and ensuring accurate DNA replication and transcription....




TOP1

SCIN (Scinderin): SCIN is an actin-severing protein involved in the regulation of actin cytoskeleton dynamics, playing a role in cellular processes such as cell motility, secretion, and membrane trafficking. By modulating actin filament organization, SCIN contributes to the cellular responses to extracellular signals and is involved in various physiological and pathological processes, including cell migration and invasion in cancer. Research on SCIN aims to elucidate its mechanisms of action and potential as a therapeutic target in diseases characterized by abnormal cell movement....

SCIN

SCGN (Secretagogin): SCGN is a calcium-binding protein predominantly expressed in neuroendocrine cells. It's involved in the regulation of hormone secretion and cellular signaling. SCGN has potential roles in neuroprotective mechanisms and has been studied in relation to neurological disorders like Alzheimer's disease....

SCGN

NELL1 (NEL Like 1): NELL1 is a protein involved in bone and cartilage growth and regeneration. It's significant in skeletal development and has been implicated in osteochondral diseases and in promoting bone healing. The study of NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries....



NELL1

MANBA (Mannosidase Beta): MANBA encodes a lysosomal enzyme that is involved in the degradation of N-linked glycoproteins. It catalyzes the hydrolysis of the beta-linked mannose residues in glycoproteins, playing a crucial role in the glycoprotein degradation pathway. Deficiencies in MANBA activity can lead to lysosomal storage disorders, characterized by the accumulation of undegraded glycoproteins, affecting cellular function and leading to clinical manifestations....

MANBA

ZNF516 (Zinc Finger Protein 516): ZNF516 is involved in transcriptional regulation, acting as a transcriptional repressor or activator in various gene expression pathways that govern cell differentiation, proliferation, and apoptosis. Its role is critical in cardiac development and function, with dysregulation linked to cardiovascular diseases. ZNF516 has also been implicated in the suppression of tumor growth, highlighting its potential as a target in cancer therapy and its importance in maintaining cellular homeostasis....

ZNF516

AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a central role in the conversion of S-adenosylhomocysteine to homocysteine, a critical step in the body's methylation processes and detoxification....



AHCY

SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in the regulation of vesicle docking and fusion, which is essential for proper cellular function and communication....




SCFD1

NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule prominently expressed in the central nervous system, playing a pivotal role in neuronal growth, differentiation, and synaptic plasticity. It is involved in the formation and maintenance of neuronal networks, contributing to cognitive functions such as learning and memory. NEGR1 functions as a mediator of cell-cell interactions, facilitating communication between neurons and supporting neural tissue structure. Its expression patterns and functional implications in neurodevelopment suggest a critical role in brain development and the pathophysiology of neurological disorders. Dysregulation or mutations in NEGR1 have been associated with neurodevelopmental disorders, obesity, and...

NEGR1

MTRR (Methionine Synthase Reductase): MTRR is crucial for regenerating methylcobalamin, ensuring the continuous function of MTR in homocysteine metabolism. It plays a key role in maintaining adequate methionine levels and supports normal DNA synthesis. MTRR mutations are associated with homocystinuria, which can lead to developmental and neurological issues. Insights into MTRR function offer potential for genetic disorder therapies....



MTRR

rs2129588: Similarly, rs2129588 is another SNP. These genetic variations are the most common type of genetic difference among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, an SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. rs2129588, like other SNPs, can serve as biological markers, helping scientists locate genes that are associated with disease. They are key in the field of genomics for studies on gene-disease associations, pharmacogenomics, and population genetics....

rs2129588

MGMT (O-6-Methylguanine-DNA Methyltransferase): MGMT is a DNA repair enzyme that removes alkyl groups from the O6 position of guanine, preventing mutations and maintaining genomic stability. It plays a crucial role in protecting cells from mutagenic or carcinogenic effects of alkylating agents. MGMT's activity is a key factor in resistance to certain chemotherapy drugs, making it a focus of cancer treatment research, particularly in gliomas, where its expression can influence therapy outcomes....



MGMT

SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a core component of the SWI/SNF chromatin remodeling complex, playing a pivotal role in regulating gene expression by altering chromatin structure. Mutations in SMARCA2 are associated with disorders like Nicolaides-Baraitser syndrome, characterized by intellectual disability and sparse hair. Its function is critical for proper gene regulation and development....



SMARCA2

SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is crucial for the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It's involved in lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can influence cholesterol levels and have been associated with the risk of cardiovascular diseases....




SCARB1

NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase): NEDD4L is crucial in regulating ion transport and cellular signaling pathways. It's known for its role in hypertension and cardiovascular diseases, as it affects sodium and water balance in the body. This gene's function in homeostasis makes it a key player in understanding various health conditions....




NEDD4L

SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is part of the SCAMP family, involved in membrane trafficking processes. It plays a role in the regulation of membrane recycling and exocytosis, particularly in neurons. SCAMP5's function is important for neurotransmitter release and neuronal communication, and it may have implications in neurological disorders....




SCAMP5

FANCA (Fanconi anemia group A protein): FANCA is a critical component of the Fanconi anemia (FA) pathway, a DNA repair mechanism essential for maintaining genomic stability and preventing chromosomal instability. This protein is involved in the activation of the FA core complex, which functions in the recognition and repair of DNA interstrand crosslinks (ICLs). ICLs are highly toxic DNA lesions that can block DNA replication and transcription, leading to genome instability and cell death if left unrepaired. FANCA plays a pivotal role in coordinating the assembly of the FA core complex and its recruitment to sites of DNA damage, where...



FANCA

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): Also known as TRAIL, TNFSF10 is involved in inducing apoptosis in tumor cells. It plays a role in immune surveillance and cancer therapy, as it can selectively induce cell death in cancer cells while sparing normal cells. This gene is a focus in cancer research for its potential therapeutic applications....

TNFSF10

TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): Also known as TACI, TNFRSF13B is a receptor for cytokines BAFF and APRIL, which are crucial for B cell development and function. Mutations in TNFRSF13B have been associated with common variable immunodeficiency (CVID) and selective IgA deficiency, underscoring its importance in humoral immunity. Research on TNFRSF13B aims to understand its role in immune dysregulation and autoimmune diseases....




TNFRSF13B

PLTP (Phospholipid Transfer Protein): PLTP, also known as phospholipid transfer protein, is a key player in lipid metabolism and lipid transport processes within the body. It facilitates the transfer of phospholipids, such as phosphatidylcholine and phosphatidylethanolamine, between different lipoprotein particles, thereby regulating their composition and metabolism. PLTP plays a crucial role in the maintenance of plasma lipoprotein homeostasis, influencing the size, composition, and functionality of various lipoprotein fractions, including high-density lipoproteins (HDL) and low-density lipoproteins (LDL). Its activity is essential for processes like reverse cholesterol transport, which removes excess cholesterol from peripheral tissues and delivers it to the liver for...



PLTP

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control in the endoplasmic reticulum, and its dysfunction can affect protein folding and cellular homeostasis....

MAN1A2

NEBL (Nebulette): NEBL is a cardiac-specific actin-binding protein, crucial for the structural integrity and function of cardiac muscle cells. It plays a significant role in the organization of the actin cytoskeleton, affecting heart muscle contraction and cardiac performance. Mutations in NEBL are associated with cardiomyopathies, indicating its critical role in maintaining cardiac muscle structure and function....

NEBL

SOAT2 (Sterol O-Acyltransferase 2): SOAT2, a member of the sterol O-acyltransferase family, is a crucial enzyme involved in lipid metabolism, particularly in the esterification of cholesterol. This enzyme plays a significant role in the regulation of cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are stored in lipid droplets or incorporated into lipoproteins for transportation. SOAT2 is primarily expressed in tissues involved in lipid metabolism, such as the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cellular cholesterol levels, serving as a key mechanism to prevent cholesterol toxicity and maintain lipid homeostasis. Dysregulation...



SOAT2

SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a crucial role in cellular communication and the transport of substances within cells, which is vital for various cellular functions....




SCAMP1

ABO (ABO Blood Group System): The ABO gene is responsible for determining the ABO blood group of an individual. It encodes enzymes that modify the structure of glycoproteins and glycolipids on the surface of red blood cells, resulting in different blood types (A, B, AB, and O). Variations in this gene are not only crucial for blood transfusion compatibility but also have been associated with various diseases, including cardiovascular diseases and certain types of cancer....

SBF2 (SET Binding Factor 2): SBF2 is involved in nerve development and has been linked to Charcot-Marie-Tooth disease, a hereditary neurological disorder that affects peripheral nerves. It plays a role in maintaining the structure and function of peripheral nerves, and mutations in SBF2 lead to nerve degeneration and associated muscle weakness and sensory loss....




SBF2

SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5, also known as OCTN2, is a crucial carnitine transporter, responsible for the cellular uptake of carnitine, a necessary compound for the transport of fatty acids into mitochondria for oxidation. This process is vital for energy production in various tissues, especially the heart and muscles. Mutations in the SLC22A5 gene can lead to primary carnitine deficiency, a condition characterized by muscle weakness and cardiomyopathy, underscoring its essential role in metabolic health and energy homeostasis....



SLC22A5

TNF (Tumor Necrosis Factor): TNF is a cytokine involved in the immune response and inflammation. It plays a role in regulating the immune system's response to infection and tissue damage. Dysregulation of TNF is implicated in autoimmune diseases and chronic inflammatory conditions....

FAM240C (Family With Sequence Similarity 240 Member C): FAM240C is a less characterized gene, with its function still being elucidated. Like other family members, it may play a role in cellular processes such as cell division or signal transduction....

FAM240C

RREB1 (Ras Responsive Element Binding Protein 1): RREB1 encodes a transcription factor that binds to the Ras-responsive element (RRE) and is involved in the regulation of gene expression in response to Ras signaling. It plays a role in cell growth and proliferation. ...

RREB1

SATB1 (SATB Homeobox 1): SATB1 is a DNA-binding protein that regulates chromatin architecture and gene expression, particularly in T lymphocytes. It organizes the nuclear architecture by anchoring chromatin loops and regulates the expression of a large number of genes involved in T cell development and function. Altered SATB1 expression is associated with various cancers and is involved in the regulation of immune responses....

SATB1

MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5, part of the MAP kinase signaling cascade, is involved in transmitting signals from the cell surface to the nucleus, affecting various cellular responses such as inflammation and immune reactions. It plays a role in stress responses and has been implicated in immune system regulation and potentially in autoimmune diseases....



MAP4K5

SARDH (Sarcosine Dehydrogenase): SARDH is involved in the metabolism of sarcosine, an intermediate in the metabolism of choline to glycine. It plays a role in one-carbon metabolism, which is important for various biological processes, including DNA methylation. Dysfunctions in SARDH can affect metabolic pathways and have been studied in the context of certain metabolic disorders....




SARDH

MAML3 (Mastermind-Like Transcriptional Coactivator 3): MAML3 is a gene involved in transcriptional coactivation. It interacts with various transcription factors and coactivates their function, influencing gene expression patterns. MAML3's role in transcriptional regulation suggests its involvement in developmental processes and cell differentiation....



MAML3

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene involved in mitochondrial biology and is an essential component of the mitochondrial protein import and assembly machinery. This gene is crucial for ensuring the proper localization and function of proteins within the mitochondria. Mitochondria are the energy-producing organelles in cells, and SAMM50's role is essential for overall cellular energy metabolism and function....




SAMM50

S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for sphingosine-1-phosphate (S1P), a lipid signaling molecule that influences immune cell migration, angiogenesis, and endothelial barrier integrity. S1PR4 is predominantly expressed in hematopoietic cells and plays a role in regulating immune responses and inflammation. Alterations in S1PR4 signaling can contribute to immune disorders and inflammatory diseases, emphasizing its role in immune regulation and inflammation....

S1PR4

RRAS2 (RAS Related 2): RRAS2 belongs to the RAS family of genes, involved in cell growth and differentiation. It plays a role in signal transduction pathways and is implicated in various cellular processes, including cell adhesion and migration....

RRAS2

RWDD3 (RWD Domain Containing 3): RWDD3 is a protein with a poorly characterized function. Its specific role in cellular processes and its relevance to human health and disease are still areas of ongoing research....

RWDD3

MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that is involved in early embryonic development and organogenesis. It plays a role in limb development and hematopoiesis. MEIS1 has been associated with restless legs syndrome (RLS) and has implications in neurological and developmental disorders....



MEIS1

VEGFC, or Vascular Endothelial Growth Factor C, is a crucial protein involved in the regulation of lymphangiogenesis, the formation of lymphatic vessels, and angiogenesis, the formation of blood vessels. As a member of the vascular endothelial growth factor (VEGF) family, VEGFC plays diverse roles in physiological and pathological processes, including embryonic development, tissue repair, and tumor progression. One of the primary functions of VEGFC is its ability to stimulate the growth and proliferation of lymphatic endothelial cells, promoting the formation and remodeling of lymphatic vessels. VEGFC binds to and activates its receptors, primarily VEGFR-3 (vascular endothelial growth factor receptor 3), initiating...



VEGFC

MAGI3 (Membrane Associated Guanylate Kinase, WW, and PDZ Domain Containing 3): MAGI3 is a scaffolding protein involved in the assembly of multiprotein complexes at cell junctions and in signal transduction pathways. It's implicated in cellular processes like epithelial cell polarity and may play a role in cancer development, particularly in the context of cell-cell adhesion and signaling....

MAGI3

MITF (Melanocyte Inducing Transcription Factor): MITF is crucial for the development and function of melanocytes, cells responsible for pigment production. Mutations in MITF can lead to pigmentary disorders and increase the risk of melanoma, a type of skin cancer. MITF also plays a role in the development of certain types of retinal cells and has been implicated in Waardenburg syndrome....



MITF

NRXN1 (Neurexin 1): NRXN1 is a neuronal cell adhesion molecule involved in synapse formation and function. It plays a significant role in neural communication and has been linked to a variety of neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability....



NRXN1

RTN4 (Reticulon 4): RTN4, also known as Nogo, is a protein known for its role in inhibiting nerve fiber growth and regeneration in the central nervous system. It's significant in the context of spinal cord injury and neurodegenerative diseases, as it impedes the ability of axons to regrow after injury. RTN4 has been a target in research seeking to promote neural regeneration and repair....

RTN4

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 frequently downregulated in various cancers, suggesting a protective role against tumor development and progression....



OPCML

EDA2R, also known as Ectodysplasin A2 receptor, is a protein encoded by the EDA2R gene. It belongs to the tumor necrosis factor receptor (TNFR) superfamily and serves as a receptor for ectodysplasin A2 (EDA-A2), a signaling molecule involved in the development of ectodermal tissues such as hair, teeth, and sweat glands. One of the primary functions of EDA2R is its role in mediating the effects of EDA-A2 signaling during embryonic development. EDA-A2, also known as ectodysplasin A2 or EDA2, is a ligand that binds to EDA2R, initiating signaling cascades that regulate the formation and patterning of ectodermal structures. This signaling pathway...



EDA2R

MKNK2 (MAP Kinase Interacting Serine/Threonine Kinase 2): MKNK2 encodes a kinase that interacts with MAP kinases and plays a role in the regulation of protein synthesis. It is involved in various cellular processes, including stress responses and inflammation. Dysregulation of MKNK2 has been linked to cancer and other diseases involving aberrant signaling pathways....



MKNK2

RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein involved in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and plays a crucial role in translation. Mutations in ribosomal proteins like RPS20 can lead to ribosomopathies, a group of disorders characterized by defective ribosome function and developmental abnormalities....




RPS20

`TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its precise functions and roles in cellular processes are not fully characterized, transmembrane proteins are often involved in cell signaling, transport of molecules across cell membranes, and cellular communication. Further research is needed to uncover the specific functions of TMEM171 in cellular biology....`

TMEM171

RTL1 (Retrotransposon Like 1): RTL1 is a gene thought to be derived from a retrotransposon and is involved in placental development. It has imprinted expression, meaning it is expressed from only one parental allele. Dysregulation of RTL1 can have implications in diseases related to genomic imprinting, such as Beckwith-Wiedemann syndrome....




RTL1

SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein that contains a SERTA domain, which is associated with cell cycle regulation. Beyond its role in cell cycle progression, SERTAD2 is involved in intricate cellular processes such as DNA replication, DNA repair, and chromatin remodeling. Its ability to interact with various transcription factors and co-regulators makes it a pivotal player in orchestrating gene expression. ...

SERTAD2

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator implicated in hematopoiesis and the development of certain cancers, particularly myeloid leukemia. It encodes EVI1, a protein involved in gene regulation, cell proliferation, and differentiation....



MECOM

RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with various signaling molecules, including Ras. It is involved in regulating cell adhesion and motility. RSU1 plays a role in cell signaling pathways and may have implications in cancer progression and metastasis....

RSU1

SERPINE2 (Serpin Family E Member 2): SERPINE2, also known as protease nexin-1, is a serine protease inhibitor with broad specificity, playing a significant role in regulating proteolytic pathways involved in tissue remodeling, fibrinolysis, and neuronal growth. It inhibits thrombin and urokinase-type plasminogen activator, crucial for blood clotting and tissue repair processes. Dysregulation of SERPINE2 has been associated with various cardiovascular and neurological disorders, highlighting its role in maintaining tissue integrity and function....




SERPINE2

RPA2 (Replication Protein A2): RPA2, a subunit of the Replication Protein A (RPA) complex, serves as a crucial player in DNA replication, repair, and recombination processes within the cell. As part of the RPA complex, RPA2 functions in the stabilization and protection of single-stranded DNA (ssDNA) intermediates, facilitating the progression of DNA replication forks and safeguarding genomic integrity. By binding to exposed ssDNA regions, RPA2 prevents their degradation and promotes the recruitment of other DNA repair proteins, thereby orchestrating efficient DNA damage response pathways. Moreover, RPA2 participates in various cellular processes beyond DNA replication, including telomere maintenance, DNA damage checkpoint...

RPA2

SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood....

SERPINB10

MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is involved in the MAPK signaling pathway, which regulates various cellular processes, including proliferation, differentiation, and response to stress. Mutations in this gene can lead to developmental disorders and are implicated in various cancers....

MAP3K1

SERPINA7, also known as Thyroxine-binding globulin (TBG), is a crucial carrier protein primarily synthesized in the liver and circulates in the bloodstream. Its primary function is to bind to and transport thyroid hormones, particularly thyroxine (T4) and triiodothyronine (T3), throughout the body. This glycoprotein plays a pivotal role in regulating the availability and distribution of thyroid hormones, which are essential for various physiological processes, including metabolism, growth, and development. By tightly binding to thyroid hormones, SERPINA7 helps to maintain their concentration within the bloodstream, ensuring efficient delivery to target tissues and organs. Moreover, alterations in SERPINA7 levels or mutations in its encoding...




SERPINA7

SERPINA1 (Serpin Family A Member 1): SERPINA1, also known as alpha-1-antitrypsin, is a major protease inhibitor, primarily produced in the liver, and plays a vital role in protecting the lungs from neutrophil elastase. Deficiency in SERPINA1 can lead to alpha-1 antitrypsin deficiency, a genetic disorder that causes lung diseases like emphysema and chronic obstructive pulmonary disease (COPD), as well as liver diseases. It is crucial in maintaining the balance of proteolytic activity in lung tissues....

SERPINA1

NRSN1 (Neurensin 1): NRSN1 is a neuronal protein that may be involved in synaptic function and plasticity. While its exact role in the brain is not fully characterized, it is thought to contribute to the regulation of neurotransmitter release and neuronal signaling, with implications for learning and memory....



NRSN1

NRP2 (Neuropilin 2): NRP2 is a receptor involved in angiogenesis and lymphangiogenesis, as well as in neuronal guidance. It binds to vascular endothelial growth factors and semaphorins, influencing blood vessel and nerve development. NRP2 has implications in cancer progression, particularly in tumor angiogenesis and metastasis, and in developmental processes....



NRP2

MDM1 (MDM1 Nuclear Protein Homolog): MDM1 is a nuclear protein with a speculated role in the regulation of chromosomal integrity during cell division. It may be involved in DNA repair mechanisms or in the response to DNA damage. The precise cellular functions of MDM1 remain a subject of ongoing research, particularly in the context of cell cycle regulation. ...



MDM1

NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It functions as a coactivator for various nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 plays a role in regulating gene expression in response to hormonal signals and is associated with processes such as metabolism and cell growth....



NRIP1

LDLRAD3 (Low Density Lipoprotein Receptor Class A Domain Containing 3): This gene encodes a protein that is believed to be involved in lipid metabolism and transport. It shares similarities with low-density lipoprotein receptors, suggesting a role in cholesterol homeostasis. Its exact function, however, remains less understood....

LDLRAD3

RRAGC (Ras Related GTP Binding C): RRAGC is a member of the small GTPase family and plays a role in amino acid sensing and mTOR signaling. This gene is important for cellular growth, proliferation, and metabolic regulation. Dysregulation of RRAGC can impact cellular energy balance and has been linked to metabolic disorders....




RRAGC

TFPI2 (Tissue Factor Pathway Inhibitor 2): TFPI2, a critical component of the coagulation cascade, acts as a potent inhibitor of the tissue factor (TF)-mediated blood coagulation pathway. It plays a significant role in maintaining hemostatic balance by preventing excessive thrombosis and modulating fibrinolysis. Located in the extracellular matrix (ECM), TFPI2 is involved in various physiological processes beyond coagulation, including cell migration, proliferation, and angiogenesis, contributing to tissue repair and remodeling. The aberrant expression of TFPI2 has been associated with numerous pathological conditions, including cancer, where it may act as a tumor suppressor gene. Its downregulation in certain cancers has been...



TFPI2

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is involved in the regulation of metalloproteinases, which are enzymes that degrade extracellular matrix components. It plays a role in tissue remodeling and is important in processes like wound healing and angiogenesis....



TIMP4

NR1H3: NR1H3 encodes the liver X receptor alpha, a nuclear receptor that regulates the expression of genes involved in cholesterol and lipid metabolism. It plays a critical role in maintaining cholesterol homeostasis and has been implicated in the development of atherosclerosis and other metabolic disorders....



NR1H3

NPC1 (Niemann-Pick Disease, Type C1): NPC1 is crucial for cholesterol trafficking within cells. Mutations in this gene cause Niemann-Pick disease type C, a rare genetic disorder characterized by the accumulation of cholesterol and other lipids in cells, leading to neurodegeneration and liver dysfunction....



NPC1

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 encodes the glucocorticoid receptor, which mediates the effects of glucocorticoids, a class of steroid hormones. This receptor is involved in diverse processes including stress response, immune function, and metabolism. Dysregulation of NR3C1 is associated with various stress-related disorders, inflammatory conditions, and metabolic diseases. It plays a crucial role in the body's response to stress and inflammation, making it a significant target in the treatment of a range of conditions from autoimmune diseases to psychiatric disorders....



NR3C1

NR4A2 (Nuclear Receptor Subfamily 4 Group A Member 2): NR4A2, also known as Nurr1, is a transcription factor essential for the development and maintenance of dopaminergic neurons in the brain. It's involved in neuroprotection and has been studied in relation to Parkinson's disease and other neurodegenerative disorders....



NR4A2

NRG1 (Neuregulin 1): NRG1 is a signaling protein that is involved in neural development and synaptic plasticity. It plays a crucial role in the development of the nervous system and has been implicated in various neurological and psychiatric disorders, including schizophrenia....



NRG1

NRBF2, also known as Nuclear Receptor Binding Factor 2, is a protein involved in autophagy, a cellular process responsible for degrading and recycling damaged or unnecessary cellular components. NRBF2 plays a crucial role in the regulation of autophagy by facilitating the formation of autophagosomes, double-membraned vesicles that engulf and sequester cellular cargo for degradation. One of the primary functions of NRBF2 is its interaction with the autophagy-initiating kinase complex, ULK1 (Unc-51 Like Autophagy Activating Kinase 1) complex. NRBF2 binds to the ULK1 complex, which consists of ULK1, ATG13, FIP200, and ATG101, and promotes its stability and activity. This interaction is essential...



GLO1

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