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ABO (ABO Blood Group System):ABO is a gene that determines an individual’s ABO blood group. It encodes enzymes that modify glycoproteins and glycolipids on the surface of red blood cells, resulting in the different blood types (A, B, AB, and O). Variations in this gene are important for blood transfusion compatibility and have also been linked to risks for cardiovascular diseases and certain cancers.

CCDC158 (Coiled-Coil Domain Containing 158): CCDC158 is a gene that encodes a protein characterized by coiled-coil domains. Proteins with these domains often play important roles in protein-protein interactions and are involved in cellular structural organization or signaling pathways.

CCDC158

NLRC5 (NOD-Like Receptor C5): NLRC5 is a member of the NOD-like receptor family that plays a key role in the immune system. It is involved in regulating MHC class I genes, which are essential for the immune system’s ability to detect and respond to pathogens. Dysfunctions in NLRC5 can lead to immune system imbalances and have been linked to several autoimmune disorders.

NLRC5

RGS13 (Regulator of G Protein Signaling 13): RGS13 is a protein involved in regulating G protein-coupled receptor (GPCR) signaling. It plays a key role in modulating the signal transduction of specific hormones and neurotransmitters. RGS13 is especially important in immune cells such as mast cells and B cells, where it contributes to allergy and immune response regulation.

RGS13

HLA-B (Human Leukocyte Antigen B): HLA-B is a gene that encodes a major histocompatibility complex (MHC) class I protein. These proteins are essential for presenting antigens to immune cells and play a central role in the adaptive immune response. The diversity of HLA-B contributes to an individual’s immune system ability to recognize and respond to various pathogens.

HLA-B

PLCB1 (Phospholipase C Beta 1): PLCB1 is a gene that encodes an enzyme involved in signal transduction pathways. This enzyme catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to generate inositol trisphosphate (IP3) and diacylglycerol (DAG), both important second messengers. PLCB1 plays a role in various cellular processes, including cell proliferation, differentiation, and neurotransmitter release.

PLCB1

TJP1 (Tight Junction Protein 1): TJP1 is a gene that encodes a protein essential for the formation and maintenance of tight junctions in epithelial and endothelial cells. It plays a key role in cell polarity and barrier function, which are important for tissue integrity. Changes in TJP1 have been linked to diseases such as cancers and disorders involving barrier dysfunction.

TJP1

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a gene that encodes a component of the NADPH oxidase complex, which plays a key role in immune defense against pathogens. It helps generate reactive oxygen species in phagocytes, essential for killing microbes. Mutations in NCF4 have been linked to chronic granulomatous disease, a condition marked by recurrent bacterial and fungal infections.

NCF4

SGCD (Sarcoglycan Delta): SGCD is a protein that is part of the dystrophin-glycoprotein complex, essential for maintaining muscle integrity and function. Mutations in SGCD are linked to limb-girdle muscular dystrophy, a group of genetic disorders characterized by progressive weakening and wasting of the muscles around the hips and shoulders.

SGCD

PRDM6 (PR Domain Containing 6): PRDM6 is a member of the PRDM family of transcriptional regulators, known for its role in epigenetic modifications and gene expression regulation. It primarily acts as a transcriptional repressor, influencing cardiovascular development and other systems by modulating genes involved in cell differentiation, proliferation, and apoptosis. PRDM6 is especially important in vascular development and smooth muscle cell differentiation, where its precise regulation supports normal blood vessel formation and cardiovascular balance. Dysregulation of PRDM6 has been linked to various conditions, including hypertension and vascular remodeling.

PRDM6

TGFBR2 (Transforming Growth Factor Beta Receptor 2): TGFBR2 is a gene that encodes a key component of the TGF-beta signaling pathway, which regulates cell growth, differentiation, and immune responses. Mutations in TGFBR2 are linked to hereditary conditions like hereditary hemorrhagic telangiectasia (HHT) and may contribute to the development of certain cancers.

TGFBR2

POU3F3 (POU Class 3 Homeobox 3): POU3F3 is a member of the POU family of transcription factors, involved in regulating gene expression during nervous system development. It plays a key role in the differentiation and maintenance of neural progenitor cells, influencing the formation of various brain regions. Mutations or dysregulation of POU3F3 have been linked to neurodevelopmental disorders and may contribute to certain psychiatric conditions.

POU3F3

PCCB (Propionyl-CoA Carboxylase Beta Chain): PCCB is an enzyme involved in the metabolism of specific amino acids, fatty acids, and cholesterol. Mutations in PCCB can cause propionic acidemia, a rare metabolic disorder marked by the buildup of toxic substances, which can lead to neurological and systemic symptoms.

PCCB

GPR151 (G Protein-Coupled Receptor 151): GPR151 is a gene that encodes a G protein-coupled receptor (GPCR). GPCRs are involved in cell signaling and respond to various signaling molecules. Although the specific function of GPR151 is still being investigated, it may play a role in neural and metabolic processes.

GPR151

NADSYN1 (NAD Synthetase 1): NADSYN1 is a gene involved in the synthesis of NAD (nicotinamide adenine dinucleotide), a crucial coenzyme in redox reactions. NADSYN1 plays an essential role in various metabolic processes, and its function is increasingly recognized in relation to aging, cell death, and certain chronic diseases.

NADSYN1

PTPRD (Protein Tyrosine Phosphatase Receptor Type D): PTPRD is a protein that functions as a tyrosine phosphatase receptor involved in cell signaling and regulation. It modulates cellular processes by removing phosphate groups from specific protein substrates. PTPRD has been studied for its role in cancer, where it may act as a tumor suppressor.

PTPRD

BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor involved in regulating circadian rhythms and sleep. Variations in this gene are linked to the natural short sleep phenotype, where individuals function well with less sleep than average. Studying BHLHE41 may offer insights into sleep disorders and circadian rhythm regulation.

BHLHE41

GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor involved in regulating gene expression across various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been associated with disorders such as congenital hypothyroidism and neonatal diabetes, highlighting its key role in endocrine function and development.

GLIS3

SIM1 (Single-Minded Homolog 1): SIM1 is a transcription factor that plays a key role in the development of specific brain regions, including the hypothalamus. It is involved in regulating appetite and maintaining energy balance. Mutations in SIM1 have been linked to obesity and various metabolic disorders.

SIM1

TTN (Titin): TTN is one of the largest proteins in the human body, primarily found in muscle tissues. It plays a key role in muscle contraction and elasticity. TTN functions like a molecular spring, providing structural support to muscle fibers and enabling them to contract and relax efficiently. Mutations in the TTN gene have been linked to several muscle-related disorders, including muscular dystrophy and cardiomyopathy.

KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3): KCND3 encodes a voltage-gated potassium channel protein mainly found in the heart and brain. It helps regulate the electrical activity of cardiac and neuronal cells, and mutations in KCND3 have been linked to certain heart rhythm abnormalities and neurodevelopmental disorders.

KCND3

COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is a key part of the COG complex, which is essential for normal Golgi function and vesicular trafficking. It plays a vital role in maintaining Golgi structure and ensuring proper glycosylation of proteins, a critical post-translational modification. Mutations in COG6 can cause congenital disorders of glycosylation, leading to a variety of clinical symptoms such as developmental delay and neurological problems.

COG6

PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 is a gene that encodes a regulatory subunit of phosphoinositide 3-kinase (PI3K), a key component in signaling pathways that regulate cell growth, proliferation, and survival. Mutations in PIK3R1 are linked to various cancers and serve as targets for cancer therapies. Additionally, it plays a role in insulin signaling and is associated with diabetes and metabolic syndromes.

PIK3R1

MTRES1 (Mitochondrial tRNA Editing Site 1): MTRES1 is a gene involved in mitochondrial tRNA (transfer RNA) editing. tRNAs are essential molecules for protein synthesis within mitochondria. MTRES1 likely plays a key role in ensuring the accuracy of mitochondrial protein translation by editing tRNAs.

MTRES1

COL13A1 (Collagen Type XIII Alpha 1 Chain): COL13A1 encodes a transmembrane collagen involved in the structure and function of connective tissues. It supports cell adhesion, maintains muscle integrity, and stabilizes the neuromuscular junction. Changes in COL13A1 activity are linked to muscle disorders and are being investigated in relation to connective tissue diseases and cancer spread.

COL13A1

PFKFB3, or 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, is an enzyme that plays a key role in cellular energy metabolism, specifically in glycolysis. It regulates the levels of fructose-2,6-bisphosphate (F2,6BP), a powerful allosteric activator of 6-phosphofructo-1-kinase (PFK-1), which is a critical enzyme in glycolysis. By controlling F2,6BP levels, PFKFB3 promotes PFK-1 activity, enhancing the conversion of fructose-6-phosphate (F6P) to fructose-1,6-bisphosphate (F1,6BP) and boosting the flow of glucose through the glycolytic pathway.

PFKFB3

SEM1 (Semaphorin 1): SEM1, also known as 26S proteasome complex subunit DSS1, is a protein involved in DNA repair and regulation of protein degradation through the proteasome. It helps maintain cellular protein balance and genomic integrity. Dysfunction of SEM1 may contribute to cancer and other diseases linked to proteasome malfunction.

SEM1

ST18 (Suppression of Tumorigenicity 18): ST18 is a gene linked to tumor suppression and the regulation of inflammation. It may help control cell growth and modulate immune responses, contributing to the prevention of tumor development.

ST18

HMCN1 (Hemicentin 1): HMCN1 is a large extracellular matrix protein that plays an important role in cell adhesion and maintaining tissue integrity. It is especially significant in the eye, contributing to the structure of the retina and vitreous body. Mutations in HMCN1 have been linked to age-related macular degeneration and other ocular disorders.

HMCN1

TBX20 (T-Box 20): TBX20 is a gene that encodes a transcription factor essential for heart development and function. It plays a key role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are linked to congenital heart defects and cardiomyopathies.

TBX20

CNR2 (Cannabinoid Receptor 2): CNR2 is a G protein-coupled receptor that binds cannabinoids and is mainly expressed in the immune system. It plays a key role in regulating immune responses, inflammation, and pain. Activation of CNR2 can produce anti-inflammatory and immunosuppressive effects, making it an important target for treating inflammatory diseases, pain, and conditions requiring immune modulation. Understanding CNR2’s function offers promising therapeutic potential for autoimmune disorders, chronic pain, and other related diseases.

CNR2

TENM3 (Teneurin-3): TENM3 is a gene that encodes a transmembrane protein from the teneurin family, which acts as a multifunctional regulator in neural development and synaptic connectivity. This protein guides axonal pathfinding, dendritic growth, and synaptic organization, playing a key role in forming and refining neural circuits. Beyond development, TENM3 also supports synaptic maintenance and plasticity in the adult nervous system, affecting processes like synaptic pruning and neurotransmitter release. Dysregulation of TENM3 has been linked to neurological disorders such as autism spectrum disorders and schizophrenia, highlighting its critical role in brain function.

TENM3

FAM240C (Family With Sequence Similarity 240 Member C): FAM240C is a gene that is less well characterized, with its function still being investigated. Similar to other family members, it may be involved in cellular processes such as cell division and signal transduction.

FAM240C

TMEM106B (Transmembrane Protein 106B): TMEM106B is a gene that encodes a protein involved in lysosomal function and neuronal health. Variants in TMEM106B have been linked to neurodegenerative diseases, including frontotemporal lobar degeneration. Its role in maintaining neuronal function and lysosomal homeostasis makes it important for studying mechanisms behind neurodegeneration.

TMEM106B

TOP1 (DNA Topoisomerase I): TOP1 is a gene that encodes the enzyme DNA topoisomerase I, which plays a key role in DNA replication and repair. This enzyme helps relieve torsional stress in DNA by creating temporary breaks in the double helix. TOP1 is essential for maintaining genomic stability and ensuring accurate DNA replication and transcription.

TOP1

CRHR2 (Corticotropin-Releasing Hormone Receptor 2): CRHR2 is a protein that binds corticotropin-releasing hormone, helping regulate the body’s response to stress. It is involved in stress signaling, metabolic regulation, and cardiovascular function, and has been studied for its links to anxiety and heart-related conditions.

CRHR2

FAAH (Fatty Acid Amide Hydrolase): FAAH is an enzyme that breaks down endocannabinoids, which play important roles in pain sensation, mood regulation, and appetite. By modulating endocannabinoid signaling, FAAH is a target of interest for developing therapies aimed at pain relief, anxiety, and certain neurological disorders.

FAAH

ASTN2 (Astrotactin 2): ASTN2 is a gene that encodes a neural adhesion protein involved in neuronal migration during brain development. It plays a key role in the formation of neural networks and overall brain structure. Genetic variations in ASTN2 have been associated with neurological disorders such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).

ASTN2

COL5A1 (Collagen Type V Alpha 1 Chain): COL5A1 is a gene that encodes a component of type V collagen, a protein essential for the structure and integrity of connective tissues. Variants in COL5A1 are linked to Ehlers-Danlos syndrome, a condition marked by joint hypermobility, skin hyperextensibility, and increased tissue fragility.

COL5A1

PEMT (Phosphatidylethanolamine N-Methyltransferase): PEMT is an enzyme that converts phosphatidylethanolamine to phosphatidylcholine in the liver, a key step for maintaining cell membrane structure and enabling VLDL secretion. Its activity affects liver function, fat metabolism, and choline needs, with dysregulation linked to liver and cardiovascular disease risk.

PEMT

TAMM41 (TAM41 Mitochondrial Translocator Assembly and Maintenance Protein): TAMM41 is a mitochondrial protein involved in phospholipid biosynthesis. It supports the maintenance of mitochondrial membranes and the proper function of the electron transport chain, which is essential for cellular energy production. TAMM41 is studied for its role in mitochondrial physiology and its potential links to metabolic and mitochondrial disorders.

TAMM41

NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2): NR5A2, also known as LRH-1, is a nuclear receptor that regulates key processes such as cholesterol balance, bile acid production, and steroid hormone synthesis. It also plays an important role in pancreatic development and function. Altered NR5A2 activity has been linked to metabolic disorders and several cancers, especially those affecting the gastrointestinal tract.


NR5A2

KL (Klotho): KL encodes a protein linked to aging and longevity. Klotho helps regulate calcium and phosphate metabolism and is believed to suppress aging-related processes. It is of significant interest in aging research for its potential to extend lifespan and improve age-related health.

FCGR3A (Fc Fragment Of IgG Receptor IIIa): FCGR3A, also known as CD16a, is a receptor that binds to the Fc region of immunoglobulin G (IgG). It is expressed on natural killer cells, macrophages, and some T cells, where it mediates antibody-dependent cellular cytotoxicity (ADCC) and aids in clearing pathogens and antibody-coated cells. Variations in FCGR3A can influence autoimmune disease risk and responses to cancer immunotherapy.

FCGR3A

REL (REL Proto-Oncogene, NF-KB Subunit): REL is a member of the NF-κB family of transcription factors that regulate immune responses, inflammation, cell growth, and survival. It controls the expression of genes involved in cell proliferation and apoptosis, and its abnormal activity has been linked to inflammatory diseases and certain cancers, especially lymphomas.

HOMER1 (Homer Scaffold Protein 1): HOMER1 is a scaffolding protein that regulates calcium signaling in neurons and muscle cells. It supports synaptic plasticity, neuronal development, and muscle excitation–contraction coupling. Changes in HOMER1 levels have been associated with neurological disorders, including schizophrenia and epilepsy.

HOMER1

KDSR (3-Ketodihydrosphingosine Reductase): KDSR is an enzyme that plays a key role in sphingolipid metabolism. It converts 3-ketodihydrosphingosine into dihydrosphingosine, an essential precursor for ceramide and sphingolipid synthesis. These molecules are vital for maintaining cell membrane structure and supporting cell signaling processes.

KDSR

TMEM132B (Transmembrane Protein 132B): TMEM132B is a membrane-bound protein implicated in neuronal signaling and synaptic plasticity. It has been linked to anxiety-related traits and is studied for its potential role in anxiety and mood disorders.

TMEM132B

PCDH8 (Protocadherin 8):PCDH8 is a gene that encodes a protein from the protocadherin family, which are cell adhesion molecules essential for forming and maintaining neural networks. It plays a key role in synaptic plasticity, important for learning and memory. Dysregulation of PCDH8 has been linked to neurodevelopmental disorders and is also being studied for its potential role in tumor suppression due to its function in cell-cell communication and nervous system signaling.

PCDH8

DAB1 (Disabled Homolog 1): DAB1 is a protein essential for brain development, particularly in controlling the positioning and migration of neurons. It plays a key role in the Reelin signaling pathway, which guides the organization of brain structures during early development. Mutations in DAB1 can lead to neurological disorders by disrupting the formation of proper neural networks.

DAB1

HHEX (Hematopoietically Expressed Homeobox): HHEX is a transcription factor that regulates genes involved in embryonic development and blood cell formation. It plays key roles in the development of the liver, thyroid, and pancreas, as well as in the differentiation of blood cells. Altered HHEX activity has been linked to developmental disorders and certain cancers, including leukemia.

HHEX

CCND3 (Cyclin D3): CCND3 is a protein that plays a key role in regulating the cell cycle, particularly in the transition from the G1 phase to the S phase. Like CCND2, it is essential for proper cell division. Dysfunctions or abnormalities in CCND3 have been linked to various cancers, especially lymphomas and leukemias.

CCND3

LCE3C (Late Cornified Envelope 3C): LCE3C is a gene that is part of the late cornified envelope gene cluster, involved in forming the cornified envelope in the epidermis. This structure is important for maintaining skin barrier function. Variations in LCE3C have been linked to skin disorders such as psoriasis, highlighting its role in skin integrity and immune responses.

LCE3C

UCN3 (Urocortin 3) is a peptide hormone in the corticotropin-releasing factor (CRF) family, mainly expressed in brain regions involved in stress regulation, such as the hypothalamus, amygdala, and brainstem. It functions as a neuromodulator, influencing stress and anxiety responses by binding to specific CRF receptors and modulating neuronal activity.

UCN3

SEC16B (SEC16 Homolog B): SEC16B is a gene involved in regulating protein trafficking within cells, especially in the endoplasmic reticulum (ER) to Golgi transport pathway. It plays a role in protein secretion and is important for cellular processes like the ER stress response and protein quality control.

SEC16B

TAFA1 (TAFA Chemokine Like Family Member 1): TAFA1 is a small cytokine-like protein involved in immune regulation and neuronal communication. It belongs to a family of proteins that act as brain-specific chemokines or neurokines, playing important roles in nervous system development and function.

TAFA1

ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor that binds chemokines without triggering a signal, acting as a decoy to regulate the immune response. Formerly known as the Duffy antigen receptor for chemokines (DARC), ACKR1 influences leukocyte migration by sequestering chemokines. It also plays a key role in malaria resistance by serving as a receptor for Plasmodium vivax. Variations in ACKR1 can affect susceptibility to infections and autoimmune diseases, underscoring its importance in immunity and disease.

ACKR1

FBH1 (F-Box DNA Helicase 1): FBH1 is a gene that encodes a DNA helicase involved in DNA repair and replication. This enzyme plays a key role in maintaining genomic stability and preventing the accumulation of DNA damage. Dysfunction in FBH1 can contribute to genomic instability, a common feature in cancer, highlighting its importance in cancer biology and the study of DNA repair mechanisms.

FBH1 (FBD4)

TEK (TEK receptor tyrosine kinase): TEK, also known as TIE2, is a receptor tyrosine kinase primarily expressed in endothelial cells. It plays a crucial role in angiogenesis and the maintenance of blood vessel integrity. TEK signaling is essential for vascular development and has been implicated in various vascular diseases, including venous malformations and angiosarcoma. Its role in angiogenesis also makes it a target for cancer therapy, especially in tumors where the formation of new blood vessels is a key factor for growth and metastasis.

TRAPPC14 (Trafficking Protein Particle Complex 14): TRAPPC14 is a component of the TRAPP complex, which plays a vital role in vesicular transport within cells. This protein helps regulate trafficking between membranous organelles such as the endoplasmic reticulum, Golgi apparatus, and endosomes. TRAPPC14 is part of the cellular machinery that ensures precise delivery of cargo proteins and lipids across compartments, essential for maintaining cellular homeostasis and function. Its role is especially important in protein secretion, membrane formation, and organelle integrity.

TRAPPC14

IFNK (Interferon kappa): IFNK is a cytokine belonging to the interferon family that plays a key role in regulating immune responses, especially in skin and mucosal immunity. It helps modulate inflammation and antiviral defenses by interacting with specific receptors on target cells. IFNK is mainly expressed in epithelial tissues, where it supports defense against viruses, bacteria, and other pathogens. It also contributes to tissue homeostasis and the regulation of epithelial cell growth and differentiation. Dysregulation of IFNK signaling has been linked to various immune-related conditions.

IFNK

TLR4 (Toll-Like Receptor 4): TLR4 is a gene that encodes a protein belonging to the toll-like receptor family, essential for the innate immune system. It recognizes bacterial lipopolysaccharides and plays a key role in triggering immune responses to pathogens. Dysregulation of TLR4 has been associated with various diseases, including sepsis, atherosclerosis, and autoimmune disorders.

TLR4

SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a gene that encodes a core component of the SWI/SNF chromatin remodeling complex. It plays a key role in regulating gene expression by modifying chromatin structure. Mutations in SMARCA2 are linked to disorders such as Nicolaides-Baraitser syndrome, which involves intellectual disability and sparse hair. Its function is essential for proper gene regulation and development.

SMARCA2

CAPS (Calcium-Activated Protease Substrate): CAPS is a protein that acts as a substrate for calcium-activated proteases, playing an important role in cellular processes regulated by intracellular calcium levels. It is involved in cell migration, division, and apoptosis—key functions for tissue development and repair. CAPS helps modulate cytoskeletal dynamics and cell adhesion, which are essential for maintaining cell structure and function. Its regulation by calcium signaling highlights its role in cellular homeostasis and responses to physiological and pathological conditions. Dysregulation of CAPS may contribute to various disease states.

CAPS

CDH23 (Cadherin-related 23): CDH23 encodes a protein that is part of the cadherin superfamily, known for its role in cell-cell adhesion. CDH23 is particularly important for the structure and function of the hair cells in the inner ear, which are responsible for hearing and balance. Mutations in CDH23 are associated with Usher syndrome and non-syndromic hearing loss, highlighting its significance for sensory function. Research on CDH23 focuses on understanding hearing mechanisms and developing treatments for related hearing impairments.

CDH23

ATP10B (ATPase Phospholipid Transporting 10B): ATP10B is a gene that encodes a protein belonging to the P-type ATPase family, involved in transporting lipids across cellular membranes. While its specific functions are not fully understood, ATP10B may play an important role in lipid metabolism and maintaining cellular homeostasis, with potential links to neurodegenerative diseases such as Parkinson’s.

ATP10B

NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a protein that functions as a post-transcriptional regulator, playing a key role in germ cell development. It is essential for maintaining germ cell viability and has been linked to studies on infertility and germ cell tumors.

NANOS1

PPA2 (Inorganic Pyrophosphatase 2): PPA2 is a gene that encodes an enzyme responsible for catalyzing the hydrolysis of pyrophosphate (PPi) into inorganic phosphate (Pi). This activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunction in PPA2 may affect energy production and nucleotide metabolism.

PPA2

CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a component of the CCR4-NOT complex, which plays a key role in regulating gene expression through mechanisms like mRNA degradation and transcriptional control. This gene is involved in several cellular processes, including immune response and development. Dysregulation of CNOT4 has been linked to cancer and other diseases, emphasizing its significance in gene regulation and disease.

CNOT4

AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2): AUTS2 is a gene involved in neurodevelopment and linked to autism spectrum disorder and intellectual disability. It plays a role in gene regulation and brain development, with mutations potentially affecting neural growth and function.

AUTS2

TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member): TAP2 is a gene that helps regulate antigen presentation in the immune system. It transports peptides into the endoplasmic reticulum, where they are loaded onto major histocompatibility complex (MHC) molecules. This process is essential for adaptive immune responses.


TAP2

MAPRE1 (Microtubule-Associated Protein, RP/EB Family, Member 1): MAPRE1, also known as EB1, is a protein involved in stabilizing and regulating microtubules, essential components of the cell’s cytoskeleton. It plays a key role in cell division, chromosome segregation, and is important for neuronal development and cancer biology.

MAPRE1

MSTN (Myostatin): MSTN is a protein that functions as a negative regulator of muscle growth and development. Reducing or blocking myostatin activity can lead to increased muscle mass and strength, making MSTN a key focus in research on muscle growth enhancement and treatments for muscle-wasting disorders.

MSTN

ARHGAP20 (Rho GTPase Activating Protein 20): ARHGAP20  is a gene involved in regulating Rho GTPases, which are key mediators of cytoskeletal dynamics, cell shape, movement, and growth. By promoting the inactivation of Rho GTPases, ARHGAP20 helps control cell migration and maintain cellular structure. Dysregulation of this signaling pathway may contribute to cancer progression, making ARHGAP20 a potential target for studying metastasis and developing anti-metastatic treatments.

ARHGAP20

PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme belonging to the paraoxonase family, which plays a role in detoxification and antioxidant defense. This enzyme helps protect cells against oxidative stress and lipid peroxidation, making it important for cardiovascular health and other conditions related to oxidative damage.

POM2

ATP8B2 (ATPase Phospholipid Transporting 8B2): ATP8B2 is a gene that encodes an ATPase enzyme involved in transporting phospholipids across cell membranes. This process is essential for maintaining membrane integrity and cellular homeostasis. ATP8B2 likely plays a role in regulating the lipid composition of cell membranes.

ATP8B2

ACE (Angiotensin-Converting Enzyme): ACE is a key enzyme in the Renin-Angiotensin System (RAS) that helps regulate blood pressure and fluid balance. It converts angiotensin I into angiotensin II, a powerful vasoconstrictor that affects blood vessel tone, electrolyte levels, and stimulates aldosterone release. ACE also plays important roles in heart function, kidney health, and inflammatory processes. Imbalances in ACE activity are linked to conditions such as hypertension, heart failure, and kidney disease.

NPSR1 (Neuropeptide S Receptor 1): NPSR1 is a gene that encodes a G protein-coupled receptor for neuropeptide S, involved in regulating arousal, anxiety, and other behavioral responses. It has been studied for its role in sleep-wake regulation and its potential impact on psychiatric conditions such as anxiety and panic disorder. Variations in NPSR1 are also linked to susceptibility to asthma and other inflammatory diseases, highlighting its broader significance in health and disease.

NPSR1

FANCI (FA Complementation Group I): FANCI is a key protein in the Fanconi anemia (FA) pathway, essential for DNA repair. It plays a vital role in responding to DNA damage and maintaining genomic stability. Mutations in FANCI can lead to Fanconi anemia, a disorder marked by bone marrow failure, increased cancer risk, and developmental abnormalities.

FANCI

GALNT2 (Polypeptide N-Acetylgalactosaminyltransferase 2): GALNT2 is a gene that encodes an enzyme involved in glycosylation, adding N-acetylgalactosamine to proteins. This modification is important for proper protein function and cellular communication. Variations in GALNT2 have been linked to lipid metabolism and are associated with blood lipid levels, influencing the risk of cardiovascular diseases.

GALNT2

NTN5 (Netrin 5): NTN5 is a member of the netrin family, which are key proteins involved in neural development, particularly in guiding axon growth. While NTN5’s role is less studied compared to other netrins, it is believed to play an important part in nervous system development and may have implications in neurodegenerative diseases.

NTN5

CAV1 (Caveolin-1): CAV1 is a key structural protein of caveolae — small invaginations in the plasma membrane present in many vertebrate cells. It plays an important role in cellular processes such as signal transduction, lipid metabolism, and endocytosis. Acting as a scaffolding protein, CAV1 regulates multiple signaling pathways, including the activity of endothelial nitric oxide synthase (eNOS), which is vital for maintaining vascular tone and blood flow. Alterations in CAV1 expression or function have been associated with various diseases, including cancer and cardiovascular disorders.

CAV1

CPED1 (Cadherin Like And PC-Esterase Domain Containing 1): CPED1 is a protein linked to cell adhesion and signaling. While its exact biological role remains unclear, it may contribute to developmental processes and has been associated with variations in body mass index and adiposity.

CPED1

LRRC32 (Leucine Rich Repeat Containing 32): LRRC32,also known as GARP, is a protein involved in regulating immune responses, particularly within T-regulatory cells. It plays a key role in maintaining immune tolerance and preventing autoimmune reactions.

LRRC32

NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase): NEDD4L is a gene that plays a key role in regulating ion transport and cellular signaling pathways. It is especially important in controlling sodium and water balance, making it relevant to hypertension and cardiovascular health. Its function in maintaining homeostasis highlights its significance in various health conditions.

NEDD4L

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a nuclear receptor that regulates lipid metabolism, especially in the liver. It plays a central role in breaking down fatty acids, promoting their oxidation, and lowering triglyceride levels. PPARA also influences inflammatory pathways and is a therapeutic target for managing hyperlipidemia.

PPARA

COL2A1 (Collagen Type II Alpha 1 Chain): COL2A1 is a gene that encodes type II collagen, a key structural protein found predominantly in cartilage. This collagen plays an essential role in maintaining cartilage strength and integrity. Mutations in COL2A1 are linked to several skeletal disorders, including osteoarthritis and different forms of chondrodysplasia.


COL2A1

TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. Although its specific functions are still being studied, TENT5A may influence important cellular processes.

TENT5A

GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R is a receptor for the hormone GLP-1, which plays a key role in regulating insulin secretion and glucose metabolism. When activated by GLP-1 or its analogs, GLP1R enhances insulin release, reduces glucagon secretion, and promotes feelings of fullness, making it an important target in treatments for type 2 diabetes and obesity.

GLP1R

NT5DC2 (5'-Nucleotidase Domain Containing 2): NT5DC2 is an enzyme that may be involved in nucleotide metabolism. While its specific biological functions are not fully characterized, enzymes in this family generally play important roles in purine and pyrimidine metabolism, which are essential for DNA and RNA synthesis, cellular signaling, and energy transfer.

NT5DC2

PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is a gene involved in the planar cell polarity pathway, which coordinates the orientation of cells within tissue planes. It plays an important role in neural development and function. Mutations in PRICKLE1 have been linked to epilepsy and neurodevelopmental disorders.

PRICKLE1

ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A is a G protein-coupled receptor that responds to the neurotransmitter norepinephrine. It plays a key role in regulating blood pressure, controlling vasoconstriction, and mediating the body’s fight-or-flight response.

ADRA2A

TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins similar to chemokines, involved in immune responses and inflammation. While its specific role is not fully understood, TAFA3 is believed to help regulate immune cell activity and may contribute to neuroinflammatory processes.

TAFA3

NEBL (Nebulette): NEBL is a gene that encodes a cardiac-specific actin-binding protein essential for the structural integrity and function of heart muscle cells. It plays a key role in organizing the actin cytoskeleton, which influences cardiac muscle contraction and overall heart performance. Mutations in NEBL have been linked to cardiomyopathies, highlighting its important role in maintaining cardiac muscle structure and function.

NEBL

CD151 (Cluster of Differentiation 151): CD151 is a cell surface protein belonging to the tetraspanin family. It plays an important role in cell adhesion, migration, and signal transduction by interacting with other proteins on the cell membrane. Through these interactions, CD151 helps regulate cellular communication and movement.

CD151

CNDP1 (Carnosine Dipeptidase 1): CNDP1 is a gene that encodes an enzyme responsible for breaking down carnosine, a dipeptide with potential antioxidant properties. This enzyme plays an important role in metabolic processes and is particularly relevant in diabetes, where it may help protect against diabetic nephropathy. Understanding CNDP1 is key to developing strategies for preventing diabetic complications.

CNDP1

KDR: KDR (also known as VEGFR2) is a gene that plays a central role in angiogenesis — the formation of new blood vessels. It encodes a receptor for vascular endothelial growth factor (VEGF), which is essential for blood vessel growth, development, and repair. Alterations in KDR can influence processes in cancer, where angiogenesis supports tumor growth, as well as in cardiovascular diseases.

IL1RL1 (Interleukin 1 Receptor Like 1): IL1RL1 is a receptor for interleukin-33 (IL-33), a cytokine involved in inflammation and allergic responses. Also known as ST2, IL1RL1 mediates IL-33’s effects in the immune system and plays a key role in conditions such as asthma, atopic dermatitis, and other allergic diseases. Its involvement in the IL-33 signaling pathway makes it a potential target for therapies aimed at allergic and inflammatory disorders.

IL1RL1

COPB1 (Coatomer Protein Complex Subunit Beta 1): COPB1 is a component of the coatomer protein complex that functions in intracellular transport. It is essential for moving proteins between the endoplasmic reticulum and the Golgi apparatus, a process critical for proper cell function and accurate protein sorting.

COPB1

PGLYRP2 (Peptidoglycan Recognition Protein 2): PGLYRP2 is a member of the peptidoglycan recognition protein family, involved in innate immunity by detecting bacterial cell wall components and triggering antibacterial responses. It helps maintain intestinal barrier integrity, supports a balanced gut microbiome, and protects against bacterial infections. PGLYRP2 is also under investigation for its role in inflammatory bowel diseases and its potential as a therapeutic target in gut immunity and inflammation.

NRSN1

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