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DNAJA4 (DnaJ Heat Shock Protein Family (Hsp40) Member A4) is a molecular chaperone that assists proteins in folding correctly and prevents the accumulation of misfolded proteins. It plays a crucial role in the cellular stress response, especially during heat shock, by supporting protein stability and promoting cell survival.

DNAJA4

SLK (STE20-like kinase) is a serine/threonine kinase that regulates key cellular processes such as proliferation, migration, survival, and cytoskeletal organization. Primarily located in the cytoplasm, SLK affects cell shape and movement by phosphorylating proteins associated with cytoskeletal dynamics, including FAK, paxillin, and cortactin. It plays a central role in signaling pathways that govern cell morphology and motility.

DSP (Desmoplakin) is a key protein that serves as a structural linker within cells, crucial for the integrity and function of desmosomes—specialized cell-cell adhesion complexes found in epithelial and cardiac tissues. DSP plays an essential role in maintaining mechanical strength and cellular cohesion by anchoring intermediate filaments to desmosomal cadherins. This connection supports tissue stability in areas subjected to high mechanical stress, such as the skin, heart, and certain mucous membranes. Mutations in the DSP gene are associated with various genetic disorders, including cardiomyopathies and skin diseases, highlighting its significance in tissue architecture and function.

ABLIM1 (Actin Binding LIM Protein 1) is a protein that helps organize the actin cytoskeleton — a structural network essential for cell movement, shape, and division. It plays important roles in muscle development and neural function, with disruptions linked to certain muscular and neurological disorders.

ABLIM1

SATB1 (SATB Homeobox 1) is a DNA-binding protein that plays a crucial role in organizing chromatin structure and regulating gene expression, particularly in T cells. It helps shape nuclear architecture by anchoring chromatin loops and controlling genes involved in T cell development and immune function. Alterations in SATB1 expression have been associated with immune regulation and various cancers.

SATB1

SOCS2 (Suppressor of Cytokine Signaling 2) is a protein that regulates the cytokine signaling pathway, helping maintain immune balance and prevent excessive inflammation. It modulates signals from growth hormones and various cytokines, influencing cell growth, differentiation, and survival.

SOCS2

ICA1L (Islet Cell Autoantigen 1-Like) is a gene linked to proteins involved in neuroendocrine secretion, especially in pancreatic beta cells. It is thought to play a role in regulating insulin secretion and may be associated with autoimmune responses in diabetes. Research on ICA1L could provide insights into the development of autoimmune diabetes and potential therapeutic targets.

ICA1L

DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a transmembrane protein that plays a crucial role in regulating key developmental processes such as adipogenesis and neurogenesis. It acts as a modulator of Notch signaling pathways and is involved in metabolic regulation as well as cancer progression.

DLK1

ADAMTSL1 (ADAMTS Like 1) is a gene from the ADAMTS family, recognized for its roles in extracellular matrix organization and cell-matrix interactions. While its exact function is still under investigation, its resemblance to metalloproteinases suggests it may be involved in tissue remodeling, development, and cell signaling. Changes in ADAMTSL1 could influence processes like cell adhesion, migration, and angiogenesis, potentially contributing to developmental and matrix-related disorders.

ADAMTSL1

SORBS3 (Sorbin and SH3 Domain Containing 3), also known as vinexin, is a gene involved in cytoskeletal organization and cell signaling. It helps connect the cytoskeleton to the cell membrane and participates in pathways that regulate cell movement and adhesion. Alterations in SORBS3 function may affect cellular structure and have been associated with cancer progression and metastasis.

SORBS3

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme responsible for hydrolyzing acylphosphates, which contributes to cellular energy metabolism. It plays a role in muscle function, potentially impacting muscle efficiency and endurance. Variations in ACYP2 have been linked to aging and age-related conditions, emphasizing its possible connection to energy regulation and lifespan.

ACYP2

DLC1 (Deleted in Liver Cancer 1) is a tumor suppressor gene that plays a crucial role in regulating cell behavior. It encodes a Rho GTPase-activating protein, which helps control cell shape, movement, and growth. The loss or inactivation of DLC1 is common in various cancers, and restoring its function is being explored as a potential cancer treatment.

DLC1

ACOXL (Acyl-CoA Oxidase-Like) is a protein associated with the acyl-CoA oxidase family, which plays a crucial role in the β-oxidation of very long-chain fatty acids within peroxisomes. Although its precise metabolic function is not yet fully understood, ACOXL is believed to contribute to lipid metabolism and the regulation of fatty acid breakdown. Research on ACOXL may offer valuable insights into metabolic disorders and diseases related to lipid storage and oxidation.

ACOXL

SLC44A1 (Solute Carrier Family 44 Member 1) is a gene that encodes a protein responsible for transporting choline, an essential nutrient involved in producing the neurotransmitter acetylcholine and maintaining cell membrane structure. This transporter supports vital processes such as nerve signaling and cell health. Disruptions in choline transport can impact brain function and have been associated with neurological disorders like Alzheimer’s disease.

SLC44A1

ADGRL4 (Adhesion G Protein-Coupled Receptor L4), also known as ELTD1, is a protein involved in angiogenesis and vascular development. It plays a key role in regulating endothelial cell function and the formation of new blood vessels, influencing processes such as wound healing, cancer progression, and cardiovascular health.

ADGRL4

CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein from the casein kinase 1 family, which plays a role in essential cellular functions such as cell division, regulation of the circadian rhythm, and Wnt signaling. By participating in Wnt signaling, CSNK1G1 may impact development and holds potential significance in cancer biology.

CSNK1G1

PDE6C (Phosphodiesterase 6C) is a gene that encodes a subunit of the phosphodiesterase 6 enzyme, which is essential for phototransduction in the retina. This process converts light into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C are linked to visual impairments and retinal disorders, underscoring its critical role in visual function.

PDE6C

CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein featuring WD repeat domains, known for mediating protein-protein interactions. Although its precise function is not fully determined, it is believed to be involved in cellular signaling or regulatory mechanisms, with ongoing studies focused on defining its specific roles.

CWF19L2

ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form essential components of the cell’s cytoskeleton. Actins play crucial roles in maintaining cell shape, enabling movement, and supporting cell division. While the precise function of ACTL7B is not yet fully understood, it is thought to contribute to cell structure and function, particularly in reproductive cells.

ACTL7B

CSNK2A1 (Casein Kinase 2 Alpha 1) is a gene that encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in regulating cell growth, proliferation, and signal transduction. Altered activity of CSNK2A1 has been associated with cancer development and certain developmental disorders.

CSNK2A1

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a vital role in metabolizing many drugs and natural compounds in the body. It assists the liver in detoxifying and eliminating these substances. Variations in the CYP2C9 gene can influence how individuals process medications, affecting drug efficacy and side effects, which is important for personalized medicine and dosing decisions.

CYP2C9

GTPBP10 (GTP-binding protein 10) is a gene that encodes a protein involved in cellular regulation through interactions with guanine nucleotides. As a member of the GTP-binding protein family, GTPBP10 is linked to processes such as protein synthesis, ribosome assembly, and mitochondrial function. Although its precise roles are still under investigation, it may contribute to GTPase activity and play a role in maintaining cellular and mitochondrial homeostasis.

GTPBP10

DLG2 (Discs Large Homolog 2) is a gene that encodes a protein from the membrane-associated guanylate kinase (MAGUK) family, which is essential for synaptic assembly and function. This protein plays a crucial role in the nervous system by supporting synaptic plasticity and neuronal signaling. Alterations in DLG2 have been linked to neurological disorders, underscoring its significance in brain development and function.

DLG2

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13) is a gene that encodes an enzyme involved in initiating O-linked glycosylation, a crucial post-translational modification process. It transfers N-acetylgalactosamine (GalNAc) to specific protein sites within the Golgi apparatus, influencing protein trafficking, secretion, and cell surface interactions. GALNT13 contributes to cell signaling, adhesion, and immune response, with its dysregulation associated with diseases such as cancer and metabolic disorders.

GALNT13

EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in regulating blood vessel constriction and blood pressure. It plays a crucial role in cardiovascular function and may contribute to the development of cardiovascular diseases.

EDNRA

CTNNA2 (Catenin Alpha 2) is a gene involved in cell adhesion and signaling, playing a key role in the nervous system. It contributes to synaptic plasticity and neuronal connectivity, which are essential for brain development and function. Alterations in CTNNA2 have been linked to neurological disorders.

CTNNA2

FAAP24 (Fanconi Anemia-Associated Protein 24) is a crucial protein associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure and an increased risk of cancer. FAAP24 plays a vital role in the DNA repair process, helping to preserve genomic stability. It is involved in the complex mechanisms that safeguard the integrity of our genetic material by coordinating DNA repair functions.

FAAP24

FUT2 (Fucosyltransferase 2) is a gene that encodes an enzyme involved in synthesizing histo-blood group antigens and determining secretor status. It catalyzes the transfer of fucose to specific molecules, enabling the production of glycoproteins and glycolipids found in bodily fluids and epithelial tissues. FUT2 activity affects the expression of the H antigen — a key precursor to ABO blood group antigens — and plays a crucial role in whether these antigens are present in secretions like saliva.

FUT2

NIPSNAP3A (Nipsnap Homolog 3A) is a gene that encodes a protein believed to be involved in intracellular trafficking and mitochondrial function. While its exact role remains unclear, it is thought to contribute to cellular metabolism and energy production. Ongoing research on NIPSNAP3A may provide insights into mitochondrial health and metabolic disorders.

NIPSNAP3A

VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a vital cellular process responsible for breaking down and recycling cellular components. It plays an essential role in the formation of autophagosomes, which help preserve cellular balance. Dysregulation of VMP1 can disrupt cell homeostasis and has been associated with conditions such as pancreatitis and certain types of cancer.

VMP1

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme in the glutathione S-transferase family, which helps detoxify harmful substances. It plays a crucial role in breaking down carcinogens, drugs, and oxidative stress byproducts. Variations in GSTM3 may affect an individual's risk of developing cancer, neurodegenerative diseases, and other conditions linked to detoxification processes.

GSTM3

CXCR2 (C-X-C Motif Chemokine Receptor 2) is a receptor that binds C-X-C motif chemokines, such as CXCL5, and is primarily found on neutrophils. It plays a crucial role in guiding neutrophil movement and activation during inflammation. CXCR2 is involved in various pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it a key target for therapeutic interventions.

CXCR2

VPS37B is a gene that encodes a protein involved in the endosomal sorting complex required for transport (ESCRT) machinery. It plays a crucial role in intracellular membrane trafficking and protein sorting, especially in the formation of multivesicular bodies (MVBs). By helping to direct ubiquitinated proteins toward lysosomal degradation, VPS37B helps maintain cellular homeostasis and regulate signal transduction pathways.

VPS37B

ARRB1 (Arrestin Beta 1) is a protein that plays a crucial role in regulating G protein-coupled receptor (GPCR) signaling. It is involved in the desensitization and internalization of activated GPCRs, helping to deactivate downstream signals. ARRB1 is essential for processes such as sensory perception, neurotransmission, and hormonal regulation.

ARRB1

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor belonging to the Iroquois homeobox family, known for its role in early embryonic development. It plays a key part in the formation and patterning of organs and tissues, especially in the heart and craniofacial areas. Changes in IRX6 may be associated with developmental abnormalities and are of interest in research on congenital and craniofacial disorders.

IRX6

DIAPH3 (Diaphanous-Related Formin 3) is a gene that encodes a protein involved in regulating the actin cytoskeleton, which is essential for cell shape, movement, and adhesion. It also plays a key role in cell division and has been linked to conditions such as auditory neuropathy and disorders affecting cellular motility.

DIAPH3

SLC4A4 (Solute Carrier Family 4 Member 4) is a gene that encodes a sodium bicarbonate cotransporter involved in regulating the body's acid-base balance. It is primarily expressed in the kidneys and pancreas, playing a crucial role in bicarbonate reabsorption and pH regulation. Disruptions in SLC4A4 function can hinder the body's ability to maintain acid-base homeostasis, contributing to conditions such as renal tubular acidosis.

SLC4A4

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that produces a protein responsible for regulating enzyme activity in the skin. This protein helps preserve the skin’s barrier function and supports the immune defense system. Mutations in SPINK5 are associated with Netherton syndrome, a disorder characterized by skin inflammation, scaling, and a higher risk of allergies.

SPINK5

AKR1A1 (Aldo-Keto Reductase Family 1 Member A1) is a gene that encodes an enzyme involved in cellular detoxification and metabolism. It helps reduce aldehydes and ketones, contributing to the regulation of oxidative stress and the breakdown of harmful compounds. AKR1A1 also plays a role in glucose and steroid metabolism, as well as in the synthesis of prostaglandins and neurotransmitters, supporting overall cellular balance and defense against oxidative damage.

AKR1A1

DES (Desmin) is a gene that encodes an intermediate filament protein essential for the structural stability of muscle cells. It helps maintain the integrity and function of skeletal and cardiac muscle tissue. Mutations in DES are linked to muscle disorders, including myopathies and cardiomyopathies, highlighting its key role in muscle health.

ADH4 (Alcohol Dehydrogenase 4) is an enzyme that belongs to the alcohol dehydrogenase family. It plays a crucial role in metabolizing various alcohols, including ethanol. In addition, ADH4 is involved in the conversion of retinol (vitamin A) into retinaldehyde, an essential step for vision and overall retinoid metabolism.

ADH4

MICB (MHC Class I Polypeptide-Related Sequence B) is a gene that encodes a stress-induced protein involved in activating the immune system. It acts as a ligand for the NKG2D receptor found on natural killer (NK) cells and certain T cells, aiding the immune system in identifying and responding to infected or altered cells. MICB expression rises in response to cellular stress conditions, such as viral infections or tumor growth, enhancing immune surveillance and targeted destruction of affected cells.

ASCC3

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolizes thiopurine drugs like azathioprine, mercaptopurine, and thioguanine, which are used to treat autoimmune diseases and cancer. Genetic variations in TPMT influence enzyme activity, affecting drug metabolism and the risk of toxicity. People with low TPMT activity have a higher risk of severe bone marrow suppression. TPMT testing helps tailor thiopurine dosages to minimize side effects and enhance treatment safety.

TPMT

AAK1 (AP2-Associated Kinase 1) is a gene that encodes a protein kinase involved in clathrin-mediated endocytosis — a critical process cells use to absorb molecules from their environment. AAK1 helps regulate the internalization and trafficking of cell surface receptors, supporting vital cellular functions such as signaling and membrane recycling.

AAK1

SLC24A2 (Solute Carrier Family 24 Member 2) is a gene that encodes a potassium-dependent sodium/calcium exchanger, which helps regulate calcium levels within cells. It is mainly expressed in the retina and brain, suggesting key roles in vision and neural function. Alterations or malfunctions in SLC24A2 may impact neurological and visual health.

SLC24A2

SLC22A23 (Solute Carrier Family 22 Member 23) is a gene that encodes a transporter protein responsible for moving organic ions and small molecules across cell membranes. While its precise function and substrates are not yet fully understood, SLC22A23 is thought to play a role in transporting organic compounds in various tissues, potentially affecting drug metabolism and other physiological processes.

SLC22A23

ARHGAP9 (Rho GTPase Activating Protein 9) is a gene that encodes a protein involved in regulating Rho family GTPases—molecules that control cell shape, movement, and structure. By modulating these signaling pathways, ARHGAP9 plays a role in cell migration, adhesion, and growth. It has been studied in cancer research for its potential impact on tumor cell invasion and metastasis.

ARHGAP9

SLC35F1 (Solute Carrier Family 35 Member F1) is a gene that encodes a protein responsible for transporting nucleotide sugars across cell membranes. These sugars are crucial for glycosylation — an essential process that modifies proteins, impacting their folding, stability, and function. By facilitating proper glycosylation, SLC35F1 plays a key role in sustaining cellular function, immune response, and may influence disease mechanisms such as cancer.

SLC35F1

GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a gene that encodes a transcriptional repressor involved in regulating hematopoiesis and immune function. It plays a crucial role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been linked to immune deficiencies and blood-related cancers, emphasizing its importance in immune and hematologic health.

GFI1

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8) is an enzyme that plays a role in remodeling the extracellular matrix, which is crucial for tissue development and repair. It helps regulate angiogenesis and may function to inhibit tumor growth and cancer metastasis. Research on ADAMTS8 investigates its effects on cancer progression and vascular diseases.

ADAMTS8

SHPRH (SNF2 Histone Linker PHD RING Helicase) is a gene that encodes a DNA helicase involved in repairing DNA damage and maintaining genomic stability. It plays a critical role in the DNA damage response by aiding in the repair of double-strand breaks, which helps prevent mutations that could lead to cancer. SHPRH is known as a tumor suppressor, with mutations linked to an increased risk of various cancers.

SHPRH

BSN (Bassoon Presynaptic Cytomatrix Protein) is a gene that encodes a protein essential for organizing active zones at synaptic terminals. This protein supports neurotransmitter release and plays a key role in synaptic transmission and plasticity, which are critical for learning and memory. Changes in BSN function or expression may affect neurological health and have been linked to neuropsychiatric disorders.

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular byproduct. It helps prevent the harmful accumulation of this compound. Dysfunction of D2HGDH is associated with D-2-hydroxyglutaric aciduria, a disorder linked to symptoms such as developmental delays, epilepsy, and heart conditions.

D2HGDH

IRS1 (Insulin Receptor Substrate 1) is a crucial signaling protein that facilitates the body’s response to insulin and growth factors. Serving as an adaptor, IRS1 links activated insulin receptors to various downstream pathways, controlling processes such as glucose uptake, glycogen synthesis, protein production, and cell growth. Dysregulation of IRS1 is associated with insulin resistance, type 2 diabetes, and may also contribute to cancer and cardiovascular diseases.

IRS1

ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays key roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRB1

NUDT15 (Nudix Hydrolase 15) is an enzyme that plays a crucial role in the metabolism of thiopurine drugs, including azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can decrease its activity, increasing the risk of severe side effects such as bone marrow suppression. Testing for NUDT15 helps guide the right thiopurine dosage to reduce toxicity and improve treatment safety.

NUDT15

ACVR1 (Activin Receptor Type 1) is a gene that encodes a receptor for activin, a protein involved in regulating cell growth and differentiation. This receptor plays a key role in signaling pathways that control how cells proliferate and develop. Mutations in ACVR1 are linked to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by abnormal bone formation in soft tissues.

ACVR1

ADAM17 (A Disintegrin and Metalloproteinase 17) is an enzyme that controls the release of membrane-bound proteins, including growth factors, cytokines, and receptors. It plays a crucial role in cell signaling, inflammation, and tissue remodeling, and its dysregulation has been associated with conditions such as arthritis, cancer, and cardiovascular disease.

ADAM17

H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a part of histone H4, a core protein critical for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing an essential role in maintaining genomic stability.

H4C13

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein), also known as RIAM, is a protein that plays a key role in integrin activation, which is essential for cell adhesion and migration. By linking Rap1 GTPases to the actin cytoskeleton, APBB1IP supports cell attachment to the extracellular matrix, affecting immune cell function, wound healing, and tumor metastasis. Its role in these processes makes it significant for research on immune regulation and cancer.

APBB1IP

SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein with a currently unclear role in cellular functions. It may be involved in signaling or transport processes within the cell, but further research is necessary to understand its specific functions and potential impact on health and disease.

SMIM21

ADCY3 (Adenylate Cyclase 3) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital signaling molecule. ADCY3 plays a key role in regulating cellular processes such as neurotransmission and hormone signaling. It is also involved in neuropsychiatric disorders and metabolic regulation.

ADCY3

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein crucial for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, leading to the release of histamine and other inflammatory mediators. This process plays a role in allergy and asthma symptoms, making FCER1A an important target for therapies designed to reduce allergic responses.

FCER1A

DOK6 (Docking Protein 6) is a member of the DOK protein family that acts as a substrate and regulator of tyrosine kinases. It plays a crucial role in signaling pathways involved in nerve cell growth, differentiation, and function, with potential relevance to neurological disorders.

DOK6

The AGT gene plays a vital role in controlling blood pressure and maintaining the body’s fluid balance. Variations or mutations in the AGT gene can influence the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is essential for managing these health conditions.

ADAMTS18 is a gene that encodes an enzyme involved in the processing of extracellular matrix components. This enzyme plays a crucial role in tissue development and maintenance. Mutations in ADAMTS18 have been linked to abnormalities in the eyes, skin, and skeleton.

ADAMTS18

SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, highlighting its importance in both development and tumorigenesis.

SOX4

ADAM32 (ADAM Metallopeptidase Domain 32) belongs to the ADAM family of enzymes, recognized for their roles in cell adhesion and the proteolytic processing of cell surface proteins. These enzymes play key roles in biological processes such as cell signaling, fertilization, and cell migration. Although the specific functions of ADAM32 are still being studied, it is thought to participate in tissue remodeling, cell-cell interactions, and possibly reproductive functions.

ADAM32

DACH1 (Dachshund Homolog 1) is a transcription factor that helps regulate gene expression in cells. It plays important roles in processes such as development and cell differentiation. Depending on the context, especially in different types of cancer, DACH1 can function either as a tumor suppressor or an oncogene.

DACH1

ACAN (Aggrecan) is a gene that encodes aggrecan, a key proteoglycan found in the extracellular matrix of cartilage and other connective tissues. Aggrecan is essential for maintaining cartilage structure and ensuring proper joint function. Mutations in ACAN can disrupt bone and cartilage development, leading to skeletal disorders such as spondyloepimetaphyseal dysplasia.

ACAN

KCTD9 (Potassium Channel Tetramerization Domain Containing 9) is a gene that encodes a protein involved in protein-protein interactions and the assembly of protein complexes. It may play a role in regulating ion channels or other cellular processes through its function in complex formation and signaling pathways.

KCTD9

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, specifically in the breakdown of ether lipids. This enzyme plays a role in regulating bioactive lipids, which affect cell signaling and inflammatory responses. Changes in AGMO activity may be associated with lipid-related disorders and inflammatory conditions.

AGMO

GPSM1 (G Protein Signaling Modulator 1) is a gene that regulates G protein signaling pathways, which are crucial for cellular responses to external signals. It is involved in cell polarization and directional movement. GPSM1 has been researched for its potential role in cancer, especially in tumor cell migration and invasion.

GPSM1

DLG5 (Discs Large Homolog 5) is a protein that belongs to the Discs Large (DLG) family, involved in organizing cellular structures and facilitating signal transmission at cell junctions. It plays a key role in maintaining the integrity of epithelial cells and may be associated with conditions such as inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

MMUT (Methylmalonyl-CoA Mutase) is a gene that encodes a mitochondrial enzyme crucial for energy metabolism. It catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an important step in breaking down certain amino acids and fatty acids. This reaction supports the citric acid cycle and overall cellular energy production. Mutations in MMUT can result in methylmalonic acidemia (MMA), a rare metabolic disorder characterized by a toxic buildup of methylmalonic acid in the body.

MMUT

Death-Associated Protein (DAP) is a key regulator of cell death, playing an important role in apoptosis — the programmed cell death process. This mechanism is essential for maintaining healthy cells and preventing diseases like cancer. Understanding DAP’s function is crucial for studying the cell life cycle and developing treatments for conditions where cell death regulation is impaired.

DCDC2B (Doublecortin Domain Containing 2B) is a protein that is part of the doublecortin family, recognized for its role in brain development. Proteins in this family have doublecortin domains that bind to microtubules, aiding in neuronal migration and the proper formation of the cerebral cortex. The proper function of DCDC2B is vital for normal brain development, and alterations in this protein may be linked to neurological disorders and developmental problems.

DCDC2B

ATP2B4 is a gene that encodes a calcium pump responsible for removing calcium ions from cells. This pump plays a vital role in maintaining intracellular calcium balance, which is essential for muscle contraction, cell signaling, and nerve function. Proper regulation of ATP2B4 is important for cardiovascular health, and its dysfunction has been linked to heart-related diseases.

ATP2B4

CSF3R (Colony Stimulating Factor 3 Receptor) is a receptor that binds to colony-stimulating factor 3 (CSF3), a cytokine responsible for regulating the production, differentiation, and function of granulocytes. This interaction is crucial for the survival and activation of neutrophils, which are key cells in the body’s innate immune defense. Alterations in CSF3R, such as mutations or overexpression, can disrupt granulocyte function and proliferation, contributing to conditions like chronic neutrophilic leukemia and severe congenital neutropenias.

CSF3R

ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein in the ADP-ribosylation factor (ARF) family of small GTPases. It plays a key role in regulating intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in processes such as membrane remodeling, vesicle formation, and membrane fusion within cells.

ARL4A

ADAM15 (A Disintegrin and Metalloproteinase 15) is a member of the ADAM protein family, which is involved in cell adhesion, migration, and the proteolysis of extracellular matrix proteins. ADAM15 plays important roles in cell signaling and tissue remodeling processes.

ADAM15

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the production of glycosylphosphatidylinositol (GPI) anchors, which attach specific proteins to the cell membrane. These GPI-anchored proteins are essential for processes such as cell adhesion, signal transmission, and immune system function. Mutations in PIGN can disrupt GPI anchor formation, leading to disorders characterized by developmental delays, neurological issues, and congenital abnormalities.

PIGN

BTBD7 (BTB Domain Containing 7) is a protein involved in regulating epithelial-mesenchymal transition (EMT), a crucial process in embryonic development, tissue repair, and cancer metastasis. It helps control cell shape and movement by influencing the cell’s internal framework. Dysregulation of BTBD7 is linked to fibrosis and tumor progression, underscoring its role in tissue remodeling and its potential as a therapeutic target in fibrotic diseases and metastatic cancer.

BTBD7

ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that is part of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It helps mark specific proteins for degradation, thereby controlling the timely progression of cells through various stages of division. Proper functioning of ANAPC4 is essential for normal cell cycle regulation, and its malfunction may contribute to abnormalities associated with cancer development and progression.

ANAPC4

DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a crucial role in the development of the spinal cord and nervous system. It is vital for directing the differentiation of neural progenitor cells and ensuring the proper formation of neural structures during early development.

DBX1

The UNCX (Unc-4 Homeobox) gene encodes a transcription factor that contains a homeobox domain. It plays a crucial role in neuronal development by helping to determine neuronal identity and guiding axon connections within the developing nervous system.

UNCX

BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.

SSBP3 (Single Stranded DNA Binding Protein 3) is a protein that specifically binds to single-stranded DNA. It plays a vital role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is essential for proper cellular function and holds potential significance in cancer biology.

SSBP3

ARL4C (ADP Ribosylation Factor Like GTPase 4C) is a member of the ADP-ribosylation factor family of GTP-binding proteins. It plays a role in cellular signaling and membrane trafficking, contributing significantly to cytoskeletal organization and cell movement. ARL4C expression has also been linked to the development and progression of certain cancers.

ARL4C

SLC2A9 (Solute Carrier Family 2 Member 9) is a gene that encodes a transporter protein responsible for moving urate in the kidneys. This protein plays a key role in regulating uric acid levels in the blood and is associated with the risk of developing gout.

SLC2A9

SFTPA1 (Surfactant Protein A1) is a gene that encodes a protein essential for lung function. This protein plays a key role in the innate immune defense of the respiratory tract and helps reduce surface tension in the lungs, supporting breathing efficiency.

SFTPA1

SLC6A2 (Solute Carrier Family 6 Member 2) is a protein that acts as the norepinephrine transporter, responsible for the reabsorption of norepinephrine into presynaptic nerve terminals. This transporter plays a crucial role in regulating mood, alertness, and the stress response. It is also a target for certain antidepressant drugs. Malfunctions in SLC6A2 are linked to psychiatric and neurological disorders such as depression and attention deficit hyperactivity disorder (ADHD).

SLC6A2

BCAT1 (Branched Chain Amino Acid Transaminase 1) is a crucial enzyme that helps regulate the metabolism of branched-chain amino acids (BCAAs) — leucine, isoleucine, and valine. It primarily functions in the cytosol of brain tissues and certain tumors, where it catalyzes the reversible conversion of BCAAs into their α-keto acids, initiating their breakdown process. BCAT1 plays a key role in maintaining nitrogen balance and supporting neurotransmitter production, which impacts brain function and development. Additionally, BCAT1 is involved in cancer cell growth and metabolism, making it a potential biomarker for certain cancers.

BCAT1

IGF2 (Insulin-Like Growth Factor 2) is a protein that plays a crucial role in growth and development, particularly during fetal stages. It is part of the insulin-like growth factor system, which affects cell growth, proliferation, and survival. IGF2 also promotes muscle growth and differentiation, and its activity has been associated with certain cancers due to its role in encouraging cell proliferation.

IGF2

EGR2 (Early Growth Response 2) is a transcription factor that plays a crucial role in regulating the development of the nervous and immune systems. It is especially important for myelination in the peripheral nervous system and helps control cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its vital role in neural development and function.

EGR2

SPATA2L (Spermatogenesis-associated protein 2-like) is a protein related to SPATA2, which is known to regulate cell death and inflammation pathways. Although the exact role of SPATA2L is still being studied, it is believed to participate in important cellular processes like apoptosis, autophagy, and immune response regulation. SPATA2L may influence key signaling pathways that control cell survival and death, helping maintain tissue balance and protect against stressors such as DNA damage or infection.

SPATA2L

The FTO (Fat Mass and Obesity-Associated) gene is a key genetic factor linked to obesity and body mass index (BMI). It plays an important role in regulating metabolic processes such as energy balance and fat storage. Variations in the FTO gene can influence appetite control and how the body expends energy, making it central to understanding obesity risk and potential treatments.

ARHGAP32 is a protein that regulates the activity of Rho GTPases, key molecules involved in controlling cell shape, movement, and attachment. By affecting the dynamics of the actin cytoskeleton, ARHGAP32 plays an essential role in processes such as cell migration and proliferation. Its function is particularly important in neurological development and disorders, as well as in cancer, where cell migration and invasion are crucial.

ARHGAP32

ALG13 is a gene that encodes a key subunit of the UDP-N-acetylglucosaminyltransferase complex, which is involved in the early stages of glycosylation. Glycosylation is an essential cellular process where carbohydrates are attached to proteins or lipids, influencing their folding, stability, and function. ALG13 plays a vital role in synthesizing the glycan precursor needed for proper protein glycosylation within the endoplasmic reticulum. Mutations in ALG13 are associated with congenital disorders of glycosylation, leading to various clinical issues such as developmental delays, epilepsy, and metabolic problems.

ALG13

Phospholamban (PLN) is a regulatory protein primarily found in cardiac muscle cells. It plays a crucial role in controlling the contraction and relaxation of heart muscle by modulating the activity of the sarcoplasmic reticulum calcium pump (SERCA). At rest, PLN inhibits SERCA to regulate calcium levels, helping maintain calcium balance in heart cells. When activated, PLN is phosphorylated, which removes this inhibition and increases calcium uptake, supporting efficient cardiac muscle relaxation and overall heart function.

SORBS3

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