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GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5) is a gene involved in lipid metabolism, specifically in breaking down glycerophosphodiesters into glycerol phosphate and alcohol. This function supports membrane component turnover and regulates intracellular signaling. GDPD5 plays a role in lipid signaling pathways, with potential implications for metabolic and cardiovascular health.

GDPD5

SPG7 (Spastic Paraplegia 7, Paraplegin): SPG7 is a mitochondrial protein involved in the maintenance and function of mitochondria, particularly in ATPase assembly. It plays a crucial role in neural and mitochondrial health. Mutations in SPG7 are a common cause of hereditary spastic paraplegia, a neurodegenerative disorder characterized by progressive stiffness and weakness in the lower limbs.

SPG7

FOXK1 (Forkhead Box K1) is a transcription factor in the forkhead box (FOX) family, defined by a distinctive DNA-binding domain known as the forkhead box. FOXK1 plays a crucial role in regulating gene expression related to cell growth, proliferation, differentiation, and longevity. It is especially significant in muscle development and regeneration, as well as in controlling metabolic functions. Because of its role in these vital processes, FOXK1 is also studied for its involvement in various diseases, including cancer.

FOXK1

FAP (Fibroblast Activation Protein Alpha): FAP is a gene that encodes an enzyme called fibroblast activation protein alpha. This enzyme is produced by activated fibroblasts within the tumor microenvironment. It plays a key role in tissue remodeling and is regarded as a potential therapeutic target in cancer treatment.

GRM5 (Metabotropic Glutamate Receptor 5): GRM5 is part of the metabotropic glutamate receptor family and plays a crucial role in neuronal signaling. It helps regulate synaptic transmission and plasticity. Dysregulation of GRM5 has been associated with neurological disorders such as schizophrenia.

GRM5

SRR (Serine Racemase): SRR is an enzyme that catalyzes the production of D-serine, a co-agonist of the NMDA receptor. Both are essential for neurotransmission and synaptic plasticity in the brain. Changes in SRR activity can affect glutamatergic signaling and have been linked to neurodegenerative diseases like Alzheimer’s as well as psychiatric disorders such as schizophrenia, emphasizing its crucial role in brain function and mental health.

DIPK2A (Divergent Protein Kinase Domain 2A) is a gene believed to be involved in kinase activity, potentially playing a role in cellular signaling pathways. Although it is not well studied, it may affect how cells communicate and regulate various biological processes.

DIPK2A

ULK3 (Unc-51 Like Kinase 3): ULK3 is part of the serine/threonine kinase family and plays a role in regulating essential cellular processes such as autophagy, which helps break down and recycle cellular components. Although its exact functions and effects on human health and disease are still being studied, ULK3 is important for maintaining cellular homeostasis.

ULK3

SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 belongs to the solute carrier family, which is responsible for transporting various molecules across cellular membranes. Although the precise function of SLC25A34 is not yet fully defined, members of this family play essential roles in metabolic processes and maintaining cellular homeostasis. Research on this gene may provide valuable insights into metabolic disorders and cellular transport mechanisms.

SLC25A34

CTBP2 (C-Terminal Binding Protein 2) is a gene that encodes a transcriptional co-repressor involved in regulating gene expression. It plays a key role in developmental processes and may influence cancer-related pathways by modulating the activity of tumor suppressor genes and oncogenes.

CTBP2

ARHGAP21 is a gene that encodes a protein responsible for regulating Rho GTPases, a group of proteins essential for controlling the actin cytoskeleton, cell shape, and movement. This protein plays important roles in cellular functions such as intracellular trafficking and cell migration, and it may be associated with neurological disorders.

ARHGAP21

GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2) is a gene that regulates the MAPK/ERK signaling pathway, which is crucial for controlling cell growth, differentiation, and survival. It plays a role in mediating cellular responses to external signals such as growth factors and stress. GAREM2 is particularly important in cancer research, as disruptions in this pathway are often associated with tumor development.

GAREM2

TSHZ3 (Teashirt Zinc Finger Homeobox 3): TSHZ3 is a transcription factor that plays a crucial role in embryonic development and tissue differentiation. It is involved in the formation and growth of multiple organs and tissues. Mutations in TSHZ3 can lead to developmental abnormalities.

TSHZ3

BCL2L1 (BCL2 Like 1) is a protein belonging to the Bcl-2 family that plays a crucial role in regulating apoptosis, or programmed cell death. By blocking the release of factors that initiate cell death from the mitochondria, BCL2L1 promotes cell survival and helps maintain cellular health under stress. It is present in many tissues and is involved in disease processes, including cancer, where its overexpression enables cancer cells to evade apoptosis. This resistance is often associated with chemotherapy failure and worse outcomes for cancer patients.

BCL2L1

WSB1 (WD Repeat And SOCS Box Containing 1): WSB1 is a member of the SOCS (Suppressor of Cytokine Signaling) box family, which participates in protein degradation pathways. It plays a crucial role in regulating various signaling pathways and is involved in the response to hypoxia as well as in the regulation of thyroid hormone activation.

WSB1

DOCK9 (Dedicator of Cytokinesis 9) is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs are key regulators that activate Rho family GTPases, which control essential cellular processes such as cytoskeletal organization, cell shape, and migration. DOCK9 plays a vital role in affecting cell morphology, adhesion, and movement, making it important in developmental biology and cancer progression.

DOCK9

VLDLR (Very Low-Density Lipoprotein Receptor): VLDLR is a protein involved in lipid metabolism, responsible for mediating the uptake of triglyceride-rich lipoproteins into cells for energy use or storage. It also plays a crucial role in neuronal migration and cerebellar development. Mutations in VLDLR can cause dysequilibrium syndrome, a rare genetic disorder characterized by cerebellar hypoplasia and cognitive impairment, underscoring its importance in both lipid processing and brain development.

VLDLR

HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1): HAPLN1 is a protein involved in linking hyaluronic acid and proteoglycans within the extracellular matrix. It plays a crucial role in maintaining tissue integrity and is associated with the function of cartilage and connective tissues.

HAPLN1

DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a homeobox gene that plays a crucial role in early brain development, particularly in the diencephalon and mesencephalon areas. It is vital for the formation and differentiation of various brain structures. Alterations in DMBX1 expression or function may be associated with developmental brain disorders.

DMBX1

BTG1 (B-cell Translocation Gene 1): BTG1 is a gene with multiple functions within the cell, primarily involved in regulating the cell cycle and cellular differentiation. It serves as a tumor suppressor gene in specific contexts, helping to control cell growth and proliferation. In addition to its tumor-suppressive roles, BTG1 participates in various other cellular processes, making it a significant focus in cancer research and developmental biology.

BTG1

ELAVL2 (ELAV Like RNA Binding Protein 2): ELAVL2 is an RNA-binding protein involved in the post-transcriptional regulation of gene expression. As a member of the ELAVL family, it plays essential roles in mRNA stabilization and translation. ELAVL2 has been associated with neurodevelopmental disorders and various neurological conditions.

ELAVL2

SGMS1 (Sphingomyelin Synthase 1): SGMS1 is an enzyme involved in sphingolipid metabolism, essential for maintaining cell membrane integrity and signaling. It plays a key role in converting ceramide into sphingomyelin, a process important for cell signaling and apoptosis. Dysregulation of SGMS1 is linked to metabolic and neurodegenerative diseases.

SGMS1

DCDC2C (Doublecortin Domain-Containing Protein 2C) is a gene that encodes a protein from the doublecortin (DCX) family, recognized for its role in brain development. It participates in processes such as neuronal migration and axon guidance. Although the exact function of DCDC2C is still under investigation, it may be associated with neurodevelopmental processes and disorders.

DCDC2C

SLC30A9 (Solute Carrier Family 30 Member 9): SLC30A9 is a zinc transporter that helps regulate zinc levels inside cells. Zinc is essential for various biological functions, including cell growth, immune system response, and neuronal development. Impairment of SLC30A9 function can disrupt zinc balance, potentially affecting cellular health and overall physiological processes.

SLC30A9

DUSP15 (Dual Specificity Phosphatase 15) is a gene that encodes a phosphatase involved in regulating cell signaling by removing phosphate groups from specific target proteins. It plays a role in pathways related to cell growth and differentiation. Although its exact functions are still under investigation, DUSP15 may contribute to key cellular responses and signaling mechanisms.

DUSP15

ANKH (Ankylosis Homolog): ANKH is a gene linked to familial chondrocalcinosis, a genetic disorder that causes calcium crystal deposits in the joints, resulting in painful arthritis. ANKH encodes a protein that helps regulate extracellular inorganic pyrophosphate levels, which are crucial for joint health and the mineralization of cartilage and bone tissues.

ANKH

POLR1F (RNA Polymerase I Subunit F): POLR1F is a crucial component of RNA polymerase I, responsible for transcribing ribosomal RNA (rRNA), a key part of ribosomes. Ribosomes drive protein synthesis within cells, making POLR1F essential for cellular growth and function. Mutations or malfunctions in POLR1F can disrupt ribosome production and function, potentially causing diseases linked to impaired protein synthesis. Research on POLR1F helps us understand vital cellular processes related to ribosome activity and protein production.

POLR1F

AMN1 (Amnion Associated Transmembrane Protein 1): AMN1 is a gene that encodes a transmembrane protein associated with the amnion — the protective membrane surrounding the developing fetus. While its precise function is not yet fully understood, studies indicate it may play a role in regulating amniotic fluid and supporting fetal development. Its significance in prenatal physiology and potential links to congenital disorders make it a subject of ongoing research.

AMN1

SERPINB1 (Serpin Family B Member 1): SERPINB1 is a protein that belongs to the serpin (serine protease inhibitor) family. It plays a key role in regulating proteolytic pathways involved in inflammation and immune responses. SERPINB1 primarily inhibits neutrophil elastase and cathepsin G, enzymes released by neutrophils during inflammation, helping to prevent excessive tissue damage. Its protective function in maintaining lung tissue integrity is especially important in conditions like cystic fibrosis and chronic obstructive pulmonary disease (COPD), where reduced or impaired SERPINB1 activity can contribute to increased tissue degradation and disease progression.

SERPINB1

C10ORF53 (Chromosome 10 Open Reading Frame 53): C10ORF53 is a gene identified by its location on chromosome 10. Although its precise function is still unknown, C10ORF53 represents a promising area of interest in genetic research. Investigating this gene may help reveal new biological pathways and disease connections, providing insights into cellular processes related to this region of the genome.

C10ORF53

EXOC1L (Exocyst Complex Component 1 Like): EXOC1L is a lesser-known part of the exocyst complex, a cellular system responsible for vesicle trafficking and exocytosis. It may contribute to the precise delivery of vesicles to the plasma membrane, influencing cell signaling, membrane growth, and secretion.

EXOC1L

H3C6 is a gene believed to play a role in chromatin structure and function, which is crucial for DNA packaging and gene regulation. Although its function is not fully understood yet, research is focused on discovering how H3C6 might affect gene activity, cellular processes, and disease mechanisms.

H3C6

ABT1 (Activator of Basal Transcription 1) is a protein involved in regulating gene expression by initiating transcription. It functions as part of the RNA polymerase I (Pol I) machinery, which transcribes ribosomal RNA (rRNA) genes. ABT1 acts as a transcription factor, binding to specific promoter sequences of rRNA genes and recruiting other transcription factors along with the Pol I complex to facilitate rRNA production.

ABT1

MYOM1 (Myomesin 1): MYOM1 is a structural protein found in the M-band of sarcomeres within muscle cells. It plays a crucial role in muscle contraction and elasticity. Mutations in MYOM1 can affect muscle function and have been associated with muscle diseases and cardiomyopathies.

MYOM1

HMGA2 (High Mobility Group AT-Hook 2): HMGA2 is a gene that encodes a protein which binds to DNA and chromatin to help regulate gene expression. It plays a crucial role in embryonic development and cell differentiation. Alterations in HMGA2 are associated with various cancers, ranging from benign tumors like lipomas to aggressive malignancies such as certain sarcomas.

HMGA2

MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is an enzyme that plays a key role in folate metabolism and the regulation of homocysteine levels. It converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, allowing the remethylation of homocysteine to methionine — a precursor to S-adenosylmethionine (SAM), the body's main methyl donor. Variants in the MTHFR gene, such as C677T and A1298C, can influence enzyme activity, potentially changing folate metabolism, increasing homocysteine levels, and affecting methylation-dependent processes like DNA methylation and neurotransmitter synthesis.

MTHFR

CST7 (Cystatin F) is a gene that encodes a protein inhibitor of cysteine proteases, key enzymes involved in protein degradation. This protein helps regulate immune function by controlling protease activity in immune cells such as lymphocytes and macrophages, playing an essential role in maintaining balanced immune responses.

CST7

ZNF799 (Zinc Finger Protein 799): ZNF799 is a member of the zinc finger protein family, recognized for their function in DNA binding and transcriptional regulation. Although the specific functions of ZNF799 are not yet fully defined, its zinc finger motifs indicate that it may play a role in regulating gene expression, potentially affecting various cellular processes and contributing to development or disease.

ZNF799

DACT1 (Dishevelled-Binding Antagonist of Beta-Catenin 1) is a protein involved in the Wnt signaling pathway, which is crucial for regulating embryonic development, cell growth, and differentiation. By modulating Wnt signaling, DACT1 helps control key processes in tissue development and maintenance. Alterations in DACT1 activity have been associated with various cancers, underscoring its role in cell proliferation and making it a key focus of cancer research.

DACT1

ZBED3 (Zinc Finger BED-Type Containing 3): ZBED3 is a gene that encodes a zinc finger protein, a type of protein domain involved in regulating gene expression. Although the specific functions of ZBED3 are still under investigation, zinc finger proteins typically bind to DNA and impact gene activity. ZBED3 may play a role in modulating gene expression, contributing to various cellular processes and pathways.

ZBED3

LYST (Lysosomal Trafficking Regulator): LYST is a gene that controls lysosomal trafficking, which is essential for proper cellular digestion and waste elimination. Mutations in LYST can cause Chediak-Higashi syndrome, a rare disorder characterized by abnormal lysosome formation, weakened immune function, and a higher risk of infections.

LYST

HLA-DQB1 (Human Leukocyte Antigen DQ Beta 1): HLA-DQB1 is a gene that encodes part of the MHC class II molecule, which is essential for presenting foreign peptide antigens to CD4+ T helper cells. It plays a crucial role in initiating immune responses and maintaining self-tolerance. Variations in HLA-DQB1 have been associated with autoimmune diseases such as type 1 diabetes and celiac disease.

HLA-DQB1

HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2): HERC2 is an E3 ubiquitin-protein ligase that plays a crucial role in the ubiquitin–proteasome system, which controls protein degradation. It participates in various cellular processes, including DNA repair and pigment production, especially in determining eye color. Variations in HERC2 are associated with neurodevelopmental disorders and pigmentary irregularities.

HERC2

ERG (ETS Transcription Factor ERG) is a gene that encodes a member of the ETS family of transcription factors, which regulate gene expression. ERG plays a crucial role in blood vessel formation, blood cell development, and bone growth. Changes in ERG have been associated with several cancers, including prostate cancer and Ewing sarcoma.

EPHA5 (EPH Receptor A5): EPHA5 is a member of the ephrin receptor subfamily of protein-tyrosine kinases, which play a crucial role in developmental processes, particularly in the nervous system. It interacts with specific ligands to regulate neuronal migration and axon guidance. Disruption of EPHA5 signaling has been associated with neurodevelopmental disorders and certain types of cancer, making it a key focus in research on neural development and a potential target for therapies in neurological diseases and oncology.

EPHA5

SPATA6 (Spermatogenesis Associated 6): SPATA6 is a gene important in spermatogenesis—the process of sperm cell development. It plays a crucial role in the formation and function of spermatozoa. Mutations in SPATA6 can lead to male infertility, making it a significant factor in reproductive health.

SPATA6

APOA1 (Apolipoprotein A-I) is a gene that encodes the primary protein component of high-density lipoprotein (HDL) in the blood. It plays a crucial role in cholesterol transport by helping to remove excess cholesterol from tissues and delivering it to the liver for excretion. Variations in APOA1 can affect HDL levels and influence the risk of cardiovascular disease.

APOA1

H2BC5 (Histone Cluster 2, H2bc5): H2BC5 is a protein that belongs to the histone H2B family. These proteins play crucial roles in packaging and organizing DNA within the nucleus of eukaryotic cells. H2BC5 helps form nucleosomes, the fundamental repeating units of chromatin, where DNA is wrapped around a core of histone proteins. Through various modifications, H2BC5 and other histones regulate gene expression, DNA replication, and repair, contributing to the dynamic structure and function of chromosomes.

H2BC5

CNDP2 (Carnosine Dipeptidase 2): CNDP2 is an enzyme closely related to CNDP1 that participates in the metabolism of carnosine and anserine. While its function and significance are less understood compared to CNDP1, CNDP2 is believed to play a role in muscle and brain health. Ongoing research into CNDP2 may reveal new insights into metabolic health and disease.

CNDP2

LAMA4 (Laminin Subunit Alpha 4): LAMA4 is a member of the laminin family, essential for cell adhesion and maintaining the integrity of the extracellular matrix. It plays important roles in tissue organization, angiogenesis, and is involved in various pathological conditions, including cancer and vascular diseases.

LAMA4

LINGO2 (Leucine-Rich Repeat And Ig Domain-Containing 2): LINGO2 is a gene involved in neuronal development and function. It is thought to play a role in axon growth and myelination. Dysregulation of LINGO2 has been associated with neurological disorders such as Parkinson’s disease and essential tremor.

LINGO2

CALCRL (Calcitonin Receptor-Like): CALCRL is a receptor that constitutes a crucial component of the calcitonin gene-related peptide (CGRP) receptor complex. It plays a significant role in cardiovascular function by regulating vasodilation and helping to maintain blood pressure balance.

CALCRL

OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene that plays a crucial role in embryonic development, especially in the formation of the heart and urogenital system. Proper regulation of OSR1 is vital, as mutations or dysregulation can result in developmental abnormalities. Research on OSR1 is key to understanding congenital defects and developmental biology.

OSR1

FBLN5 (Fibulin 5): FBLN5 is a protein involved in the assembly of elastic fibers and the organization of connective tissue. It plays a vital role in maintaining the integrity and elasticity of the extracellular matrix, which is essential for proper skin, vascular, and lung function. Dysregulation of FBLN5 is linked to tissue stiffness, age-related macular degeneration, and organ fibrosis, highlighting its importance in tissue remodeling and disease.

FBLN5

LTBR (Lymphotoxin B Receptor): LTBR is a protein crucial for the development and organization of lymphoid tissues. It plays a key role in immune responses, particularly in the formation of lymph nodes and secondary lymphoid organs. Abnormalities in LTBR function are linked to autoimmune diseases and immune system disorders, making it a significant focus in immunological research.

LTBR

APOBEC1 (Apolipoprotein B mRNA Editing Enzyme, Catalytic Polypeptide 1) is an RNA-editing enzyme that alters apolipoprotein B (apoB) mRNA, resulting in a shorter version of the protein in the intestine. This editing process is crucial for lipid metabolism and lipoprotein formation. Dysregulation of APOBEC1 can affect cholesterol balance and has been associated with research on cardiovascular and lipid-related diseases.

APOBEC1

HTR5A (5-Hydroxytryptamine Receptor 5A): HTR5A is a gene that encodes a serotonin receptor. Serotonin receptors are involved in various neurological processes such as mood regulation, appetite, and sleep. HTR5A is specifically believed to play a role in modulating serotonin signaling in the brain.

HTR5A

FGD4 (FYVE, RhoGEF, and PH Domain Containing 4): FGD4 is a gene that encodes a guanine nucleotide exchange factor responsible for specifically activating Cdc42, a member of the Rho family of GTPases. This activation is essential for regulating cytoskeletal organization, cell shape, and migration. Mutations in FGD4 are linked to Charcot-Marie-Tooth disease, a disorder affecting peripheral nerves, highlighting its critical role in nerve development and function.

FGD4

CYBA (Cytochrome B-245 Alpha Chain) is a gene that encodes a crucial component of the NADPH oxidase complex, which allows immune cells—especially phagocytes—to produce reactive oxygen species (ROS). These ROS are vital for destroying invading pathogens. Mutations in CYBA can disrupt this defense mechanism, resulting in chronic granulomatous disease, a disorder characterized by recurrent infections.

CYBA

SLC23A1 (Solute Carrier Family 23 Member 1): SLC23A1 is a protein critical for transporting ascorbic acid (vitamin C) into cells. It is vital for maintaining optimal vitamin C levels, which support immune function, collagen synthesis, and antioxidant protection. Genetic variations in SLC23A1 can impact individual vitamin C requirements and affect susceptibility to conditions related to vitamin C deficiency.

SLC23A1

L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is a protein involved in chromatin organization and the regulation of gene expression. It functions in repressing target genes and is particularly significant in cancer research due to its potential role in tumor suppression.

L3MBTL1

C1D (Nuclear Nucleic Acid-Binding Protein C1D) is a gene that encodes a nuclear protein involved in binding nucleic acids and assembling ribonucleoprotein complexes. It plays a role in RNA processing and regulating transcription. C1D is also associated with DNA repair and may have significant implications in cancer biology.

ATP9A (ATPase Phospholipid Transporting 9A) is a protein that facilitates the transport of phospholipids across cellular membranes. It plays a vital role in membrane trafficking and maintaining phospholipid balance, which is essential for cell growth, division, and differentiation. Dysregulation of ATP9A has been associated with neurological disorders, highlighting its importance in maintaining proper membrane composition and cellular function.

ATP9A

GZMB (Granzyme B): GZMB is a serine protease produced by cytotoxic T lymphocytes and natural killer (NK) cells. It plays a critical role in the immune response by triggering apoptosis in virus-infected or tumor cells through the cleavage of specific intracellular substrates. Proper function of GZMB is crucial for effective immune surveillance, and its dysregulation can result in decreased defense against infections and cancer, underscoring its importance in immune protection and cellular homeostasis.

GZMB

MPPED1 (Metallophosphoesterase Domain Containing 1): MPPED1 is a protein thought to be part of the metallophosphoesterase family, suggesting it plays a role in phosphatase activity and metal ion regulation. Its expression in the brain implies a possible function in neural development and brain activity. Research on MPPED1 may provide valuable insights into neurological processes and disorders, particularly those involving metal ion balance and phosphatase functions.

MPPED1

ASB3 (Ankyrin Repeat and SOCS Box Protein 3) is a gene that encodes a protein containing ankyrin repeats and a SOCS box domain, both of which are involved in cellular protein homeostasis. ASB3 plays a role in targeting specific proteins for ubiquitination and degradation, contributing to the regulation of protein turnover and cellular signaling pathways.

ASB3

NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3) is a gene that encodes an RNA methyltransferase involved in modifying mitochondrial tRNAs. This modification is crucial for proper mitochondrial protein synthesis and function. Mutations in NSUN3 have been associated with mitochondrial diseases.

NSUN3

SOX5 (SRY-Related HMG-Box Gene 5): SOX5 is a member of the SOX family of transcription factors that play a key role in regulating embryonic development and determining cell fate. SOX5 is involved in several biological processes, including chondrogenesis, nervous system development, and the differentiation of various cell types. It functions by binding to DNA and controlling the expression of genes essential for cell growth, development, and specialization. Mutations or dysregulation of SOX5 have been linked to a range of developmental disorders and other pathological conditions.

SOX5

ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor involved in regulating gene expression. It is thought to play significant roles in immune function and cell survival. ZFAT has been associated with autoimmune diseases and is researched for its role in lymphocyte development and activity.

ZFAT

AZIN2 (Antizyme Inhibitor 2): AZIN2 is a protein that regulates the activity of ornithine decarboxylase, a key enzyme involved in polyamine biosynthesis. It works by inhibiting antizyme, which normally suppresses ornithine decarboxylase. Polyamines are essential for cell growth and differentiation, and abnormalities in their metabolism—potentially affected by AZIN2—have been associated with cancer because of their role in cell proliferation.

AZIN2

CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene involved in brain development and neural function. It is thought to play a role in regulating the immune system and synaptic plasticity. Variations in CSMD1 have been associated with neuropsychiatric disorders, including schizophrenia and cognitive performance.

CSMD1

GATA2 (GATA Binding Protein 2) is a transcription factor that plays a crucial role in regulating genes involved in blood cell formation (hematopoiesis) and endothelial cell function. It is essential for the development and maintenance of hematopoietic stem cells and the immune system. Mutations in GATA2 are associated with several blood disorders, including GATA2 deficiency, which can lead to immunodeficiency, myelodysplastic syndrome, and acute myeloid leukemia.

GATA2

GRIA1: GRIA1 is a gene that encodes a key subunit of AMPA receptors, which are essential for fast synaptic transmission in the brain. These receptors respond to glutamate, the primary excitatory neurotransmitter in the nervous system. The GRIA1 subunit plays a vital role in synaptic plasticity, which underlies learning and memory. Alterations or mutations in GRIA1 have been linked to neurological disorders such as epilepsy and neurodegenerative diseases, making it an important target in neuroscience research.

GRIA1

CXCR4 (C-X-C Motif Chemokine Receptor 4) is a gene that encodes a receptor involved in the regulation of the immune system and cell movement. This receptor binds to its ligand, CXCL12, playing a critical role in guiding the migration and trafficking of immune cells. CXCR4 is vital for proper immune function and is associated with several diseases, including cancer and HIV infection.

CXCR4

GPR26 (G Protein-Coupled Receptor 26) is an orphan receptor with an unknown ligand and physiological function. It is thought to play a role in the central nervous system, potentially affecting mood and behavior. Studies suggest that GPR26 may be associated with neurological and psychiatric disorders, making it a key area of interest in neuroscience and drug development.

GPR26

FMO2 (Flavin Containing Monooxygenase 2): FMO2 is an enzyme that plays a crucial role in the metabolism of xenobiotics, drugs, and other foreign compounds. It utilizes flavin adenine dinucleotide (FAD) as a cofactor to help detoxify nitrogen-containing substances. FMO2 is mainly expressed in the lungs, and genetic variations can impact its activity, affecting individual responses to certain medications and environmental toxins.

FMO2

FCHSD2 (FCH And Double SH3 Domains 2): FCHSD2 is a protein involved in essential cellular processes such as endocytosis and cytoskeletal organization. It plays a key role in vesicle transport and cell signaling, contributing to membrane dynamics. FCHSD2 has also been linked to certain cancers, making it important for understanding cellular communication and disease mechanisms.

FCHSD2

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor that binds to C-X-C motif chemokines and plays a crucial role in guiding leukocyte migration to inflammatory sites. It is particularly important for recruiting neutrophils, which are essential for the body’s initial defense against infection or injury. Dysregulated CXCR2 signaling is associated with chronic inflammatory diseases such as COPD and asthma, and it also contributes to the tumor-promoting inflammatory environment in cancer. Therefore, targeting CXCR2 signaling is a promising therapeutic strategy for treating inflammatory diseases and limiting cancer progression.

CXCR2

CITED2 (Cbp/p300-Interacting Transactivator With Glu/Asp-Rich Carboxy-Terminal Domain 2): CITED2 is a transcriptional regulator that affects gene expression by interacting with multiple transcription factors. It plays a crucial role in embryonic development, including the formation of the heart and nervous system, and is involved in cellular responses to low oxygen levels (hypoxia). Dysregulation of CITED2 is associated with congenital defects and various developmental disorders.

CITED2

PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that is crucial for protein digestion. This enzyme is necessary for breaking down dietary proteins in the stomach and small intestine into smaller peptides and amino acids, which can then be absorbed and utilized by the body.

PRSS16

VAV2 (Vav Guanine Nucleotide Exchange Factor 2): VAV2 is a guanine nucleotide exchange factor (GEF) that transmits signals from tyrosine kinase receptors to Rho GTPases. It plays a crucial role in regulating cell shape, movement, and proliferation by influencing cytoskeletal dynamics and cell signaling pathways. Dysregulation of VAV2 has been linked to cancer progression, making it a significant focus in research on tumor development and metastasis.

VAV2

LPA (Lysophosphatidic Acid): LPA is a bioactive lipid that functions as a potent signaling molecule, influencing processes such as cell growth, movement, and survival. It signals by binding to specific G protein-coupled LPA receptors on cell membranes and is produced through the breakdown of phospholipids. Beyond its normal physiological roles, LPA is associated with conditions like cancer, fibrosis, and cardiovascular disease.

FLNB (Filamin B): FLNB is a gene that encodes a protein essential for cross-linking actin filaments in the cytoskeleton. This protein plays a key role in maintaining the structure and function of cells. Mutations in FLNB cause a group of skeletal disorders known as filaminopathies, which include conditions such as spondylocarpotarsal synostosis syndrome and Larsen syndrome, marked by skeletal malformations and joint dislocations.

FLNB

ZIC2 (Zic Family Member 2): ZIC2 is a transcription factor that plays a crucial role in neural development, particularly in the formation of the midbrain and hindbrain. Mutations in ZIC2 are associated with holoprosencephaly, a developmental disorder affecting brain and facial structure.

ZIC2

EFNA5 (Ephrin A5): EFNA5 is a member of the ephrin family that acts as a ligand for Eph receptors. These interactions are crucial in developmental processes such as axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can result in abnormal development and has been associated with cancer progression.

EFNA5

FUT3 (Fucosyltransferase 3): FUT3 is a gene that encodes an enzyme involved in the synthesis of Lewis blood group antigens. These antigens are found on the surface of red blood cells and mucosal epithelial cells, where they contribute to cell adhesion and signaling.

FUT3

CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene that encodes an RNA-binding protein belonging to the CUGBP/Elav-like family. Proteins such as CELF4 play key roles in RNA processing and the post-transcriptional regulation of gene expression. CELF4’s functions likely involve RNA metabolism and regulation, impacting various cellular processes.

CELF4

CNTNAP5 (Contactin-Associated Protein-Like 5) is a gene that encodes a protein belonging to the contactin-associated protein (CASPR) family. These proteins play key roles in neural development by aiding in the formation of specialized connections between nerve cells. CNTNAP5 is thought to contribute to the organization of neural circuits and proper synaptic function within the nervous system.

CNTNAP5

FBLL1 (Fibroblast-Like Protein 1): FBLL1 is a gene that encodes a protein involved in regulating interactions within the extracellular matrix (ECM). It plays key roles in tissue regeneration, vascular development, and embryonic growth by influencing the ECM's structure and composition. Proper FBLL1 function supports tissue maintenance and repair, while its dysregulation has been associated with conditions such as cancer, fibrosis, and inflammatory disorders.

FBLL1

ZDHHC20 (Zinc Finger DHHC-Type Palmitoyltransferase 20): ZDHHC20 is an enzyme in the DHHC family of palmitoyltransferases. These enzymes catalyze protein palmitoylation, a post-translational modification where a fatty acid, palmitate, is attached to specific cysteine residues on target proteins. This modification regulates the proteins’ cellular localization, stability, and function. ZDHHC20 specifically facilitates the palmitoylation of certain proteins, influencing their membrane association and intracellular trafficking. Through this role, ZDHHC20 affects key cellular processes such as signal transduction, synaptic plasticity, and membrane trafficking. Dysregulation of ZDHHC20 has been associated with various neurological disorders.

ZDHHC20

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a key protein involved in the MAPK/ERK signaling pathway, which regulates cell growth, division, and differentiation. Mutations in BRAF are associated with several cancers, including melanoma, thyroid, and colorectal cancer, as well as some non-cancerous conditions like cardiofaciocutaneous syndrome, which affects the heart, facial features, and skin.

BRAF

EPM2A is a gene that encodes laforin, a phosphatase enzyme involved in glycogen metabolism. Laforin plays a crucial role in preventing the accumulation of abnormal glycogen deposits called Lafora bodies, which are toxic to neurons. Mutations in EPM2A cause Lafora disease, a rare and fatal form of progressive myoclonus epilepsy. This underscores the vital role of EPM2A in maintaining neuronal health through metabolic regulation.

EPM2A

CPS1 (Carbamoyl-phosphate synthase 1): CPS1 is a crucial enzyme in the urea cycle that plays an essential role in detoxifying ammonia in the body. It catalyzes the formation of carbamoyl phosphate from ammonia and bicarbonate, initiating the process of urea synthesis in the liver. The urea cycle is vital for removing excess nitrogen generated from protein and amino acid breakdown, preventing the toxic accumulation of ammonia in the bloodstream. CPS1 activity is tightly regulated to maintain nitrogen balance and prevent hyperammonemia, a condition associated with neurological damage and other serious complications.

CPS1

ANO3 (Anoctamin 3) is a gene that encodes a calcium-activated chloride channel involved in smooth muscle function and neurological processes. Mutations in ANO3 are associated with movement disorders such as dystonia, emphasizing its role in neuromuscular signaling and muscle control.

ANO3

SLC12A1 (Solute Carrier Family 12 Member 1): SLC12A1 is a transporter protein that belongs to the solute carrier (SLC) family. It plays a crucial role in the kidney by enabling the reabsorption of sodium and chloride ions. This function is vital for maintaining electrolyte balance and regulating blood pressure. During the complex filtration process in the renal system, SLC12A1 ensures accurate ion reabsorption to support overall bodily homeostasis.

SLC12A1

SLC25A2 (Solute Carrier Family 25 Member 2): SLC25A2 is a gene that encodes a mitochondrial transport protein responsible for moving ornithine across the mitochondrial membrane. This transport is crucial for the urea cycle and amino acid metabolism. Dysfunction in SLC25A2 can lead to metabolic disorders, highlighting its important role in metabolic pathways and its potential as a therapeutic target for related diseases.

2SLC25A2

SLC20A2 (Solute Carrier Family 20 Member 2): SLC20A2 is a phosphate transporter that plays a crucial role in maintaining phosphate balance. Mutations in this gene are associated with primary familial brain calcification, a condition characterized by abnormal calcium-phosphate deposits in the brain.

SLC20A2

STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a crucial transcription factor that controls key cellular processes such as cell growth, differentiation, and programmed cell death (apoptosis). It plays an essential role in the immune response and is closely linked to cancer development, with abnormal STAT3 activity associated with various cancers and other diseases.

STAT3

SIDT1 (SID1 Transmembrane Family Member 1): SIDT1 is a protein involved in the cellular uptake of double-stranded RNA (dsRNA). It plays a key role in RNA interference and antiviral responses, supporting the body’s defense against viral infections and facilitating research into RNA-based therapeutic strategies.

SIDT1

CPPED1, also known as Serine/threonine-protein phosphatase 6 regulatory subunit 2, is a key regulatory protein involved in cellular signaling pathways. Primarily found in the cytoplasm and nucleus, CPPED1 functions as a regulatory subunit of protein phosphatase 6 (PP6), a member of the PPP family of serine/threonine phosphatases. It plays a crucial role in modulating PP6 activity, which is vital for processes such as cell cycle progression, DNA damage response, and protein degradation. Through its interaction with PP6, CPPED1 helps regulate substrate specificity and the enzyme’s subcellular localization.

SLC12A1

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