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

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

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

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

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

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

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

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

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

FRA10AC1 (Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) or FRA10A Candidate 1): FRA10AC1 is a gene linked to a rare fragile site on chromosome 10. Fragile sites are specific regions in the genome that are more prone to breakage under certain conditions. These sites can contribute to chromosomal instability and have been associated with various genetic disorders and cancers. Although the precise functions of FRA10AC1 are not fully understood, research is focused on its role in maintaining genomic stability and its potential connection to developmental disorders and disease risk.

FRA10AC1

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

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

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.

PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signaling and cytoskeletal dynamics. It plays a crucial role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been associated with cancer progression and metastasis, as it enhances tumor cell mobility and invasion into surrounding tissues.

PEAK1

TPO (Thyroid Peroxidase) is a gene that encodes an enzyme essential for the synthesis of thyroid hormones. This enzyme facilitates the iodination and coupling of hormone precursors, resulting in the production of thyroid hormones (T3 and T4). Dysregulation of TPO can lead to thyroid disorders.

SHC1 (SHC Adaptor Protein 1): SHC1 is a protein that plays a crucial role in cellular signaling by functioning as an adaptor in pathways that regulate cell growth, differentiation, and survival. It mediates the activation of the Ras/MAPK signaling pathway, affecting how cells respond to growth factors and cytokines. Dysregulation of SHC1 has been associated with the development of various cancers and cardiovascular diseases, highlighting its important role in cell signaling and disease progression.

SHC1

SPATA2 (Spermatogenesis Associated 2): SPATA2 is a protein involved in regulating cell death and inflammation through its role in the TNF receptor signaling pathway. It helps recruit key enzymes to signaling complexes, which are essential for activating cell death and inflammatory responses. Research on SPATA2 focuses on understanding its role in spermatogenesis, cell death, and inflammation, with implications for diseases where these processes are disrupted.

SPATA2

FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a crucial role in the production of polyunsaturated fatty acids — essential components of cell membranes and precursors to key signaling molecules. Variations in FADS2 activity can affect how the body metabolizes essential fatty acids and are linked to metabolic and inflammatory health outcomes.

FADS2

C1QL3 (Complement C1q Like Protein 3): C1QL3 (Complement C1q Like Protein 3) is part of the C1q/tumor necrosis factor-related protein family. It may be involved in immune and inflammatory responses. Although its exact physiological function is still under investigation, C1QL3 might contribute to immune system regulation and neuroinflammation.

C1QL3

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B is a protein that regulates the activity of protein phosphatase 1 (PP1), an enzyme involved in glycogen metabolism. It plays a key role in controlling glycogen storage in the liver and helps maintain glucose balance, impacting metabolic health and related disorders.

PPP1R3B

GPM6A (Glycoprotein M6A): GPM6A is a gene that encodes a glycoprotein primarily expressed in the nervous system. It plays a crucial role in neurite outgrowth and the formation of neuronal networks, as well as in the development and maintenance of the myelin sheath, which is essential for efficient nerve signal transmission. GPM6A is associated with neurological disorders such as schizophrenia and bipolar disorder due to its role in neuronal plasticity and myelination. Alterations in GPM6A expression or function may impact synaptic connectivity and brain function, potentially contributing to these neuropsychiatric conditions.

GPM6A

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

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

TNKS (Tankyrase): TNKS is a protein-coding gene that represents the activity of a poly(ADP-ribose) polymerase involved in several essential cellular processes, including the regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a crucial role in cell proliferation and survival and has been researched for its potential role in cancer therapy due to its impact on tumor growth.

TNKS

ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in breaking down extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been associated with diseases such as kidney and cardiovascular disorders and may also impact fertility.

ADAMTS16

MRO (Maestro Heat-Like Repeat Family Member): MRO is a protein containing a maestro heat-like repeat, suggesting a potential role in the heat shock response or cellular stress adaptation. Its precise functions in human physiology and possible links to disease remain unclear, making it a focus of ongoing research.

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

BDNF (Brain-Derived Neurotrophic Factor) is a gene that encodes a protein essential for the survival, growth, and maintenance of neurons in the brain. BDNF plays a vital role in synaptic plasticity, learning, and memory. Changes in BDNF levels have been linked to a variety of neurological and psychiatric disorders.

BDNF

GATA3 (GATA Binding Protein 3) is a transcription factor that regulates the development and differentiation of multiple cell types, including T cells and mammary gland cells. It is essential for proper immune function and breast tissue formation. Mutations in GATA3 can lead to immunodeficiency and breast cancer.

GATA3

WDR70 (WD Repeat Domain 70) is a gene that encodes a protein containing WD repeat domains, which help facilitate protein-protein interactions. This protein plays a role in important cellular processes such as cell cycle regulation and may also be involved in RNA processing. Although its precise functions are still under investigation, WDR70 is believed to contribute to cellular organization and overall cell function.

WDR70

LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is a gene involved in cell adhesion and communication. It plays a key role in maintaining the integrity of cell-to-cell interactions and signaling, and is recognized for its potential tumor suppressor activity, particularly in gastric cancer.

LRRC3B

FOXP2 (Forkhead Box P2) is a gene that encodes a transcription factor essential for speech and language development. It plays a key role in neural circuits related to communication. Mutations in FOXP2 have been linked to speech and language impairments, making it a critical gene in the study of human language and its evolution.

FOXP2

NUDT12 (Nudix Hydrolase 12): NUDT12 is an enzyme that supports cellular health by hydrolyzing oxidized nucleotides, preventing their integration into DNA and RNA. It plays a vital role in shielding cells from oxidative damage and in preserving genomic integrity and cellular redox balance.

NUDT12

SLC5A6 (Solute Carrier Family 5 Member 6): SLC5A6 is a gene that encodes the sodium-dependent vitamin transporter, which is essential for the absorption of biotin (a B-vitamin) and possibly other water-soluble vitamins. This transporter plays a crucial role in maintaining adequate vitamin levels in the body, with deficiencies potentially leading to issues such as skin problems, hair loss, and neurological symptoms.

SLC5A6

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

CENPW (Centromere Protein W): CENPW is a gene that plays a critical role in chromosome segregation during cell division, contributing to the formation and function of the centromere. It is vital for accurate cell division, and its dysfunction may lead to chromosomal instability, which is commonly observed in many cancers.

CENPW

Latex allergy is an immune response triggered by natural rubber latex, a material derived from the sap of rubber trees. Commonly found in medical supplies and everyday products, latex can cause reactions ranging from mild skin irritation to severe anaphylaxis in sensitive individuals.

Latex

ATP2B2 (ATPase Plasma Membrane Ca²⁺ Transporting 2) is a gene that encodes a calcium pump responsible for regulating intracellular calcium levels. This pump plays a crucial role in various cellular processes such as signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been linked to hearing loss and vestibular disorders, underscoring its importance in maintaining calcium balance within sensory hair cells essential for hearing and balance.

ATP2B2

PAFAH1B2 (Platelet-Activating Factor Acetylhydrolase 1B, Subunit 2): PAFAH1B2 is a gene involved in the metabolism of platelet-activating factor, a lipid mediator in inflammation. It plays a role in regulating inflammatory responses and may affect cardiovascular health and immune system function.

PAFAH1B2

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.

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

FLT3 (Fms-Like Tyrosine Kinase 3): FLT3 is a receptor tyrosine kinase involved in the proliferation and differentiation of hematopoietic stem cells into mature blood cells. Mutations in FLT3, especially activating mutations, are commonly found in acute myeloid leukemia (AML) and are associated with poor prognosis. Targeting FLT3 with inhibitors is a therapeutic strategy used to treat AML and other blood cancers with FLT3 mutations.

FLT3

PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a protein from the liprin family that plays a crucial role in cell communication and adhesion. It is involved in regulating the formation and maintenance of synapses, particularly within the central nervous system. PPFIA2 affects the development and plasticity of neural networks, and alterations in its function may be associated with neurological disorders.

PPFIA2

CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6): CYP2B6 is an enzyme involved in the metabolism of several drugs, including bupropion, efavirenz, methadone, and certain anesthetics. Genetic variations in CYP2B6 influence enzyme activity, affecting drug metabolism, efficacy, and the risk of side effects. Testing for CYP2B6 can help tailor medication dosing and minimize the risk of adverse reactions.

CYP2B6

BCL11A (B-Cell CLL/Lymphoma 11A): BCL11A is a transcription factor critical for the development and function of blood cells. It plays a central role in regulating fetal hemoglobin levels and is a primary target in research on sickle cell disease and beta-thalassemia. BCL11A is also implicated in the progression of certain blood cancers.

BCL11A

GC (Group-Specific Component, also known as Vitamin D Binding Protein): GC, also known as Vitamin D Binding Protein, is a protein that binds and transports vitamin D and its metabolites in the bloodstream. It plays a key role in regulating calcium and phosphate balance, as well as modulating immune and inflammatory responses. Variations in GC can influence vitamin D levels and metabolism, affecting bone health and potentially altering the risk of autoimmune diseases.

DOCK3 (Dedicator Of Cytokinesis 3) is a protein that plays a crucial role in remodeling the actin cytoskeleton and regulating cell movement. It is particularly important in the nervous system, where it supports neural development and synaptic function. Dysregulation of DOCK3 has been linked to neurodegenerative diseases.

DOCK3

ASIP (Agouti Signaling Protein): ASIP is a protein that influences pigmentation by regulating melanin production in the skin and hair. It works by blocking melanocortin receptors, which helps determine the type and distribution of melanin. Changes in ASIP expression affect pigmentation patterns, skin cancer risk, and metabolic regulation, highlighting its important roles in both coloration and metabolic health.

ASIP

CDH6 (Cadherin 6): CDH6 is a member of the cadherin family, which facilitates cell-to-cell adhesion in various tissues. It plays a crucial role in kidney and neural development and may contribute to cancer metastasis, highlighting cadherins’ essential function in preserving tissue integrity and structure.

CDH6

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

NADSYN1

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

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

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

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3) is a gene that encodes a crucial component of the eIF4F complex, which participates in the initiation of protein synthesis. It plays a key role in recruiting ribosomes to mRNA, allowing for efficient translation and protein production. Proper function of EIF4G3 is essential for cell growth and differentiation, while its dysregulation may contribute to diseases such as cancer, where protein synthesis is frequently altered.

EIF4G3

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

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

MAP2K5

RASGRF2 (RAS Protein-Specific Guanine Nucleotide-Releasing Factor 2): RASGRF2 is a gene that encodes a protein functioning as a guanine nucleotide exchange factor to activate RAS proteins, playing a crucial role in signal transduction. It participates in synaptic plasticity and memory formation in the brain. Dysregulation of RASGRF2 may affect cognitive functions and contribute to the development of certain types of cancer.

RASGRF2

NAV1 (Neuron Navigator 1): NAV1 is a member of the neuron navigator family involved in neuronal development and axonal guidance. It plays a crucial role in the migration and morphogenesis of neurons, directing the growth of axons toward their targets. NAV1’s function is vital for proper nervous system wiring, and disruptions in its activity can be linked to neurodevelopmental disorders and may affect nerve injury recovery.

NAV1

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.

NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2 is a transcription factor, also known as COUP-TFII, that plays a crucial role in the development and function of multiple organs, including the heart and vascular system. It regulates genes involved in angiogenesis (the formation of new blood vessels) and metabolic processes. Abnormal NR2F2 activity is linked to developmental disorders and certain cancers, where it can influence tumor growth and metastasis.

NR2F2

LRRN2 (Leucine Rich Repeat Neuronal 2): LRRN2 is part of the leucine-rich repeat protein family, which is involved in protein-protein interactions. LRRN2 plays key roles in cell adhesion, signaling, and neuronal development. It is expressed in various regions of the brain and is thought to contribute to the formation of neural circuits and synaptic differentiation. Its role in neural development and plasticity indicates a potential involvement in neurological disorders, although its specific functions are still under investigation.

LRRN2

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

DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene linked to pluripotency and involved in regulating the identity of embryonic stem cells. It helps maintain the undifferentiated state of these stem cells and is part of the molecular machinery that controls gene expression related to pluripotency.

DPPA2

MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that plays a crucial role in early embryonic development and organ formation. It is involved in processes such as limb development and hematopoiesis. MEIS1 has also been linked to restless legs syndrome (RLS) and is associated with various neurological and developmental disorders.

MEIS1

RORA (RAR-Related Orphan Receptor A): RORA is a nuclear receptor involved in regulating circadian rhythms, immune responses, and neurodevelopment. It controls the expression of genes related to these processes and has been linked to conditions such as depression, bipolar disorder, and autoimmune diseases. Its roles in both the central nervous system and immune system underscore its importance in maintaining health and preventing disease.

RORA

MDFIC (MyoD Family Inhibitor Domain Containing): MDFIC is a gene that encodes a protein involved in regulating gene expression, particularly in muscle development. It inhibits the MyoD family of transcription factors, which are essential for muscle differentiation, and its dysregulation may impact muscle growth and repair.

MDFIC

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

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

FCER1G (Fc Epsilon Receptor I Gamma): FCER1G is a key part of the high-affinity receptor for the Fc region of immunoglobulin E (IgE). It plays a crucial role in allergic reactions by helping activate mast cells and basophils. Variations in this gene can influence the severity and risk of allergic diseases and asthma.

FCER1G

SPATA7 (Spermatogenesis Associated 7): SPATA7 is a gene essential for the development of the eye and reproductive system. Mutations in SPATA7 are linked to retinal degenerative diseases such as Leber congenital amaurosis and retinitis pigmentosa, both of which cause progressive vision loss.

SPATA7

FRY (FRY Microtubule Binding Protein): FRY is a large protein involved in cell structure organization, particularly in relation to microtubules and cell polarity. It has roles in cellular processes such as migration and division, with implications for development and cancer. Research is focused on understanding FRY's function in normal cellular processes and its potential involvement in tumorigenesis and metastasis..

KLF6, or Krüppel-Like Factor 6, is a transcription factor that belongs to the Krüppel-like family of zinc finger proteins. It plays key roles in regulating gene expression, cell proliferation, differentiation, apoptosis, and various biological processes related to development, tissue maintenance, and disease. KLF6 functions primarily as a transcriptional regulator by binding to specific DNA sequences called Krüppel-like factor binding sites, thereby influencing the transcriptional activity of target genes. Depending on the cellular environment, KLF6 can act as either a transcriptional activator or repressor.

KLF6

GRIK2 (Glutamate Ionotropic Receptor Kainate Type Subunit 2): GRIK2 is a key subunit of kainate receptors, which are glutamate-gated ion channels involved in excitatory neurotransmission in the central nervous system. These receptors play an important role in synaptic transmission and plasticity, impacting learning, memory, and neural development. GRIK2 is essential for regulating neuronal excitability and has been linked to neurological disorders such as epilepsy, schizophrenia, and neurodegenerative diseases. Its role in modulating synaptic activity makes GRIK2 a potential target for therapies addressing conditions with disrupted glutamatergic signaling.

GRIK2

SLC26A5 (Solute Carrier Family 26 Member 5, also known as Prestin): SLC26A5, also known as Prestin, is a motor protein located in the outer hair cells of the cochlea. It plays a vital role in sound amplification and hearing sensitivity by acting as a voltage-sensitive motor protein. Changes in SLC26A5 can lead to hearing impairment, making it a significant focus for research into the molecular mechanisms of hearing and potential treatments for hearing loss.

SLC26A5

FANCA (Fanconi anemia group A protein): FANCA is a gene that encodes a protein essential for the Fanconi anemia (FA) DNA repair pathway, which helps maintain genomic stability. FANCA plays a role in activating the FA core complex to detect and repair DNA interstrand crosslinks (ICLs), harmful lesions that can obstruct DNA replication and transcription. By coordinating the assembly and recruitment of the FA core complex to damaged DNA, FANCA promotes proper DNA repair and prevents genomic instability.

FANCA

ST20 (Suppressor Of Tumorigenicity 20): ST20, also known as MINK1, is a protein belonging to the germinal center kinase (GCK) family. It plays a role in key cellular processes such as apoptosis, cytoskeletal reorganization, and cell migration, and is involved in signaling pathways that regulate cell survival and proliferation. Its function in tumor development and potential as a tumor suppressor remain active areas of research, with significant implications for cancer biology and treatment.

ST20

GLRX3 (Glutaredoxin 3): GLRX3 is a protein from the glutaredoxin family that helps maintain the cell’s redox balance by catalyzing the reversible oxidation and reduction of protein disulfide bonds. This function is crucial for protecting cells from oxidative stress, which can cause cellular damage and contribute to diseases such as cancer, cardiovascular disease, and neurodegenerative disorders. GLRX3 also affects key cellular signaling pathways that respond to redox changes, highlighting its essential role in cellular health and stress responses.

GLRX3

IL5RA (Interleukin 5 Receptor Alpha): IL5RA is a component of the interleukin 5 receptor, a cytokine involved in the growth and differentiation of eosinophils. It plays a crucial role in immune responses, particularly in allergic reactions and asthma, where eosinophils function as key effector cells. Targeting IL5RA is a therapeutic strategy for diseases characterized by eosinophilia, providing potential treatments for severe asthma and other eosinophil-related disorders.

IL5RA

RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6): RAPGEF6 is a protein that plays a crucial role in signal transduction pathways, regulating cell adhesion, migration, and growth. It acts as a guanine nucleotide exchange factor for Rap proteins, controlling their activity in response to extracellular signals. Dysregulation of RAPGEF6 has been associated with cancer progression and metastasis, highlighting its significance in cellular signaling and the regulation of cell dynamics.

RAPGEF6

CCK (Cholecystokinin): CCK is a gene that encodes a peptide hormone involved in digestion and appetite regulation. Cholecystokinin stimulates the release of digestive enzymes and causes the gallbladder to contract. It also acts as a satiety signal in the brain, helping to control food intake.

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

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

PRSS37 (Protease, Serine 37): PRSS37 is a gene that encodes a serine protease enzyme involved in reproductive physiology. While its exact function is still under investigation, it is believed to play a crucial role in sperm maturation and male fertility. Mutations in PRSS37 have been associated with male infertility, emphasizing its significance in reproductive health research.

PRSS37

CNTN5 (Contactin 5): CNTN5 is a member of the contactin family involved in nervous system development, particularly in forming neural connections. It plays a crucial role in neuronal development and function. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities.

CNTN5

GNGT2 (Guanine nucleotide-binding protein G(t) subunit gamma-T2) is a protein subunit of the transducin complex in photoreceptor cells of the retina. It plays a crucial role in phototransduction — the process that converts light signals into electrical impulses for the brain to interpret. By interacting with light-sensitive opsins, GNGT2 helps initiate the molecular changes essential for vision.

GNGT2

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

MLXIPL (MLX-Interacting Protein-Like): MLXIPL is a gene that encodes a protein involved in glucose metabolism and the regulation of gene expression. It plays a role in maintaining glucose balance and lipid metabolism. Mutations in MLXIPL may affect carbohydrate metabolism and contribute to related disorders.

MLXIPL

KIT (also known as CD117 antigen): KIT is a gene that encodes a protein functioning as a receptor tyrosine kinase, essential for cell growth, differentiation, and survival. It plays a crucial role in the development and function of various cell types, including melanocytes, germ cells, and hematopoietic cells. Understanding KIT signaling pathways may provide insights into targeted treatments for cancers and other diseases involving abnormal KIT activity.

MORC2 (Microrchidia 2): MORC2 is a gene that encodes a protein from the MORC family. These proteins are involved in epigenetic regulation, DNA damage repair, and transcriptional control. MORC2 has various functions that impact multiple cellular processes.

MORC2

TMEM72 (Transmembrane Protein 72): TMEM72 is a transmembrane protein whose functions have not yet been fully defined. Similar to other transmembrane proteins, TMEM72 is thought to be involved in cellular signaling, transport, and communication. Its precise roles in cellular processes and possible links to human diseases are currently being studied.

TMEM72

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

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

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

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

NRBF2 (Nuclear Receptor Binding Factor 2): NRBF2 is a protein involved in autophagy, a cellular process that degrades and recycles damaged or unnecessary components. NRBF2 plays a key role in regulating autophagy by helping form autophagosomes, the double-membraned vesicles that capture cellular cargo for degradation. It interacts with the ULK1 kinase complex—which includes ULK1, ATG13, FIP200, and ATG101—promoting its stability and activity, which is essential for initiating autophagy.

NRBF2

FUT5 (Fucosyltransferase 5): FUT5 is an enzyme involved in fucose metabolism, responsible for adding fucose to glycans. These glycans play essential roles in cell-cell interaction and communication. Changes in FUT5 activity can affect immune responses and have been studied in relation to cancer.

FUT5

SMOC1 (SPARC Related Modular Calcium Binding 1): SMOC1 is a member of the SPARC family of matricellular proteins. It plays a key role in tissue remodeling and angiogenesis by facilitating cell-matrix interactions. SMOC1 has been associated with ocular and limb development, and mutations in this gene are linked to Waardenburg anophthalmia syndrome and other developmental disorders.

SMOC1

CTDSPL2 (CTD Small Phosphatase Like 2) is a protein involved in regulating gene expression by modulating RNA polymerase II activity through dephosphorylation. This process impacts transcriptional and post-transcriptional control, influencing cell cycle progression and differentiation. While its exact functions are still under investigation, CTDSPL2 plays a key role in regulating cellular growth and may be associated with disease processes such as cancer.

CTDSPL2

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a crucial role in regulating various cellular processes—including cell survival, proliferation, metabolism, and growth. As a member of the AKT kinase family (which includes AKT1 and AKT2), AKT3 is primarily involved in managing cell survival and apoptosis. It activates in response to growth factors, cytokines, and other extracellular signals that encourage cell growth and survival. Once activated, AKT3 phosphorylates downstream targets such as BAD and caspase-9, which are key in regulating apoptosis.

AKT3

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT) is a protein subunit of mitochondrial ATP synthase, an enzyme complex essential for cellular energy production. It contributes to the synthesis of ATP—the primary energy currency of cells—and supports mitochondrial integrity, playing a vital role in maintaining overall cellular metabolism.

ATP5PD

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ERG

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