Harmonizome 3.0

trong>Btrong> trong>andtrong> T lymphocyte associated

This gene encodes a memtrong>btrong>er of the immunoglotrong>btrong>ulin superfamily. The encoded protein contains a single immunoglotrong>btrong>ulin (Ig) domain trong>andtrong> is a receptor that relays inhitrong>btrong>itory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have trong>btrong>een associated with an increased risk of rheumatoid arthritis. [provided trong>btrong>y RefSeq, Aug 2011]

endothelium trong>andtrong> lymphocyte associated ASCH domain 2

Located in mitochondrion. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

endothelium trong>andtrong> lymphocyte associated ASCH domain 1

Involved in regulation of interleukin-6 production. Located in mitochondrion. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral memtrong>btrong>rane proteins composed of an alpha chain trong>andtrong> a trong>btrong>eta chain. This I-domain containing alpha integrin comtrong>btrong>ines with the trong>btrong>eta 2 chain (ITGtrong>Btrong>2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligtrong>andtrong>s, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), trong>andtrong> also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Jul 2008]

integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)

Integrins are heterodimeric integral memtrong>btrong>rane proteins composed of an alpha chain trong>andtrong> a trong>btrong>eta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy trong>andtrong> light chains. In comtrong>btrong>ination with the trong>btrong>eta 7 integrin, this protein forms the E-cadherin trong>btrong>inding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), trong>andtrong> in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided trong>btrong>y RefSeq, Jul 2008]

lymphocyte antigen 6 complex, locus G6C

LY6G6C trong>btrong>elongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatitrong>btrong>ility complex (MHC) class III region on chromosome 6. Memtrong>btrong>ers of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface trong>btrong>y a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [Putrong>btrong>Med 12079290]).[supplied trong>btrong>y OMIM, Mar 2008]

lymphocyte antigen 6 complex, locus G6E (pseudogene)

LY6G6E trong>btrong>elongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatitrong>btrong>ility complex (MHC) class III region on chromosome 6. Memtrong>btrong>ers of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface trong>btrong>y a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [Putrong>btrong>Med 12079290]).[supplied trong>btrong>y OMIM, Mar 2008]

Lymphocyte cytosolic protein, molecular weight 20kD

lymphocyte antigen 6 complex, locus G6D

LY6G6D trong>btrong>elongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatitrong>btrong>ility complex (MHC) class III region on chromosome 6. Memtrong>btrong>ers of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface trong>btrong>y a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [Putrong>btrong>Med 12079290]).[supplied trong>btrong>y OMIM, Apr 2009]

lymphocyte antigen 9

LY9 trong>btrong>elongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) trong>andtrong> interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [Putrong>btrong>Med 16365421]).[supplied trong>btrong>y OMIM, Mar 2008]

lymphocyte antigen 96

This gene encodes a protein which associates with toll-like receptor 4 on the cell surface trong>andtrong> confers responsiveness to lipopolysaccyaride (LPS), thus providing a link trong>btrong>etween the receptor trong>andtrong> LPS signaling. Studies of the mouse ortholog suggest that this gene may trong>btrong>e involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided trong>btrong>y RefSeq, Sep 2010]

lymphocyte-specific protein 1 pseudogene 1

lymphocyte-specific protein 1 pseudogene 2

lymphocyte antigen 6A-2/6E-1-like

Predicted to trong>btrong>e located in side of memtrong>btrong>rane. Predicted to trong>btrong>e active in plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cytotoxic T-lymphocyte-associated protein 4

This gene is a memtrong>btrong>er of the immunoglotrong>btrong>ulin superfamily trong>andtrong> encodes a protein which transmits an inhitrong>btrong>itory signal to T cells. The protein contains a V domain, a transmemtrong>btrong>rane domain, trong>andtrong> a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have trong>btrong>een characterized. The memtrong>btrong>rane-trong>btrong>ound isoform functions as a homodimer interconnected trong>btrong>y a disulfide trong>btrong>ond, while the solutrong>btrong>le isoform functions as a monomer. Mutations in this gene have trong>btrong>een associated with insulin-dependent diatrong>btrong>etes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated ortrong>btrong>itopathy, trong>andtrong> other autoimmune diseases. [provided trong>btrong>y RefSeq, Jul 2008]

lymphocyte antigen 75

Predicted to enatrong>btrong>le signaling receptor activity. Predicted to trong>btrong>e involved in immune response trong>andtrong> inflammatory response. Located in extracellular exosome. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)

This gene encodes an adapter protein that acts as a sutrong>btrong>strate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor trong>btrong>ound protein 2, trong>andtrong> is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development trong>andtrong> activation. Mice lacking this gene show sutrong>btrong>cutaneous trong>andtrong> intraperitoneal fetal hemorrhaging, dysfunctional platelets trong>andtrong> impaired viatrong>btrong>ility. [provided trong>btrong>y RefSeq, Nov 2016]

lymphocyte cytosolic protein 1 (L-plastin)

Plastins are a family of actin-trong>btrong>inding proteins that are conserved throughout eukaryote evolution trong>andtrong> expressed in most tissues of higher eukaryotes. In humans, two utrong>btrong>iquitous plastin isoforms (L trong>andtrong> T) have trong>btrong>een identified. Plastin 1 (otherwise known as Fimtrong>btrong>rin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has trong>btrong>een found in all other normal cells of solid tissues that have replicative potential (fitrong>btrong>rotrong>btrong>lasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has trong>btrong>een found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided trong>btrong>y RefSeq, Jul 2008]

lymphocyte antigen 6 complex, locus G5C

LY6G5C trong>btrong>elongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatitrong>btrong>ility complex (MHC) class III region on chromosome 6. Memtrong>btrong>ers of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface trong>btrong>y a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [Putrong>btrong>Med 12079290]).[supplied trong>btrong>y OMIM, Mar 2008]

lymphocyte antigen 6 complex, locus G5trong>Btrong>

LY6G5trong>Btrong> trong>btrong>elongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatitrong>btrong>ility complex (MHC) class III region on chromosome 6. Memtrong>btrong>ers of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface trong>btrong>y a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [Putrong>btrong>Med 12079290]).[supplied trong>btrong>y OMIM, Mar 2008]

lymphocyte-activation gene 3

Lymphocyte-activation protein 3 trong>btrong>elongs to Ig superfamily trong>andtrong> contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, trong>andtrong> chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided trong>btrong>y RefSeq, Jul 2008]

pre-trong>Btrong> lymphocyte 3

The protein encoded trong>btrong>y this gene is the human ortholog of the mouse Vpretrong>Btrong>3 (8HS20) protein, is thought to trong>btrong>e involved in trong>Btrong>-cell maturation, trong>andtrong> may play a role in assemtrong>btrong>ly of the pre-trong>Btrong> cell receptor (pre-trong>Btrong>CR). While the role of this protein in trong>Btrong>-cell development has not yet trong>btrong>een elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has trong>btrong>een shown to associate with memtrong>btrong>rane mu heavy chains early in the course of pre-trong>Btrong> cell receptor trong>btrong>iosynthesis. Expression of this gene has trong>btrong>een otrong>btrong>served in some lymphomas. [provided trong>btrong>y RefSeq, Apr 2015]

lymphocyte antigen 6 complex, locus G6F

The human G6f protein is a type I transmemtrong>btrong>rane protein trong>btrong>elonging to the immunoglotrong>btrong>in (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system trong>andtrong> cellular recognition (de Vet et al., 2003 [Putrong>btrong>Med 12852788]).[supplied trong>btrong>y OMIM, Mar 2008]

pre-trong>Btrong> lymphocyte 1

The protein encoded trong>btrong>y this gene trong>btrong>elongs to the immunoglotrong>btrong>ulin superfamily trong>andtrong> is expressed selectively at the early stages of trong>Btrong> cell development, namely, in protrong>Btrong> trong>andtrong> early pretrong>Btrong> cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-trong>Btrong> cells. The complex is thought to regulate Ig gene rearrangements in the early steps of trong>Btrong>-cell differentiation. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Jan 2015]

lymphocyte transmemtrong>btrong>rane adaptor 1

Enatrong>btrong>les SH2 domain trong>btrong>inding activity trong>andtrong> protein kinase trong>btrong>inding activity. Involved in several processes, including trong>Btrong> cell activation; negative regulation of MAPK cascade; trong>andtrong> negative regulation of T cell activation. Located in Golgi apparatus; cytosol; trong>andtrong> plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte-specific protein 1 pseudogene

lymphocyte antigen 86

Acts upstream of or within positive regulation of lipopolysaccharide-mediated signaling pathway. Predicted to trong>btrong>e located in extracellular region. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte-specific protein 1 pseudogene 3

lymphocyte-specific protein 1 pseudogene

granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)

Cytolytic T lymphocytes (CTL) trong>andtrong> natural killer (NK) cells share the remarkatrong>btrong>le atrong>btrong>ility to recognize, trong>btrong>ind, trong>andtrong> lyse specific target cells. They are thought to protect their host trong>btrong>y lysing cells trong>btrong>earing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection trong>btrong>y intracellular pathogens. The protein descritrong>btrong>ed here is a T cell- trong>andtrong> natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells trong>btrong>y cytotoxic T lymphocytes trong>andtrong> natural killer cells. [provided trong>btrong>y RefSeq, Jul 2008]

granzyme trong>Btrong> (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)

This gene encodes a memtrong>btrong>er of the granzyme sutrong>btrong>family of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted trong>btrong>y natural killer (NK) cells trong>andtrong> cytotoxic T lymphocytes (CTLs) trong>andtrong> proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines trong>andtrong> degrades extracellular matrix proteins, trong>andtrong> these roles are implicated in chronic inflammation trong>andtrong> wound healing. Expression of this gene may trong>btrong>e elevated in human patients with cardiac fitrong>btrong>rosis. [provided trong>btrong>y RefSeq, Sep 2016]

granzyme M (lymphocyte met-ase 1)

Human natural killer (NK) cells trong>andtrong> activated lymphocytes express trong>andtrong> store a distinct sutrong>btrong>set of neutral serine proteases together with proteoglycans trong>andtrong> other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes trong>andtrong> include 4 distinct gene products: granzyme A, granzyme trong>Btrong>, granzyme H, trong>andtrong> the protein encoded trong>btrong>y this gene, granzyme M. Two transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Apr 2012]

lymphocyte-specific protein 1

This gene encodes an intracellular F-actin trong>btrong>inding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, trong>andtrong> endothelium trong>andtrong> may regulate neutrophil motility, adhesion to fitrong>btrong>rinogen matrix proteins, trong>andtrong> transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided trong>btrong>y RefSeq, Jul 2008]

lymphocyte antigen 6 complex, locus E

This gene trong>btrong>elongs to the human Ly6 gene family trong>andtrong> encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis trong>andtrong> immunological regulation. The protein is also involved in modulation of viral infection trong>btrong>y coronaviruses, SARS-CoV, MERS-CoV trong>andtrong> SARS-CoV-2. [provided trong>btrong>y RefSeq, Aug 2021]

lymphocyte antigen 6 complex, locus D

Predicted to trong>btrong>e involved in lymphocyte differentiation. Predicted to trong>btrong>e located in extracellular region trong>andtrong> plasma memtrong>btrong>rane. Predicted to trong>btrong>e active in cell surface. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte antigen 6 complex, locus K

Predicted to trong>btrong>e involved in trong>btrong>inding activity of sperm to zona pellucida. Predicted to act upstream of or within flagellated sperm motility. Predicted to trong>btrong>e located in cell surface trong>andtrong> plasma memtrong>btrong>rane. Predicted to trong>btrong>e active in acrosomal vesicle. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte antigen 6 complex, locus H

Predicted to enatrong>btrong>le acetylcholine receptor trong>btrong>inding activity trong>andtrong> acetylcholine receptor inhitrong>btrong>itor activity. Predicted to trong>btrong>e involved in acetylcholine receptor signaling pathway. Predicted to trong>btrong>e located in extracellular region. Predicted to trong>btrong>e active in plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte antigen 6 family memtrong>btrong>er L

Predicted to trong>btrong>e located in side of memtrong>btrong>rane. Predicted to trong>btrong>e active in plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

lymphocyte expansion molecule

lymphocyte antigen 6 family memtrong>btrong>er S

Predicted to act upstream of or within response to trong>btrong>acterium. Predicted to trong>btrong>e located in external side of plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

mental retardation, epileptic seizures, hypogonadism trong>andtrong> -genitalism, microcephaly trong>andtrong> otrong>btrong>esity syndrome

Microcephaly, mental retardation, trong>andtrong> distinctive facies, with cardiac trong>andtrong> genitourinary malformations

sema domain, seven thromtrong>btrong>ospondin repeats (type 1 trong>andtrong> type 1-like), transmemtrong>btrong>rane domain (TM) trong>andtrong> short cytoplasmic domain, (semaphorin) 5trong>Btrong>

This gene encodes a memtrong>btrong>er of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins trong>btrong>ind to plexin, trong>andtrong> five thromtrong>btrong>ospondin type 1 repeats in the C-terminal region of the protein. The protein product may trong>btrong>e cleaved trong>andtrong> exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Jan 2012]

sema domain, seven thromtrong>btrong>ospondin repeats (type 1 trong>andtrong> type 1-like), transmemtrong>btrong>rane domain (TM) trong>andtrong> short cytoplasmic domain, (semaphorin) 5A

This gene trong>btrong>elongs to the semaphorin gene family that encodes memtrong>btrong>rane proteins containing a semaphorin domain trong>andtrong> several thromtrong>btrong>ospondin type-1 repeats. Memtrong>btrong>ers of this family are involved in axonal guidance during neural development. This gene has trong>btrong>een implicated as an autism susceptitrong>btrong>ility gene.[provided trong>btrong>y RefSeq, Jan 2010]

sema domain, seven thromtrong>btrong>ospondin repeats (type 1 trong>andtrong> type 1-like), transmemtrong>btrong>rane domain (TM) trong>andtrong> short cytoplasmic domain, (semaphorin) 5A pseudogene

RAtrong>Btrong>11 trong>btrong>inding trong>andtrong> LisH domain, coiled-coil trong>andtrong> HEAT repeat containing

Involved in intracellular cholesterol transport. Located in recycling endosome trong>andtrong> trans-Golgi network. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

inflammation trong>andtrong> lipid regulator with Utrong>Btrong>A-like trong>andtrong> Ntrong>Btrong>R1-like domains

This gene encodes a protein with N-terminal utrong>btrong>iquitin-associated (Utrong>Btrong>A)-like trong>andtrong> central neightrong>btrong>or of trong>Btrong>RCA1 gene 1 (Ntrong>Btrong>R1)-like domains. The protein acts an inhitrong>btrong>itor of antiviral trong>andtrong> proinflammatory cytokine transcription trong>andtrong> as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided trong>btrong>y RefSeq, Jul 2021]

ceruloplasmin trong>andtrong> hephaestin-like 1 pseudogene

Craniosynostosis, anal anomalies, trong>andtrong> porokeratosis syndrome

cytotoxic trong>andtrong> regulatory T cell molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive trong>andtrong> CD8 (see CD8A; MIM 186910)-positive T cells trong>andtrong> encodes a type I transmemtrong>btrong>rane protein with V trong>andtrong> C1-like Ig domains (Yeh et al., 2008 [Putrong>btrong>Med 18329370]).[supplied trong>btrong>y OMIM, Fetrong>btrong> 2009]

DDtrong>Btrong>1 trong>andtrong> CUL4 associated factor 6 pseudogene

optic atrophy 3 (autosomal recessive, with chorea trong>andtrong> spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner memtrong>btrong>rane. Mutations in this gene have trong>btrong>een shown to result in 3-methylglutaconic aciduria type III trong>andtrong> autosomal dominant optic atrophy trong>andtrong> cataract. Multiple transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Oct 2009]

alpha- trong>andtrong> gamma-adaptin trong>btrong>inding protein

The protein encoded trong>btrong>y this gene interacts with the gamma-adaptin trong>andtrong> alpha-adaptin sutrong>btrong>units of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Dec 2012]

phosphatase trong>andtrong> actin regulator 4

This gene encodes a memtrong>btrong>er of the phosphatase trong>andtrong> actin regulator (PHACTR) family. Other PHACTR family memtrong>btrong>ers have trong>btrong>een shown to inhitrong>btrong>it protein phosphatase 1 (PP1) activity, trong>andtrong> the homolog of this gene in the mouse has trong>btrong>een shown to interact with actin trong>andtrong> PP1. Multiple transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Jul 2008]

phosphatase trong>andtrong> actin regulator 1

The protein encoded trong>btrong>y this gene is a memtrong>btrong>er of the phosphatase trong>andtrong> actin regulator family of proteins. This family memtrong>btrong>er can trong>btrong>ind actin trong>andtrong> regulate the reorganization of the actin cytoskeleton. It plays a role in tutrong>btrong>ule formation trong>andtrong> in endothelial cell survival. Polymorphisms in this gene are associated with susceptitrong>btrong>ility to myocardial infarction, coronary artery disease trong>andtrong> cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided trong>btrong>y RefSeq, Apr 2016]

phosphatase trong>andtrong> actin regulator 3

This gene encodes a memtrong>btrong>er of the phosphatase trong>andtrong> actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, trong>andtrong> trong>btrong>inds to actin trong>andtrong> the catalytic sutrong>btrong>unit of protein phosphatase-1, suggesting that it functions as a regulatory sutrong>btrong>unit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Jul 2013]

phosphatase trong>andtrong> actin regulator 2

Predicted to enatrong>btrong>le actin trong>btrong>inding activity. Predicted to trong>btrong>e involved in actin cytoskeleton organization. Predicted to trong>btrong>e located in plasma memtrong>btrong>rane trong>andtrong> platelet alpha granule memtrong>btrong>rane. Implicated in Parkinson's disease trong>andtrong> multiple sclerosis. trong>Btrong>iomarker of Alzheimer's disease. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ERGIC trong>andtrong> golgi 2

ERGIC2, or PTX1, is a utrong>btrong>iquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [Putrong>btrong>Med 11445006]).[supplied trong>btrong>y OMIM, Aug 2008]

ERGIC trong>andtrong> golgi 3

Involved in endoplasmic reticulum to Golgi vesicle-mediated transport trong>andtrong> positive regulation of intracellular protein transport. Located in memtrong>btrong>rane. Part of retrograde transporter complex, Golgi to ER. trong>Btrong>iomarker of lung adenocarcinoma. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

F-trong>btrong>ox trong>andtrong> leucine-rich repeat protein 14

Memtrong>btrong>ers of the F-trong>btrong>ox protein family, such as Ftrong>Btrong>XL14, are characterized trong>btrong>y an approximately 40-amino acid F-trong>btrong>ox motif. SCF complexes, formed trong>btrong>y SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), trong>andtrong> F-trong>btrong>ox proteins, act as protein-utrong>btrong>iquitin ligases. F-trong>btrong>ox proteins interact with SKP1 through the F trong>btrong>ox, trong>andtrong> they interact with utrong>btrong>iquitination targets through other protein interaction domains (Jin et al., 2004 [Putrong>btrong>Med 15520277]).[supplied trong>btrong>y OMIM, Mar 2008]

F-trong>btrong>ox trong>andtrong> leucine-rich repeat protein 19

This gene encodes a memtrong>btrong>er of the Skp1-Cullin-F-trong>btrong>ox family of E3 utrong>btrong>iquitin ligases. The encoded protein is reported to trong>btrong>ind to the transmemtrong>btrong>rane receptor interleukin 1 receptor-like 1 trong>andtrong> regulate its utrong>btrong>iquitination trong>andtrong> degradation. This protein has trong>btrong>een linked to the regulation of pulmonary inflammation trong>andtrong> psoriasis. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Aug 2013]

marginal zone trong>Btrong> trong>andtrong> trong>Btrong>1 cell-specific protein

Involved in positive regulation of cell population proliferation. Located in cytoplasm trong>andtrong> extracellular region. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

putative V-set trong>andtrong> immunoglotrong>btrong>ulin domain-containing-like protein IGHV4OR15-8

hematological trong>andtrong> neurological expressed 1

Located in cytosol; intercellular trong>btrong>ridge; trong>andtrong> microtutrong>btrong>ule cytoskeleton. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cell cycle exit trong>andtrong> neuronal differentiation protein 1-like

deleted in lung trong>andtrong> esophageal cancer 1

The cytogenetic location of this gene is 3p21.3, trong>andtrong> it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has trong>btrong>een otrong>btrong>served in several human cancers including lung, esophageal, renal tumors, trong>andtrong> head trong>andtrong> neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of atrong>btrong>errant promoter methylation. Several alternatively spliced transcripts have trong>btrong>een otrong>btrong>served that contain disrupted coding regions trong>andtrong> likely encode nonfunctional proteins.[provided trong>btrong>y RefSeq, Mar 2016]

NACC family memtrong>btrong>er 2, trong>Btrong>EN trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing

Enatrong>btrong>les several functions, including DNA-trong>btrong>inding transcription repressor activity, RNA polymerase II-specific; histone deacetylase trong>btrong>inding activity; trong>andtrong> protein homodimerization activity. Involved in several processes, including negative regulation of transcription trong>btrong>y RNA polymerase II; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; trong>andtrong> protein homooligomerization. Located in chromatin; mitochondrion; trong>andtrong> nucleolus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

nucleus accumtrong>btrong>ens associated 1, trong>Btrong>EN trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing

This gene encodes a memtrong>btrong>er of the trong>Btrong>Ttrong>Btrong>/POZ protein family. trong>Btrong>Ttrong>Btrong>/POZ proteins are involved in several cellular processes including proliferation, apoptosis trong>andtrong> transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal trong>andtrong> pluripotency maintenance. The encoded protein also suppresses transcription of the ctrong>andtrong>idate tumor suppressor Gadd45GIP1, trong>andtrong> expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided trong>btrong>y RefSeq, Fetrong>btrong> 2012]

somatomedin trong>Btrong> trong>andtrong> thromtrong>btrong>ospondin, type 1 domain containing

Predicted to trong>btrong>e an extracellular matrix structural constituent. Located in collagen-containing extracellular matrix. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

WASH trong>andtrong> IL9R antisense RNA 1

WASH trong>andtrong> IL9R antisense RNA 2

ankyrin repeat trong>andtrong> FYVE domain containing 1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure trong>andtrong> a trong>Btrong>Ttrong>Btrong>/POZ domain at its N-terminus, ankyrin repeats in the middle portion, trong>andtrong> a FYVE-finger motif at its C-terminus. This protein trong>btrong>elongs to a sutrong>btrong>group of doutrong>btrong>le zinc finger proteins which may trong>btrong>e involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided trong>btrong>y RefSeq, Apr 2012]

otrong>btrong>scurin, cytoskeletal calmodulin trong>andtrong> titin-interacting RhoGEF

The otrong>btrong>scurin gene spans more than 150 ktrong>btrong>, contains over 80 exons trong>andtrong> encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fitrong>btrong>ronectin domains, 1 calcium/calmodulin-trong>btrong>inding domain, 1 RhoGEF domain with an associated PH domain, trong>andtrong> 2 serine-threonine kinase domains. This protein trong>btrong>elongs to the family of giant sacromeric signaling proteins that includes titin trong>andtrong> netrong>btrong>ulin, trong>andtrong> may have a role in the organization of myofitrong>btrong>rils during assemtrong>btrong>ly trong>andtrong> may mediate interactions trong>btrong>etween the sarcoplasmic reticulum trong>andtrong> myofitrong>btrong>rils. Alternatively spliced transcript variants encoding different isoforms have trong>btrong>een identified. [provided trong>btrong>y RefSeq, Jul 2008]

sortrong>btrong>in trong>andtrong> SH3 domain containing 1

This gene encodes a Ctrong>Btrong>L-associated protein which functions in the signaling trong>andtrong> stimulation of insulin. Mutations in this gene may trong>btrong>e associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Mar 2014]

sortrong>btrong>in trong>andtrong> SH3 domain containing 3

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's atrong>btrong>ility to trong>btrong>ind other cytoplasmic molecules trong>andtrong> contritrong>btrong>ute to cystoskeletal organization, cell adhesion trong>andtrong> migration, signaling, trong>andtrong> gene expression. Multiple transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Nov 2011]

sortrong>btrong>in trong>andtrong> SH3 domain containing 2

Arg trong>andtrong> c-Atrong>btrong>l represent the mammalian memtrong>btrong>ers of the Atrong>btrong>elson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Atrong>btrong>l trong>btrong>inding proteins via the SH3 domains present in the cartrong>btrong>oxy end of the latter group of proteins. This gene encodes the sortrong>btrong>in trong>andtrong> SH3 domain containing 2 protein. It has three C-terminal SH3 domains trong>andtrong> an N-terminal sortrong>btrong>in homology (SoHo) domain that interacts with lipid raft proteins. The sutrong>btrong>cellular localization of this protein in epithelial trong>andtrong> cardiac muscle cells suggests that it functions as an adapter protein to assemtrong>btrong>le signaling complexes in stress fitrong>btrong>ers, trong>andtrong> that it is a potential link trong>btrong>etween Atrong>btrong>l family kinases trong>andtrong> the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided trong>btrong>y RefSeq, Jul 2008]

zinc finger trong>andtrong> SCAN domain containing 5C, pseudogene

Predicted to enatrong>btrong>le DNA-trong>btrong>inding transcription factor activity, RNA polymerase II-specific trong>andtrong> RNA polymerase II cis-regulatory region sequence-specific DNA trong>btrong>inding activity. Predicted to trong>btrong>e involved in regulation of transcription trong>btrong>y RNA polymerase II. Predicted to trong>btrong>e located in nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cell cycle exit trong>andtrong> neuronal differentiation 1

The protein encoded trong>btrong>y this gene is a neuron-specific protein. The similar protein in pig enhances neurotrong>btrong>lastoma cell differentiation in vitro trong>andtrong> may trong>btrong>e involved in neuronal differentiation in vivo. Multiple pseudogenes have trong>btrong>een reported for this gene. [provided trong>btrong>y RefSeq, Jul 2008]

zinc finger trong>andtrong> trong>Btrong>Ttrong>Btrong> domain containing 7A

Enatrong>btrong>les several functions, including SMAD trong>btrong>inding activity; nuclear trong>andtrong>rogen receptor trong>btrong>inding activity; trong>andtrong> transcription corepressor trong>btrong>inding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; trong>andtrong> regulation of nucleotrong>btrong>ase-containing compound metatrong>btrong>olic process. Located in cytoplasm trong>andtrong> nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

zinc finger trong>andtrong> trong>Btrong>Ttrong>Btrong> domain containing 7C

Predicted to enatrong>btrong>le DNA-trong>btrong>inding transcription factor activity, RNA polymerase II-specific trong>andtrong> RNA polymerase II cis-regulatory region sequence-specific DNA trong>btrong>inding activity. Involved in negative regulation of cell population proliferation. Predicted to trong>btrong>e located in nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

zinc finger trong>andtrong> trong>Btrong>Ttrong>Btrong> domain containing 7trong>Btrong>

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary trong>andtrong> sufficient for commitment of CD4 lineage, while its atrong>btrong>sence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Jan 2012]

survival of motor trong>andtrong> autonomic neurons 1

ankyrin repeat trong>andtrong> sterile alpha motif domain containing 1trong>Btrong>

This gene encodes a multi-domain protein that is predominantly expressed in trong>btrong>rain trong>andtrong> testis. This protein interacts with amyloid trong>btrong>eta protein precursor (Atrong>btrong>etaPP) trong>andtrong> may have a role in normal trong>btrong>rain development, trong>andtrong> in the pathogenesis of Alzheimer's disease. Expression of this gene has trong>btrong>een shown to trong>btrong>e elevated in patients with pre-trong>Btrong> cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different sutrong>btrong>cellular localization, PMID:15004329) have trong>btrong>een descritrong>btrong>ed for this gene. [provided trong>btrong>y RefSeq, Aug 2011]

ankyrin repeat trong>andtrong> sterile alpha motif domain containing 1A

Predicted to enatrong>btrong>le ephrin receptor trong>btrong>inding activity. Predicted to trong>btrong>e involved in ephrin receptor signaling pathway; neuron remodeling; trong>andtrong> sutrong>btrong>strate-dependent cell migration. Predicted to act upstream of or within negative regulation of utrong>btrong>iquitin-dependent protein catatrong>btrong>olic process trong>andtrong> regulation of ephrin receptor signaling pathway. Located in cytosol trong>andtrong> nucleoplasm. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

oligodendrocytic myelin paranodal trong>andtrong> inner loop protein

Predicted to trong>btrong>e involved in regulation of oligodendrocyte differentiation. Located in Golgi apparatus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

SH3 trong>andtrong> multiple ankyrin repeat domains 3

This gene is a memtrong>btrong>er of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, trong>andtrong> other memtrong>btrong>rane proteins to the actin cytoskeleton trong>andtrong> G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation trong>andtrong> dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized trong>btrong>y impairments in social interaction trong>andtrong> communication, trong>andtrong> restricted trong>btrong>ehavioral patterns trong>andtrong> interests. Mutations in this gene also cause schizophrenia type 15, trong>andtrong> are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have trong>btrong>een descritrong>btrong>ed for this gene trong>btrong>ut they have not yet trong>btrong>een experimentally verified. [provided trong>btrong>y RefSeq, Mar 2012]

SH3 trong>andtrong> multiple ankyrin repeat domains 2

This gene encodes a protein that is a memtrong>btrong>er of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, trong>andtrong> an SH3 domain. This particular family memtrong>btrong>er contains a PDZ domain, a consensus sequence for cortactin SH3 domain-trong>btrong>inding peptides trong>andtrong> a sterile alpha motif. The alternative splicing demonstrated in Shank genes has trong>btrong>een suggested as a mechanism for regulating the molecular structure of Shank trong>andtrong> the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult trong>andtrong> developing trong>btrong>rain. Alterations in the encoded protein may trong>btrong>e associated with susceptitrong>btrong>ility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Fetrong>btrong> 2014]

SH3 trong>andtrong> multiple ankyrin repeat domains 1

This gene encodes a memtrong>btrong>er of the SHANK (SH3 domain trong>andtrong> ankyrin repeat containing) family of proteins. Memtrong>btrong>ers of this family act as scaffold proteins that are required for the development trong>andtrong> function of neuronal synapses. Deletions in this gene may trong>btrong>e associated with autism spectrum disorder in males. [provided trong>btrong>y RefSeq, Apr 2016]

SAM domain, SH3 domain trong>andtrong> nuclear localization signals 1

SAMSN1 is a memtrong>btrong>er of a novel gene family of putative adaptors trong>andtrong> scaffold proteins containing SH3 trong>andtrong> SAM (sterile alpha motif) domains (Claudio et al., 2001 [Putrong>btrong>Med 11536050]).[supplied trong>btrong>y OMIM, Mar 2008]

zinc finger trong>andtrong> trong>Btrong>Ttrong>Btrong> domain containing 14 pseudogene

spindle trong>andtrong> kinetochore associated complex sutrong>btrong>unit 1

Enatrong>btrong>les microtutrong>btrong>ule trong>btrong>inding activity. Involved in attachment of mitotic spindle microtutrong>btrong>ules to kinetochore; negative regulation of mitotic spindle assemtrong>btrong>ly checkpoint signaling; trong>andtrong> positive regulation of microtutrong>btrong>ule polymerization. Located in intercellular trong>btrong>ridge; kinetochore; trong>andtrong> microtutrong>btrong>ule cytoskeleton. Part of SKA complex. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

spindle trong>andtrong> kinetochore associated complex sutrong>btrong>unit 3

This gene encodes a component of the spindle trong>andtrong> kinetochore-associated protein complex that regulates microtutrong>btrong>ule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore trong>andtrong> may trong>btrong>e required for normal chromosome segregation trong>andtrong> cell division. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Oct 2009]

spindle trong>andtrong> kinetochore associated complex sutrong>btrong>unit 2

Enatrong>btrong>les microtutrong>btrong>ule trong>btrong>inding activity. Involved in attachment of mitotic spindle microtutrong>btrong>ules to kinetochore trong>andtrong> regulation of microtutrong>btrong>ule polymerization or depolymerization. Located in spindle microtutrong>btrong>ule. Part of SKA complex. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

hematological trong>andtrong> neurological expressed 1-like

Involved in endocytosis involved in viral entry into host cell trong>andtrong> regulation of calcium-mediated signaling. Located in cytosol; nucleus; trong>andtrong> plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cytidine trong>andtrong> dCMP deaminase domain containing 1

Enatrong>btrong>les several functions, including cytidine deaminase activity; importin-alpha family protein trong>btrong>inding activity; trong>andtrong> protein homodimerization activity. Involved in DNA cytosine deamination trong>andtrong> cytidine deamination. Located in cytoplasm trong>andtrong> nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cysteine trong>andtrong> glycine-rich protein 2 pseudogene

nuclear casein kinase trong>andtrong> cyclin-dependent kinase sutrong>btrong>strate 1

This gene encodes a nuclear protein that is highly conserved in vertetrong>btrong>rates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II trong>andtrong> cyclin-dependent kinases, two putative nuclear localization signals, trong>andtrong> a trong>btrong>asic DNA-trong>btrong>inding domain. It is phosphorylated in vivo trong>btrong>y Cdk1 during mitosis of the cell cycle. [provided trong>btrong>y RefSeq, Aug 2010]

Ras trong>andtrong> Ratrong>btrong> interactor 1

Predicted to enatrong>btrong>le guanyl-nucleotide exchange factor activity trong>andtrong> small GTPase trong>btrong>inding activity. Predicted to trong>btrong>e involved in signal transduction. Predicted to act upstream of or within associative learning; memory; trong>andtrong> negative regulation of synaptic plasticity. Located in cytoplasm trong>andtrong> plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

Ras trong>andtrong> Ratrong>btrong> interactor 3

Summary: This protein encoded trong>btrong>y this gene is a memtrong>btrong>er of the RIN family of Ras interaction-interference proteins, which are trong>btrong>inding partners to the RAtrong>Btrong>5 small GTPases. The protein functions as a guanine nucleotide exchange for RAtrong>Btrong>5trong>Btrong> trong>andtrong> RAtrong>Btrong>31. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Fetrong>btrong> 2016]

Ras trong>andtrong> Ratrong>btrong> interactor 2

The RAtrong>Btrong>5 protein is a small GTPase involved in memtrong>btrong>rane trafficking in the early endocytic pathway. The protein encoded trong>btrong>y this gene trong>btrong>inds the GTP-trong>btrong>ound form of the RAtrong>Btrong>5 protein preferentially over the GDP-trong>btrong>ound form, trong>andtrong> functions as a guanine nucleotide exchange factor for RAtrong>Btrong>5. The encoded protein is found primarily as a tetramer in the cytoplasm trong>andtrong> does not trong>btrong>ind other memtrong>btrong>ers of the RAtrong>Btrong> family. Mutations in this gene cause macrocephaly alopecia cutis laxa trong>andtrong> scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Jun 2011]

C3 trong>andtrong> PZP-like, alpha-2-macroglotrong>btrong>ulin domain containing 8 pseudogene

coxsackievirus trong>andtrong> adenovirus receptor-like

transmemtrong>btrong>rane trong>andtrong> utrong>btrong>iquitin-like domain containing 1

Involved in ERAD pathway. Predicted to trong>btrong>e located in several cellular components, including centrosome; postsynaptic memtrong>btrong>rane; trong>andtrong> recycling endosome. Predicted to trong>btrong>e active in postsynaptic recycling endosome memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

transmemtrong>btrong>rane trong>andtrong> utrong>btrong>iquitin-like domain containing 2

Predicted to trong>btrong>e involved in ERAD pathway. Predicted to trong>btrong>e located in memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

RNA guanylyltransferase trong>andtrong> 5'-phosphatase

Enatrong>btrong>les inorganic triphosphate phosphatase activity trong>andtrong> mRNA guanylyltransferase activity. Involved in 7-methylguanosine mRNA capping. Predicted to trong>btrong>e located in nucleoplasm. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

pancreatic trong>andtrong> duodenal homeotrong>btrong>ox 1

The protein encoded trong>btrong>y this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, trong>andtrong> glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas trong>andtrong> plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diatrong>btrong>etes mellitus (IDDM), as well as maturity onset diatrong>btrong>etes of the young type 4 (MODY4). [provided trong>btrong>y RefSeq, Aug 2017]

progestin trong>andtrong> adipoQ receptor family memtrong>btrong>er IX

Predicted to enatrong>btrong>le signaling receptor activity. Predicted to trong>btrong>e located in plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

EF-htrong>andtrong> trong>andtrong> coiled-coil domain containing 1

Predicted to enatrong>btrong>le calcium ion trong>btrong>inding activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

smu-1 suppressor of mec-8 trong>andtrong> unc-52 homolog (C. elegans)

Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ring finger trong>andtrong> WD repeat domain 2, E3 utrong>btrong>iquitin protein ligase pseudogene 1

ankyrin repeat trong>andtrong> death domain containing 1A

Predicted to trong>btrong>e involved in signal transduction. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ankyrin repeat trong>andtrong> death domain containing 1trong>Btrong>

Predicted to trong>btrong>e involved in signal transduction. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

N-myc (trong>andtrong> STAT) interactor

NMYC interactor (NMI) encodes a protein that interacts with NMYC trong>andtrong> CMYC (two memtrong>btrong>ers of the oncogene Myc family), trong>andtrong> other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 trong>andtrong> augments STAT-mediated transcription in response to cytokines IL2 trong>andtrong> IFN-gamma. The NMI mRNA has low expression levels in all human fetal trong>andtrong> adult tissues tested except trong>btrong>rain trong>andtrong> has high expression in cancer cell line-myeloid leukemias. [provided trong>btrong>y RefSeq, Jul 2008]

cleavage trong>andtrong> polyadenylation specificity factor sutrong>btrong>unit 5-like

cilia trong>andtrong> flagella associated protein 126

Predicted to trong>btrong>e involved in cilium organization trong>andtrong> flagellated sperm motility. Located in axonemal microtutrong>btrong>ule. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ring finger trong>andtrong> FYVE-like domain containing E3 utrong>btrong>iquitin protein ligase

Enatrong>btrong>les enzyme trong>btrong>inding activity; p53 trong>btrong>inding activity; trong>andtrong> utrong>btrong>iquitin protein ligase activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity; negative regulation of signal transduction; trong>andtrong> protein K48-linked utrong>btrong>iquitination. Located in endosome memtrong>btrong>rane trong>andtrong> plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cleavage trong>andtrong> polyadenylation specific factor 3-like

The Integrator complex contains at least 12 sutrong>btrong>units trong>andtrong> associates with the C-terminal domain of RNA polymerase II large sutrong>btrong>unit (POLR2A; MIM 180660) trong>andtrong> mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) trong>andtrong> U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic sutrong>btrong>unit of the Integrator complex (trong>Btrong>aillat et al., 2005 [Putrong>btrong>Med 16239144]).[supplied trong>btrong>y OMIM, Mar 2008]

calcium trong>btrong>inding trong>andtrong> coiled-coil domain 1

Enatrong>btrong>les RNA polymerase II cis-regulatory region sequence-specific DNA trong>btrong>inding activity; trong>btrong>eta-catenin trong>btrong>inding activity; trong>andtrong> nuclear receptor coactivator activity. Involved in positive regulation of DNA-templated transcription trong>andtrong> positive regulation of gene expression. Located in cytosol trong>andtrong> nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

calcium trong>btrong>inding trong>andtrong> coiled-coil domain 2

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for utrong>btrong>iquitin-coated trong>btrong>acteria trong>andtrong> plays an important role in innate immunity trong>btrong>y mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have trong>btrong>een otrong>btrong>served for this gene. [provided trong>btrong>y RefSeq, May 2012]

fitrong>btrong>ronectin type III trong>andtrong> SPRY domain containing 1-like

Predicted to trong>btrong>e located in memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

DET1 trong>andtrong> DDtrong>Btrong>1 associated 1

Involved in protein polyutrong>btrong>iquitination. Part of Cul4-RING E3 utrong>btrong>iquitin ligase complex. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

heart trong>andtrong> neural crest derivatives expressed 2

The protein encoded trong>btrong>y this gene trong>btrong>elongs to the trong>btrong>asic helix-loop-helix family of transcription factors. This gene product is one of two closely related family memtrong>btrong>ers, the HAND proteins, which are asymmetrically expressed in the developing ventricular chamtrong>btrong>ers trong>andtrong> play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle trong>andtrong> aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limtrong>btrong> trong>andtrong> trong>btrong>ranchial arch development. [provided trong>btrong>y RefSeq, Jul 2008]

FCH trong>andtrong> doutrong>btrong>le SH3 domains 1

Predicted to enatrong>btrong>le lipid trong>btrong>inding activity. Predicted to trong>btrong>e involved in neuromuscular synaptic transmission trong>andtrong> positive regulation of actin filament polymerization. Predicted to act upstream of or within several processes, including import into nucleus; inflammatory response; trong>andtrong> response to hydrogen peroxide. Predicted to trong>btrong>e located in cuticular plate. Predicted to trong>btrong>e part of protein-containing complex. Predicted to trong>btrong>e active in cytosol; neuromuscular junction; trong>andtrong> recycling endosome. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

FCH trong>andtrong> doutrong>btrong>le SH3 domains 2

Enatrong>btrong>les phosphatidylinositol-3,4,5-trisphosphate trong>btrong>inding activity trong>andtrong> phosphatidylinositol-3,4-trong>btrong>isphosphate trong>btrong>inding activity. Involved in clathrin-dependent endocytosis trong>andtrong> positive regulation of Arp2/3 complex-mediated actin nucleation. Located in clathrin-coated pit trong>andtrong> plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

Alport syndrome, mental retardation, midface hypoplasia trong>andtrong> elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, sutrong>btrong>microscopic deletion of the X chromosome including this gene, COL4A5, trong>andtrong> FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, trong>andtrong> elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Jan 2010]

coxsackie virus trong>andtrong> adenovirus receptor pseudogene 3

transmemtrong>btrong>rane phosphoinositide 3-phosphatase trong>andtrong> tensin homolog 2

TPIP is a memtrong>btrong>er of a large class of memtrong>btrong>rane-associated phosphatases with sutrong>btrong>strate specificity for the 3-position phosphate of inositol phospholipids.[supplied trong>btrong>y OMIM, Jul 2002]

transmemtrong>btrong>rane trong>andtrong> coiled-coil domain family 1 pseudogene 1

RGD motif, leucine rich repeats, tropomodulin domain trong>andtrong> proline-rich containing

This gene encodes a memtrong>btrong>er of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with trong>andtrong> negatively regulates the heterodimeric capping protein trong>andtrong> promotes cell migration. Reduced expression of this gene has trong>btrong>een otrong>btrong>served in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized trong>btrong>y smooth muscle tumors trong>andtrong> impaired T-cell function. [provided trong>btrong>y RefSeq, May 2017]

transmemtrong>btrong>rane trong>andtrong> tetratricopeptide repeat containing 2

The protein encoded trong>btrong>y this gene is an integral memtrong>btrong>rane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for trong>btrong>eing involved in protein-protein interactions. This protein trong>btrong>inds trong>btrong>oth the calcium uptake pump SERCA2trong>Btrong> trong>andtrong> the cartrong>btrong>ohydrate-trong>btrong>inding chaperone calnexin, trong>andtrong> it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Fetrong>btrong> 2016]

doutrong>btrong>lesex trong>andtrong> matrong>btrong>-3 related transcription factor 1

This gene is found in a cluster with two other memtrong>btrong>ers of the gene family, having in common a zinc finger-like DNA-trong>btrong>inding motif (DM domain). The DM domain is an ancient, conserved component of the vertetrong>btrong>rate sex-determining pathway that is also a key regulator of male development in flies trong>andtrong> nematodes. This gene exhitrong>btrong>its a gonad-specific trong>andtrong> sexually dimorphic expression pattern. Defective testicular development trong>andtrong> XY feminization occur when this gene is hemizygous. [provided trong>btrong>y RefSeq, Jul 2008]

doutrong>btrong>lesex trong>andtrong> matrong>btrong>-3 related transcription factor 2

The protein encoded trong>btrong>y this gene trong>btrong>elongs to the DMRT gene family, sharing a DM DNA-trong>btrong>inding domain with Drosophila 'doutrong>btrong>lesex' (dsx) trong>andtrong> C. elegans matrong>btrong>3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis trong>andtrong> XY sex reversal. Hence this gene is one of the ctrong>andtrong>idates for sex-determining gene(s) on chr 9. [provided trong>btrong>y RefSeq, Apr 2010]

doutrong>btrong>lesex trong>andtrong> matrong>btrong>-3 related transcription factor 3

Enatrong>btrong>les sequence-specific doutrong>btrong>le-strtrong>andtrong>ed DNA trong>btrong>inding activity. Predicted to trong>btrong>e involved in male sex differentiation trong>andtrong> regulation of transcription trong>btrong>y RNA polymerase II. Predicted to act upstream of or within several processes, including adult walking trong>btrong>ehavior; regulation of odontogenesis of dentin-containing tooth; trong>andtrong> ventral spinal cord interneuron specification. Predicted to trong>btrong>e located in chromatin. Predicted to trong>btrong>e active in nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

CASP2 trong>andtrong> RIPK1 domain containing adaptor with death domain

This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) trong>andtrong> RIPK1/RIP kinase, trong>andtrong> acts in promoting apoptosis. A mutation in this gene was associated with cognitive disatrong>btrong>ility. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Fetrong>btrong> 2016]

Hypertelorism, preauricular sinus, punctal pits, trong>andtrong> deafness

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 1

This gene encodes a memtrong>btrong>er of an ADP-ritrong>btrong>osylation factor GTPase-activating protein family involved in memtrong>btrong>rane trafficking trong>andtrong> cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Oct 2011]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 2

The protein encoded trong>btrong>y this gene trong>btrong>elongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor trong>btrong>y activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, trong>andtrong> promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have trong>btrong>een descritrong>btrong>ed for this gene. [provided trong>btrong>y RefSeq, Aug 2011]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 3

This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses trong>btrong>y linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain trong>andtrong> several C-terminal ankryn repeat domains. [provided trong>btrong>y RefSeq, Apr 2017]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 4

Predicted to enatrong>btrong>le GTPase activator activity trong>andtrong> GTPase activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 5

Predicted to enatrong>btrong>le GTPase activator activity trong>andtrong> GTPase activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 6

Predicted to enatrong>btrong>le GTPase activator activity trong>andtrong> GTPase activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 9

Predicted to enatrong>btrong>le GTPase activator activity trong>andtrong> GTPase activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

downregulated RNA in cancer, inhitrong>btrong>itor of cell invasion trong>andtrong> migration

HECT domain trong>andtrong> ankyrin repeat containing E3 utrong>btrong>iquitin protein ligase 1

This gene encodes a HECT domain trong>andtrong> ankyrin repeat-containing utrong>btrong>iquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their sutrong>btrong>cellular localization or proteasomal degradation. The protein is a potential tumor suppressor trong>andtrong> is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided trong>btrong>y RefSeq, Mar 2016]

RUN trong>andtrong> SH3 domain containing 2

This gene encodes a RUN trong>andtrong> SH3 domain containing protein that interacts with Ratrong>btrong>1trong>btrong> trong>andtrong> Ratrong>btrong>1-trong>btrong>inding protein GM130. Alternatively spliced transcript variants have trong>btrong>een otrong>btrong>served for this gene. [provided trong>btrong>y RefSeq, Jun 2012]

RUN trong>andtrong> SH3 domain containing 1

Predicted to enatrong>btrong>le actin trong>btrong>inding activity. Involved in protein polyutrong>btrong>iquitination. Located in cytosol. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

leucine zipper trong>andtrong> CTNNtrong>Btrong>IP1 domain containing

Predicted to enatrong>btrong>le trong>btrong>eta-catenin trong>btrong>inding activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

kelch repeat trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing 7

The protein encoded trong>btrong>y this gene is a transcriptional activator, having trong>btrong>een shown to increase the transcription of activator protein-1 trong>andtrong> serum response element. The encoded protein can also form a complex with Ktrong>Btrong>Ttrong>Btrong>D6 trong>andtrong> CUL3, which regulates the utrong>btrong>iquitylation trong>andtrong> degradation of TIAM1, which is a regulator of RAC1. [provided trong>btrong>y RefSeq, Jul 2016]

kelch repeat trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing 4

kelch repeat trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing 3

Predicted to enatrong>btrong>le utrong>btrong>iquitin-like ligase-sutrong>btrong>strate adaptor activity. Predicted to trong>btrong>e involved in proteasome-mediated utrong>btrong>iquitin-dependent protein catatrong>btrong>olic process. Predicted to trong>btrong>e part of Cul3-RING utrong>btrong>iquitin ligase complex. Predicted to trong>btrong>e active in cytoplasm. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

kelch repeat trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing 2

Enatrong>btrong>les utrong>btrong>iquitin-like ligase-sutrong>btrong>strate adaptor activity. Involved in protein K48-linked utrong>btrong>iquitination trong>andtrong> regulation of cellular response to insulin stimulus. Is active in cytoplasm. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

kelch repeat trong>andtrong> trong>Btrong>Ttrong>Btrong> (POZ) domain containing 8

Predicted to enatrong>btrong>le utrong>btrong>iquitin-like ligase-sutrong>btrong>strate adaptor activity. Involved in neural crest cell development; neural crest formation; trong>andtrong> protein monoutrong>btrong>iquitination. Part of Cul3-RING utrong>btrong>iquitin ligase complex. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ArfGAP with GTPase domain, ankyrin repeat trong>andtrong> PH domain 1 pseudogene

TOPtrong>Btrong>P1-interacting checkpoint trong>andtrong> replication regulator

Enatrong>btrong>les chromatin trong>btrong>inding activity. Involved in regulation of DNA-templated DNA replication initiation. Located in cytosol trong>andtrong> nucleoplasm. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

trong>Btrong>RO1 domain trong>andtrong> CAAX motif containing

Involved in mitotic nuclear memtrong>btrong>rane reassemtrong>btrong>ly. Located in nuclear envelope. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

integrin, trong>btrong>eta 2 (complement component 3 receptor 3 trong>andtrong> 4 sutrong>btrong>unit)

This gene encodes an integrin trong>btrong>eta chain, which comtrong>btrong>ines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response trong>andtrong> defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided trong>btrong>y RefSeq, Dec 2014]

cilia trong>andtrong> flagella associated protein 69

Acts upstream of or within sperm axoneme assemtrong>btrong>ly. Located in cytoplasm trong>andtrong> sperm midpiece. Implicated in spermatogenic failure 24. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

cilia trong>andtrong> flagella associated protein 61

Involved in sperm flagellum assemtrong>btrong>ly. Predicted to trong>btrong>e located in radial spoke stalk trong>andtrong> sperm flagellum. Implicated in spermatogenic failure 84. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

sterile alpha motif trong>andtrong> leucine zipper containing kinase AZK

This gene is a memtrong>btrong>er of the MAPKKK family of signal transduction molecules trong>andtrong> encodes a protein with an N-terminal kinase catalytic domain, followed trong>btrong>y a leucine zipper motif trong>andtrong> a sterile-alpha motif (SAM). This magnesium-trong>btrong>inding protein forms homodimers trong>andtrong> is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest trong>andtrong> activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have trong>btrong>een characterized. [provided trong>btrong>y RefSeq, Jul 2008]

V-set trong>andtrong> transmemtrong>btrong>rane domain containing 5

Predicted to trong>btrong>e involved in several processes, including filopodium assemtrong>btrong>ly; positive regulation of excitatory synapse assemtrong>btrong>ly; trong>andtrong> protein homooligomerization. Predicted to trong>btrong>e located in memtrong>btrong>rane. Predicted to trong>btrong>e active in axon; dendrite; trong>andtrong> plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

V-set trong>andtrong> transmemtrong>btrong>rane domain containing 4

Predicted to act upstream of or within several processes, including endothelial cell proliferation; retina trong>btrong>lood vessel maintenance; trong>andtrong> vasculature development. Predicted to trong>btrong>e located in extracellular region trong>andtrong> plasma memtrong>btrong>rane. Predicted to trong>btrong>e active in memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

V-set trong>andtrong> transmemtrong>btrong>rane domain containing 1

Predicted to enatrong>btrong>le cytokine activity. Predicted to trong>btrong>e involved in immune response-regulating signaling pathway. Predicted to trong>btrong>e located in extracellular space trong>andtrong> memtrong>btrong>rane. Predicted to trong>btrong>e active in plasma memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

growth arrest trong>andtrong> DNA-damage-inducitrong>btrong>le, alpha

This gene is a memtrong>btrong>er of a group of genes whose transcript levels are increased following stressful growth arrest conditions trong>andtrong> treatment with DNA-damaging agents. The protein encoded trong>btrong>y this gene responds to environmental stresses trong>btrong>y mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated trong>btrong>y trong>btrong>oth p53-dependent trong>andtrong> -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have trong>btrong>een found for this gene.[provided trong>btrong>y RefSeq, Dec 2010]

growth arrest trong>andtrong> DNA-damage-inducitrong>btrong>le, trong>btrong>eta

This gene is a memtrong>btrong>er of a group of genes whose transcript levels are increased following stressful growth arrest conditions trong>andtrong> treatment with DNA-damaging agents. The genes in this group respond to environmental stresses trong>btrong>y mediating activation of the p38/JNK pathway. This activation is mediated via their proteins trong>btrong>inding trong>andtrong> activating MTK1/MEKK4 kinase, which is an upstream activator of trong>btrong>oth p38 trong>andtrong> JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth trong>andtrong> apoptosis. These genes are regulated trong>btrong>y different mechanisms, trong>btrong>ut they are often coordinately expressed trong>andtrong> can function cooperatively in inhitrong>btrong>iting cell growth. [provided trong>btrong>y RefSeq, Jul 2008]

growth arrest trong>andtrong> DNA-damage-inducitrong>btrong>le, gamma

This gene is a memtrong>btrong>er of a group of genes whose transcript levels are increased following stressful growth arrest conditions trong>andtrong> treatment with DNA-damaging agents. The protein encoded trong>btrong>y this gene responds to environmental stresses trong>btrong>y mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided trong>btrong>y RefSeq, Jul 2008]

zinc finger trong>andtrong> trong>Btrong>Ttrong>Btrong> domain containing 45 pseudogene 2

zinc finger trong>andtrong> trong>Btrong>Ttrong>Btrong> domain containing 45 pseudogene 1

HECT trong>andtrong> RLD domain containing E3 utrong>btrong>iquitin protein ligase family memtrong>btrong>er 1

This gen encodes a memtrong>btrong>er of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 trong>andtrong> Ratrong>btrong> proteins. This protein may trong>btrong>e involved in memtrong>btrong>rane transport processes. [provided trong>btrong>y RefSeq, Mar 2012]

HECT trong>andtrong> RLD domain containing E3 utrong>btrong>iquitin protein ligase 3

This gene encodes a memtrong>btrong>er the HERC utrong>btrong>iquitin ligase family. The encoded protein is located in the cytosol trong>andtrong> trong>btrong>inds utrong>btrong>iquitin via a HECT domain. Mutations in this gene have trong>btrong>een associated with colorectal trong>andtrong> gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have trong>btrong>een otrong>btrong>served for this gene. [provided trong>btrong>y RefSeq, Oct 2012]

HECT trong>andtrong> RLD domain containing E3 utrong>btrong>iquitin protein ligase 2

This gene trong>btrong>elongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All memtrong>btrong>ers have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 trong>andtrong> a C-terminal HECT (homologous to E6-AP C terminus) domain found in a numtrong>btrong>er of E3 utrong>btrong>iquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variatrong>btrong>ility. Multiple pseudogenes of this gene are located on chromosomes 15 trong>andtrong> 16. [provided trong>btrong>y RefSeq, Mar 2012]

HECT trong>andtrong> RLD domain containing E3 utrong>btrong>iquitin protein ligase 5

This gene is a memtrong>btrong>er of the HERC family of utrong>btrong>iquitin ligases trong>andtrong> encodes a protein with a HECT domain trong>andtrong> five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm trong>andtrong> perinuclear region trong>andtrong> functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided trong>btrong>y RefSeq, Aug 2021]

HECT trong>andtrong> RLD domain containing E3 utrong>btrong>iquitin protein ligase 4

HERC4 trong>btrong>elongs to the HERC family of utrong>btrong>iquitin ligases, all of which contain a HECT domain trong>andtrong> at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with utrong>btrong>iquitin trong>btrong>efore transferring it to a sutrong>btrong>strate, trong>andtrong> the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [Putrong>btrong>Med 15676274]).[supplied trong>btrong>y OMIM, Mar 2008]

HECT trong>andtrong> RLD domain containing E3 utrong>btrong>iquitin protein ligase family memtrong>btrong>er 6

HERC6 trong>btrong>elongs to the HERC family of utrong>btrong>iquitin ligases, all of which contain a HECT domain trong>andtrong> at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with utrong>btrong>iquitin trong>btrong>efore transferring it to a sutrong>btrong>strate, trong>andtrong> the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [Putrong>btrong>Med 15676274]).[supplied trong>btrong>y OMIM, Mar 2008]

angiogenic factor with G patch trong>andtrong> FHA domains 1 pseudogene 10

fitrong>btrong>ronectin type III trong>andtrong> ankyrin repeat domains 1

Involved in regulation of DNA-templated transcription trong>andtrong> regulation of apoptotic process. Located in chromatin; cytosol; trong>andtrong> nucleoplasm. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ankyrin repeat trong>andtrong> MYND domain containing 1

Predicted to enatrong>btrong>le metal ion trong>btrong>inding activity. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ankyrin repeat trong>andtrong> MYND domain containing 2

Predicted to enatrong>btrong>le enzyme trong>btrong>inding activity trong>andtrong> metal ion trong>btrong>inding activity. Predicted to trong>btrong>e located in cilium. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

nuclear utrong>btrong>iquitous casein trong>andtrong> cyclin-dependent kinase sutrong>btrong>strate 1-like

alanine trong>andtrong> arginine rich domain containing protein

Predicted to act upstream of or within response to testosterone. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

transmemtrong>btrong>rane trong>andtrong> tetratricopeptide repeat containing 1 pseudogene

remodeling trong>andtrong> spacing factor 1

This gene encodes a nuclear protein that interacts with hepatitis trong>Btrong> virus X protein (Htrong>Btrong>X) trong>andtrong> facilitates transcription of hepatitis trong>Btrong> virus genes trong>btrong>y the Htrong>Btrong>X transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H sutrong>btrong>unit functions as the nucleosome-dependent ATPase, trong>andtrong> this protein as the histone chaperone. [provided trong>btrong>y RefSeq, Sep 2011]

cilia trong>andtrong> flagella associated protein 69 pseudogene

cilia trong>andtrong> flagella associated protein 47

While this gene is well-supported trong>btrong>y transcript data, no functional information on its protein product is currently availatrong>btrong>le. [provided trong>btrong>y RefSeq, Dec 2009]

cilia trong>andtrong> flagella associated protein 44

Enatrong>btrong>les peptidase activity. Involved in sperm axoneme assemtrong>btrong>ly. Acts upstream of or within microtutrong>btrong>ule cytoskeleton organization. Predicted to trong>btrong>e located in cytoplasm; cytoskeleton; trong>andtrong> motile cilium. Implicated in spermatogenic failure 20. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

F-trong>btrong>ox trong>andtrong> leucine-rich repeat protein 20

Memtrong>btrong>ers of the F-trong>btrong>ox protein family, such as Ftrong>Btrong>XL20, are characterized trong>btrong>y an approximately 40-amino acid F-trong>btrong>ox motif. SCF complexes, formed trong>btrong>y SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), trong>andtrong> F-trong>btrong>ox proteins, act as protein-utrong>btrong>iquitin ligases. F-trong>btrong>ox proteins interact with SKP1 through the F trong>btrong>ox, trong>andtrong> they interact with utrong>btrong>iquitination targets through other protein interaction domains (Jin et al., 2004 [Putrong>btrong>Med 15520277]).[supplied trong>btrong>y OMIM, Mar 2008]

F-trong>btrong>ox trong>andtrong> leucine-rich repeat protein 21 (gene/pseudogene)

This locus represents a transcritrong>btrong>ed pseudogene that is related to genes encoding memtrong>btrong>ers of the F-trong>btrong>ox family of proteins. [provided trong>btrong>y RefSeq, Nov 2017]

F-trong>btrong>ox trong>andtrong> leucine-rich repeat protein 22

This gene encodes a memtrong>btrong>er of the F-trong>btrong>ox protein family. This F-trong>btrong>ox protein interacts with S-phase kinase-associated protein 1A trong>andtrong> cullin in order to form SCF complexes which function as utrong>btrong>iquitin ligases.[provided trong>btrong>y RefSeq, Sep 2010]

zinc finger with KRAtrong>Btrong> trong>andtrong> SCAN domains 8 pseudogene

coxsackie virus trong>andtrong> adenovirus receptor

The protein encoded trong>btrong>y this gene is a type I memtrong>btrong>rane receptor for group trong>Btrong> coxsackieviruses trong>andtrong> sutrong>btrong>group C adenoviruses. Several transcript variants encoding different isoforms have trong>btrong>een found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, trong>andtrong> 21. [provided trong>btrong>y RefSeq, May 2011]

Microtia with nasolacrimal duct imperforation trong>andtrong> eye colotrong>btrong>oma

inverted formin, FH2 trong>andtrong> WH2 domain containing

This gene represents a memtrong>btrong>er of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhitrong>btrong>itory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded trong>btrong>y this locus may function in polymerization trong>andtrong> depolymerization of actin filaments. Mutations at this locus have trong>btrong>een associated with focal segmental glomerulosclerosis 5.[provided trong>btrong>y RefSeq, Aug 2010]

prostate trong>andtrong> testis expressed 4

Enatrong>btrong>les acetylcholine receptor regulator activity. Involved in regulation of neurotransmitter receptor activity. Located in acrosomal vesicle trong>andtrong> extracellular space. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

PH domain trong>andtrong> leucine rich repeat protein phosphatase 1

This gene encodes a memtrong>btrong>er of the serine/threonine phosphatase family. The encoded protein promotes apoptosis trong>btrong>y dephosphorylating trong>andtrong> inactivating the serine/threonine kinase Akt, trong>andtrong> functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in otrong>btrong>esity trong>andtrong> type 2 diatrong>btrong>etes trong>btrong>y interfering with Akt-mediated insulin signaling. [provided trong>btrong>y RefSeq, Dec 2011]

DIS3 exosome endoritrong>btrong>onuclease trong>andtrong> 3'-5' exoritrong>btrong>onuclease

Enatrong>btrong>les 3'-5'-RNA exonuclease activity; endonuclease activity; trong>andtrong> guanyl-nucleotide exchange factor activity. Involved in CUT catatrong>btrong>olic process; RNA processing; trong>andtrong> rRNA catatrong>btrong>olic process. Located in cytosol trong>andtrong> nucleoplasm. Part of nuclear exosome (RNase complex). [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ankyrin repeat trong>andtrong> sterile alpha motif domain containing 4trong>Btrong>

Involved in trong>btrong>rush trong>btrong>order assemtrong>btrong>ly; protein localization to microvillus; trong>andtrong> protein-containing complex assemtrong>btrong>ly. Located in trong>btrong>rush trong>btrong>order trong>andtrong> microvillus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

spindle trong>andtrong> kinetochore associated complex sutrong>btrong>unit 2 pseudogene 1

region containing immunoglotrong>btrong>ulin superfamily, memtrong>btrong>er 6 trong>andtrong> DREV1

sushi, nidogen trong>andtrong> EGF-like domains 1

Predicted to enatrong>btrong>le Notch trong>btrong>inding activity. Predicted to trong>btrong>e involved in cell-matrix adhesion. Located in extracellular matrix. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

Myelodysplasia trong>andtrong> leukemia syndrome with monosomy 7

transcription elongation factor A (SII) N-terminal trong>andtrong> central domain containing 2

Predicted to trong>btrong>e involved in regulation of transcription trong>btrong>y RNA polymerase II. Predicted to trong>btrong>e active in nucleus. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

G patch domain trong>andtrong> KOW motifs

This gene encodes a putative RNA-trong>btrong>inding protein containing G-patch trong>andtrong> KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A trong>andtrong> protein kinase X trong>andtrong> is also found associated with the spliceosome. [provided trong>btrong>y RefSeq, Aug 2013]

CUtrong>Btrong> trong>andtrong> zona pellucida-like domains 1

Predicted to trong>btrong>e involved in trypsinogen activation. Located in memtrong>btrong>rane. [provided trong>btrong>y Alliance of Genome Resources, Mar 2025]

ring finger trong>andtrong> WD repeat domain 2, E3 utrong>btrong>iquitin protein ligase pseudogene

chemokine (C-C motif) ligtrong>andtrong> 18 (pulmonary trong>andtrong> activation-regulated)

This antimicrotrong>btrong>ial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory trong>andtrong> inflammatory processes. The CC cytokines are proteins characterized trong>btrong>y two adjacent cysteines. The cytokine encoded trong>btrong>y this gene displays chemotactic activity for naive T cells, CD4+ trong>andtrong> CD8+ T cells trong>andtrong> nonactivated lymphocytes, trong>btrong>ut not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells trong>andtrong> activated macrophages in lymph nodes. It may play a role in trong>btrong>oth humoral trong>andtrong> cell-mediated immunity responses. [provided trong>btrong>y RefSeq, Sep 2014]

signal transducer trong>andtrong> activator of transcription 5trong>Btrong>

The protein encoded trong>btrong>y this gene is a memtrong>btrong>er of the STAT family of transcription factors. In response to cytokines trong>andtrong> growth factors, STAT family memtrong>btrong>ers are phosphorylated trong>btrong>y the receptor associated kinases, trong>andtrong> then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered trong>btrong>y various cell ligtrong>andtrong>s, such as IL2, IL4, CSF1, trong>andtrong> different growth hormones. It has trong>btrong>een shown to trong>btrong>e involved in diverse trong>btrong>iological processes, such as TCR signaling, apoptosis, adult mammary gltrong>andtrong> development, trong>andtrong> sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small sutrong>btrong>set of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated trong>btrong>y this protein may trong>btrong>e the cause of the APLL. [provided trong>btrong>y RefSeq, Jul 2008]

signal transducer trong>andtrong> activator of transcription 5A

The protein encoded trong>btrong>y this gene is a memtrong>btrong>er of the STAT family of transcription factors. In response to cytokines trong>andtrong> growth factors, STAT family memtrong>btrong>ers are phosphorylated trong>btrong>y the receptor associated kinases, trong>andtrong> then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated trong>btrong>y, trong>andtrong> mediates the responses of many cell ligtrong>andtrong>s, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thromtrong>btrong>opoietin, trong>andtrong> different growth hormones. Activation of this protein in myeloma trong>andtrong> lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus trong>andtrong> has trong>btrong>een shown to trong>btrong>e essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of trong>Btrong>CL2L1/trong>Btrong>CL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Dec 2013]

RAS guanyl releasing protein 2 (calcium trong>andtrong> DAG-regulated)

The protein encoded trong>btrong>y this gene is a trong>btrong>rain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 ttrong>andtrong>em repeats of EF-htrong>andtrong> calcium-trong>btrong>inding motifs, trong>andtrong> a C-terminal diacylglycerol/phortrong>btrong>ol ester-trong>btrong>inding domain. This protein can activate small GTPases, including RAS trong>andtrong> RAP1/RAS3. The nucleotide exchange activity of this protein can trong>btrong>e stimulated trong>btrong>y calcium trong>andtrong> diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have trong>btrong>een found for this gene. [provided trong>btrong>y RefSeq, Jan 2016]

RAS guanyl releasing protein 3 (calcium trong>andtrong> DAG-regulated)

The protein encoded trong>btrong>y this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS trong>andtrong> RAP1A. Defects in this gene have trong>btrong>een associated with systemic lupus erythematosus trong>andtrong> several cancers. [provided trong>btrong>y RefSeq, Mar 2017]

RAS guanyl releasing protein 1 (calcium trong>andtrong> DAG-regulated)

This gene is a memtrong>btrong>er of a family of genes characterized trong>btrong>y the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of trong>btrong>ound GDP for GTP. It activates the Erk/MAP kinase cascade trong>andtrong> regulates T-cells trong>andtrong> trong>Btrong>-cells development, homeostasis trong>andtrong> differentiation. Alternatively spliced transcript variants encoding different isoforms have trong>btrong>een identified. Altered expression of the different isoforms of this protein may trong>btrong>e a cause of susceptitrong>btrong>ility to systemic lupus erythematosus (SLE). [provided trong>btrong>y RefSeq, Jul 2008]