Harmonizome 3.0

From Comparative Toxicogenomics Database

Disease-gene interactions from manually curated literature

From DISEASES

Disease gene evidence scores by manual literature curation

From DISEASES

Disease gene evidence scores by integrating experimental data (GWAS)

From DISEASES

Gene-disease co-occurrence scores from text-mining biomedical abstracts

From Genetic Association Database

Gene-disease associations curated from genetic association studies

From Genetic Association Database

Gene-disease associations curated from genetic association studies

From GWASdb

SNP-disease association p-values curated from published GWAS

From Human Phenotype Ontology

Phenotype-causing gene mutations of human phenotypes from disease knowledgebases

From Online Mendelian Inheritance in Man

Disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications

From PhosphoSitePlus

Disease-phosphosite associations curated from literature

From DisGeNET

Gene-disease associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature

From DISEASES

Disease gene evidence scores by manual literature curation

From DISEASES

Disease gene evidence scores by integrating experimental data (GWAS)

From DISEASES

Gene-disease co-occurrence scores from text-mining biomedical abstracts

Fatty liver disease, nonalcoholic, susceptibility to, 2

Fatty liver disease 1, susceptiblity to

fatty acid binding protein 1, liver

This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]

liver cancer-associated transcript 8

liver cancer-associated transcript 1

alkaline phosphatase, liver/bone/kidney

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

liver cancer-associated transcript 5

cadherin 17, LI cadherin (liver-intestine)

This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

growth factor, augmenter of liver regeneration

The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]

phosphofructokinase, liver

This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

pyruvate kinase, liver and RBC

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

phosphorylase, glycogen, liver

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)

The protein encoded by this gene is a non-secretory ribonuclease that belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein antimicrobial activity against viruses. [provided by RefSeq, Oct 2014]

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2

Predicted to be involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex. [provided by Alliance of Genome Resources, Mar 2025]

glycogen synthase 2 (liver)

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]

ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) pseudogene

carnitine palmitoyltransferase 1A (liver)

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

glutaminase 2 (liver, mitochondrial)

The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

liver-related low express protein 1

cytochrome c oxidase subunit VIIa polypeptide 2 (liver)

Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1

phosphorylase kinase, alpha 2 (liver)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

liver expressed antimicrobial peptide 2

This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]

fatty acyl CoA reductase 2 pseudogene 1

fatty acid amide hydrolase pseudogene 1

fatty acid binding protein 7, brain pseudogene 2

fatty acid binding protein 7, brain pseudogene 1

fatty acid synthase

The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]

fatty acid amide hydrolase 2

This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

solute carrier family 27 (fatty acid transporter), member 5

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]

solute carrier family 27 (fatty acid transporter), member 4

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]

solute carrier family 27 (fatty acid transporter), member 6

This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

solute carrier family 27 (fatty acid transporter), member 3

This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

solute carrier family 27 (fatty acid transporter), member 2

The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

fatty acid desaturase 1

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

fatty acid desaturase 3

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

fatty acid desaturase 2

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

fatty acid desaturase 6

Predicted to enable oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water. Predicted to be involved in lipid metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

fatty acid binding protein 5 pseudogene 1

fatty acid binding protein 5 pseudogene 3

Predicted to enable fatty acid binding activity. Predicted to be involved in fatty acid transport. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

fatty acid binding protein 5 pseudogene 2

fatty acid binding protein 5 pseudogene 5

fatty acid binding protein 5 pseudogene 4

fatty acid binding protein 5 pseudogene 7

fatty acid binding protein 5 pseudogene 6

fatty acid binding protein 5 pseudogene 9

fatty acid binding protein 5 pseudogene 8

fatty acyl CoA reductase 2 pseudogene 4

fatty acyl CoA reductase 2 pseudogene 3

fatty acyl CoA reductase 2 pseudogene 2

fatty acid binding protein 5 pseudogene 15

fatty acid binding protein 5 pseudogene 14

fatty acid binding protein 5 pseudogene 10

fatty acid binding protein 5 pseudogene 12

solute carrier family 27 (fatty acid transporter), member 1

Enables biotin transmembrane transporter activity; efflux transmembrane transporter activity; and long-chain fatty acid transmembrane transporter activity. Involved in several processes, including glycerophospholipid biosynthetic process; lipid transport across blood-brain barrier; and monocarboxylic acid transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Polyunsaturated fatty acids plasma level QTL1

fatty acid binding protein 12

Predicted to enable fatty acid binding activity. Predicted to be involved in fatty acid transport. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

fatty acyl CoA reductase 1 pseudogene 1

fatty acyl CoA reductase 2 pseudogene

fatty acid binding protein 6, ileal

This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]

fatty acid binding protein 7, brain

The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]

fatty acid binding protein 4, adipocyte

FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]

fatty acid binding protein 5 (psoriasis-associated)

This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]

fatty acid binding protein 2, intestinal

The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]

fatty acid binding protein 3, muscle and heart

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

free fatty acid receptor 4

This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

fatty acyl CoA reductase 2 pseudogene

fatty acyl CoA reductase 2 pseudogene

fatty acyl CoA reductase 2 pseudogene

fatty acid 2-hydroxylase

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]

fatty acid desaturase 2 pseudogene 1

Predicted to enable oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water. Predicted to be involved in lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

fatty acid binding protein 9, testis

Predicted to enable long-chain fatty acid binding activity. Predicted to be involved in long-chain fatty acid transport. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

free fatty acid receptor 2

This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]

free fatty acid receptor 3

Enables G protein-coupled receptor activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway and cellular response to fatty acid. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

fatty acyl CoA reductase 1

The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]

fatty acyl CoA reductase 2

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

fatty acid binding protein 3, pseudogene 2

ELOVL fatty acid elongase 6

Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]

ELOVL fatty acid elongase 7

Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

ELOVL fatty acid elongase 4

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

ELOVL fatty acid elongase 5

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

ELOVL fatty acid elongase 2

Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

ELOVL fatty acid elongase 3

This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]

ELOVL fatty acid elongase 1

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

free fatty acid receptor 1

This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]

fatty acid binding protein 5 pseudogene 11

fatty acid hydroxylase domain containing 2

Predicted to enable C-4 methylsterol oxidase activity. Involved in positive regulation of megakaryocyte differentiation and positive regulation of protein phosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

fatty acid amide hydrolase

This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]

fatty acid desaturase 2B, pseudogene

Predicted to enable oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water. Predicted to be involved in lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

UFM1-specific peptidase 1 (non-functional)

This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

long intergenic non-protein coding RNA 1221

Helicobacter pylori responsive 1 (non-protein coding)

long intergenic non-protein coding RNA 1227

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

protein tyrosine phosphatase, non-receptor type 12

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

protein tyrosine phosphatase, non-receptor type 11

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

protein tyrosine phosphatase, non-receptor type 14

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

long intergenic non-protein coding RNA 1091

long intergenic non-protein coding RNA 1090

long intergenic non-protein coding RNA 1093

long intergenic non-protein coding RNA 1095

long intergenic non-protein coding RNA 1094

long intergenic non-protein coding RNA 1097

long intergenic non-protein coding RNA 1096

long intergenic non-protein coding RNA 1098

long intergenic non-protein coding RNA 320

long intergenic non-protein coding RNA 323

long intergenic non-protein coding RNA 324

long intergenic non-protein coding RNA 326

long intergenic non-protein coding RNA 327

long intergenic non-protein coding RNA 328

RAB3 GTPase activating protein subunit 2 (non-catalytic)

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

long intergenic non-protein coding RNA 1215

long intergenic non-protein coding RNA 1214

long intergenic non-protein coding RNA 847

long intergenic non-protein coding RNA 849

gastric cancer associated transcript 2 (non-protein coding)

gastric cancer associated transcript 1 (non-protein coding)

long intergenic non-protein coding RNA 1251

long intergenic non-protein coding RNA 1250

long intergenic non-protein coding RNA 1257

FOXC1 upstream transcript (non-protein coding)

CCDC26 long non-coding RNA

Implicated in brain cancer and high grade glioma. [provided by Alliance of Genome Resources, Mar 2025]

prostate cancer associated transcript 1 (non-protein coding)

This gene produces a long non-coding RNA that promotes cell proliferation and is upregulated in prostate, colorectal, and other cancers. This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding sites for microRNAs, and may act as a sponge for microRNAs that regulate cell growth pathways. [provided by RefSeq, Dec 2017]

prostate cancer associated transcript 2 (non-protein coding)

prostate cancer associated transcript 4 (non-protein coding)

prostate cancer associated transcript 7 (non-protein coding)

long intergenic non-protein coding RNA 1255

tyrosine-protein phosphatase non-receptor type 20

long intergenic non-protein coding RNA 1491

long intergenic non-protein coding RNA 1490

long intergenic non-protein coding RNA 1198

Biomarker of malignant astrocytoma. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1194

long intergenic non-protein coding RNA 1195

long intergenic non-protein coding RNA 1197

long intergenic non-protein coding RNA 1191

long intergenic non-protein coding RNA 1192

long intergenic non-protein coding RNA 1193

long intergenic non-protein coding RNA 1360

hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA

Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1365

non-SMC condensin I complex, subunit D2 pseudogene 1

long intergenic non-protein coding RNA 1547

Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1546

long intergenic non-protein coding RNA 1545

long intergenic non-protein coding RNA 1549

long intergenic non-protein coding RNA 1548

long intergenic non-protein coding RNA 633

long intergenic non-protein coding RNA 630

long intergenic non-protein coding RNA 636

long intergenic non-protein coding RNA 637

long intergenic non-protein coding RNA 635

long intergenic non-protein coding RNA 638

long intergenic non-protein coding RNA 639

mental retardation, non-syndromic, autosomal recessive, 28

mental retardation, non-syndromic, autosomal recessive, 24

mental retardation, non-syndromic, autosomal recessive, 23

highly accelerated region 1A (non-protein coding)

immunoglobulin heavy variable 1-38-4 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1348

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

long intergenic non-protein coding RNA 1550

long intergenic non-protein coding RNA 1551

long intergenic non-protein coding RNA 1552

long intergenic non-protein coding RNA 879

long intergenic non-protein coding RNA 877

long intergenic non-protein coding RNA 870

long intergenic non-protein coding RNA 871

long intergenic non-protein coding RNA 265-3, pseudogene

mental retardation, non-syndromic, autosomal recessive, 10

tyrosine-protein phosphatase non-receptor type 23-like

long intergenic non-protein coding RNA 969

long intergenic non-protein coding RNA 404

long intergenic non-protein coding RNA 400

long intergenic non-protein coding RNA 403

long intergenic non-protein coding RNA 402

long intergenic non-protein coding RNA 408

proteasome (prosome, macropain) 26S subunit, non-ATPase, 14

This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 11

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 10

This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 13

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

ATXN8 opposite strand (non-protein coding)

This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

long intergenic non-protein coding RNA 1510

This gene encodes a natural antisense transcript highly expressed in papillary thyroid carcinomas harboring BRAF V600E mutation or RET gene rearrangements. This lncRNA induces the downstream MAPK pathway and is part of a co-expression network including different oncogenes belonging to the MAPK and PI3H/AKT pathways. In thyroid carcinomas, this gene has oncogenic properties associated with increased proliferation and drug resistance. [provided by RefSeq, Jan 2020]

long intergenic non-protein coding RNA 1114

long intergenic non-protein coding RNA 1115

long intergenic non-protein coding RNA 1116

long intergenic non-protein coding RNA 1117

long intergenic non-protein coding RNA 1111

long intergenic non-protein coding RNA 1118

long intergenic non-protein coding RNA 1514

long intergenic non-protein coding RNA 244

long intergenic non-protein coding RNA 243

long intergenic non-protein coding RNA 242

long intergenic non-protein coding RNA 240

KCNQ1 downstream neighbor (non-protein coding)

Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]

T cell receptor beta variable 6-7 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 939

long intergenic non-protein coding RNA 938

long intergenic non-protein coding RNA 930

long intergenic non-protein coding RNA 933

long intergenic non-protein coding RNA 935

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and sperm flagellum. Predicted to be active in axonemal A tubule inner sheath. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 934

long intergenic non-protein coding RNA 937

long intergenic non-protein coding RNA 443

long intergenic non-protein coding RNA 1099

long intergenic non-protein coding RNA 322

long intergenic non-protein coding RNA 1327

long intergenic non-protein coding RNA 1324

long intergenic non-protein coding RNA 1322

long intergenic non-protein coding RNA 1320

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

inactivation escape 2 (non-protein coding)

inactivation escape 1 (non-protein coding)

X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010]

HLA complex group 18 (non-protein coding)

long intergenic non-protein coding RNA 433

long intergenic non-protein coding RNA 1424

long intergenic non-protein coding RNA 1425

long intergenic non-protein coding RNA 1426

long intergenic non-protein coding RNA 1427

long intergenic non-protein coding RNA 1420

Involved in negative regulation of cytoplasmic mRNA processing body assembly and nuclear-transcribed mRNA catabolic process. Located in P-body. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1422

long intergenic non-protein coding RNA 1423

long intergenic non-protein coding RNA 1428

family with sequence similarity 223, member A (non-protein coding)

long intergenic non-protein coding RNA 1280

long intergenic non-protein coding RNA 1281

long intergenic non-protein coding RNA 1282

long intergenic non-protein coding RNA 1284

long intergenic non-protein coding RNA 1285

long intergenic non-protein coding RNA 1287

long intergenic non-protein coding RNA 1288

long intergenic non-protein coding RNA 1289

long intergenic non-protein coding RNA 488

long intergenic non-protein coding RNA 484

long intergenic non-protein coding RNA 487

long intergenic non-protein coding RNA 486

long intergenic non-protein coding RNA 483

long intergenic non-protein coding RNA 482

T cell receptor beta variable 23/OR9-2 (non-functional)

long intergenic non-protein coding RNA 266-4, pseudogene

immunoglobulin lambda variable 5-48 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

sodium channel, non voltage gated 1 delta subunit

Enables sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and membrane. Part of sodium channel complex. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

sodium channel, non voltage gated 1 beta subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

sodium channel, non voltage gated 1 alpha subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

long intergenic non-protein coding RNA 1363

family with sequence similarity 225, member A (non-protein coding)

family with sequence similarity 225, member B (non-protein coding)

long intergenic non-protein coding RNA 526

long intergenic non-protein coding RNA 527

long intergenic non-protein coding RNA 524

long intergenic non-protein coding RNA 525

long intergenic non-protein coding RNA 523

long intergenic non-protein coding RNA 520

long intergenic non-protein coding RNA 521

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 528

long intergenic non-protein coding RNA 529

long intergenic non-protein coding RNA 1499

oligodendrocyte maturation-associated long intergenic non-coding RNA

immunoglobulin heavy variable 3-35 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-38 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 200

long intergenic non-protein coding RNA 207

gastric cancer associated transcript 3 (non-protein coding)

T cell receptor beta variable 7-1 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 52

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]

protein tyrosine phosphatase, non-receptor type 23

This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

protein tyrosine phosphatase, non-receptor type 20

The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

protein tyrosine phosphatase, non-receptor type 21

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 165

long intergenic non-protein coding RNA 1252

long intergenic non-protein coding RNA 1256

long intergenic non-protein coding RNA 1254

long intergenic non-protein coding RNA 1258

non-histone chromosome protein 1

long intergenic non-protein coding RNA 1590

long intergenic non-protein coding RNA 1591

long intergenic non-protein coding RNA 1592

long intergenic non-protein coding RNA 1594

long intergenic non-protein coding RNA 1599

long intergenic non-protein coding RNA 1046

long intergenic non-protein coding RNA 1047

long intergenic non-protein coding RNA 1044

long intergenic non-protein coding RNA 1043

long intergenic non-protein coding RNA 1040

long intergenic non-protein coding RNA 1049

long intergenic non-protein coding RNA 311

long intergenic non-protein coding RNA 310

long intergenic non-protein coding RNA 313

long intergenic non-protein coding RNA 312

This gene produces an intronless transcript that is thought to function as a tumor suppressor. This transcript is downregulated in nasopharyngeal carcinoma and is a negative regulator of estrogen receptor signaling. A common polymorphism in this transcript allows the production of a 94 aa open reading frame in some individuals, which may interact directly with estrogen receptor 1 (PMID:15474036). This open reading frame does not exist on the reference genome haplotype, which is hypothesized to function through a non-coding RNA product. [provided by RefSeq, Mar 2017]

long intergenic non-protein coding RNA 315

long intergenic non-protein coding RNA 314

long intergenic non-protein coding RNA 316

immunoglobulin kappa variable 3-7 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

taurine up-regulated 1 (non-protein coding)

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within several processes, including mitochondrion organization; photoreceptor cell development; and spermatogenesis. Predicted to be located in mitochondrial membrane and nuclear membrane. Predicted to be active in nucleus. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA, muscle differentiation 1

non-SMC condensin I complex, subunit G pseudogene

non-SMC condensin II complex, subunit H2

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]

long intergenic non-protein coding RNA, regulator of reprogramming

This gene produces a long non-coding RNA that regulates the reprogramming of pluripotent stem cells. This RNA suppresses induction of tumor protein p53 after DNA damage. It is thought to act as a sponge for microRNAs that regulate stem cell factors POU class 5 homeobox 1, Nanog, and SRY-box 2. This RNA may also have a extracellular role in modulating response to hypoxia in hepatocellular cancer cells. Expression of this transcript is associated with tumor progression and epithelial to mesenchymal transition and metastasis. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 571

long intergenic non-protein coding RNA 1209

long intergenic non-protein coding RNA 1201

long intergenic non-protein coding RNA 1202

long intergenic non-protein coding RNA 1203

long intergenic non-protein coding RNA 1204

long intergenic non-protein coding RNA 1205

long intergenic non-protein coding RNA 1206

long intergenic non-protein coding RNA 1207

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 25 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

long intergenic non-protein coding RNA 1452

CMT1A duplicated region transcript 7 (non-protein coding)

adenosine deaminase, RNA-specific, B2 (non-functional)

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1166

BST2 interferon stimulated positive regulator (non-protein coding)

long intergenic non-protein coding RNA 415

long intergenic non-protein coding RNA 411

T-cell leukemia/lymphoma 6 (non-protein coding)

spermatogenesis associated 41 (non-protein coding)

spermatogenesis associated 42 (non-protein coding)

immunoglobulin heavy variable 3/OR16-13 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1088

long intergenic non-protein coding RNA 1518

long intergenic non-protein coding RNA 1519

long intergenic non-protein coding RNA 1516

long intergenic non-protein coding RNA 391

long intergenic non-protein coding RNA 393

long intergenic non-protein coding RNA 392

long intergenic non-protein coding RNA 395

long intergenic non-protein coding RNA 396

long intergenic non-protein coding RNA 399

long intergenic non-protein coding RNA 398

mental retardation, non-syndromic, autosomal recessive, 17

mental retardation, non-syndromic, autosomal recessive, 11

mental retardation, non-syndromic, autosomal recessive, 19

prostate cancer associated transcript 6 (non-protein coding)

HLA complex group 4 (non-protein coding)

HLA complex group 9 (non-protein coding)

This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]

long intergenic non-protein coding RNA 152

This gene produces a long non-coding RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog 2 and participate in the transcriptional silencing of tumor suppressor genes. It may act as a sponge for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 159

long intergenic non-protein coding RNA 158

HAGLR opposite strand (non-protein coding)

long intergenic non-protein coding RNA 845

long intergenic non-protein coding RNA 844

long intergenic non-protein coding RNA 841

long intergenic non-protein coding RNA 840

long intergenic non-protein coding RNA 843

long intergenic non-protein coding RNA 842

long intergenic non-protein coding RNA 1495

long intergenic non-protein coding RNA 1494

long intergenic non-protein coding RNA 1497

long intergenic non-protein coding RNA 1496

long intergenic non-protein coding RNA 1493

long intergenic non-protein coding RNA 1492

long intergenic non-protein coding RNA 1498

X inactive specific transcript (non-protein coding)

X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]

E2F1-regulated inhibitor of cell death (non-protein coding)

long intergenic non-protein coding RNA 458

long intergenic non-protein coding RNA 459

long intergenic non-protein coding RNA 452

long intergenic non-protein coding RNA 456

long intergenic non-protein coding RNA 457

long intergenic non-protein coding RNA 454

long intergenic non-protein coding RNA 954

long intergenic non-protein coding RNA 1128

long intergenic non-protein coding RNA 1125

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1124

long intergenic non-protein coding RNA 1126

long intergenic non-protein coding RNA 1121

long intergenic non-protein coding RNA 1120

long intergenic non-protein coding RNA 1123

long intergenic non-protein coding RNA 1122

long intergenic non-protein coding RNA 298

long intergenic non-protein coding RNA 299

long intergenic non-protein coding RNA 294

long intergenic non-protein coding RNA 297

long intergenic non-protein coding RNA 293

immunoglobulin kappa variable 2D-24 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 364

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL proto-oncogene 2, non-receptor tyrosine kinase

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

T cell receptor gamma variable 10 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1402

long intergenic non-protein coding RNA 1024

immunoglobulin heavy variable 1/OR15-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-9 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 643

long intergenic non-protein coding RNA 642

long intergenic non-protein coding RNA 641

long intergenic non-protein coding RNA 640

long intergenic non-protein coding RNA 645

long intergenic non-protein coding RNA 644

long intergenic non-protein coding RNA 649

long intergenic non-protein coding RNA 648

long intergenic non-protein coding RNA 251

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)

Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]

protein tyrosine phosphatase, non-receptor type 11 pseudogene

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

mental retardation, non-syndromic, autosomal recessive, 8

ribonuclease, RNase A family, 11 (non-active)

Predicted to enable endonuclease activity and nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 10 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in several processes, including defense response to Gram-positive bacterium; positive regulation of flagellated sperm motility; and regulation of fertilization. Predicted to act upstream of or within epithelial cell morphogenesis; seminiferous tubule development; and single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 13 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 12 (non-active)

Predicted to enable RNA nuclease activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma P (non-functional)

HLA complex group 25 (non-protein coding)

HLA complex group 27 (non-protein coding)

long intergenic non-protein coding RNA 929

long intergenic non-protein coding RNA 603

long intergenic non-protein coding RNA 1419

long intergenic non-protein coding RNA 1415

long intergenic non-protein coding RNA 1416

long intergenic non-protein coding RNA 1411

long intergenic non-protein coding RNA 1413

long intergenic non-protein coding RNA 1412

DiGeorge syndrome critical region gene 9 (non-protein coding)

DiGeorge syndrome critical region gene 5 (non-protein coding)

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 504

long intergenic non-protein coding RNA 505

long intergenic non-protein coding RNA 506

long intergenic non-protein coding RNA 507

long intergenic non-protein coding RNA 501

long intergenic non-protein coding RNA 216

long intergenic non-protein coding RNA 210

long intergenic non-protein coding RNA 211

mental retardation, non-syndromic, autosomal recessive, 9

long intergenic non-protein coding RNA 967

long intergenic non-protein coding RNA 964

long intergenic non-protein coding RNA 965

long intergenic non-protein coding RNA 963

long intergenic non-protein coding RNA 960

long intergenic non-protein coding RNA 961

Involved in cellular response to amino acid stimulus and negative regulation of TORC1 signaling. Located in late endosome membrane and lysosomal proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1608

long intergenic non-protein coding RNA 1609

long intergenic non-protein coding RNA 1604

long intergenic non-protein coding RNA 1605

long intergenic non-protein coding RNA 1606

long intergenic non-protein coding RNA 1607

long intergenic non-protein coding RNA 1600

long intergenic non-protein coding RNA 1601

long intergenic non-protein coding RNA 1602

long intergenic non-protein coding RNA 1603

proteasome 26S subunit, non-ATPase, 10 pseudogene 3

proteasome 26S subunit, non-ATPase, 10 pseudogene 2

proteasome 26S subunit, non-ATPase, 10 pseudogene 1

long intergenic non-protein coding RNA 559

long intergenic non-protein coding RNA 558

long intergenic non-protein coding RNA 557

long intergenic non-protein coding RNA 556

long intergenic non-protein coding RNA 555

long intergenic non-protein coding RNA 552

long intergenic non-protein coding RNA 551

long intergenic non-protein coding RNA 550

long intergenic non-protein coding RNA 1337

cancer susceptibility candidate 2 (non-protein coding)

Involved in defense response to tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 6 (non-protein coding)

HLA complex group 21 (non-protein coding)

cancer susceptibility candidate 8 (non-protein coding)

HLA complex group 20 (non-protein coding)

HLA complex group 23 (non-protein coding)

long intergenic non-protein coding RNA 1375

long intergenic non-protein coding RNA 1376

long intergenic non-protein coding RNA 1377

long intergenic non-protein coding RNA 1370

long intergenic non-protein coding RNA 1378

promoter of MAT2A antisense radiation-induced circulating long non-coding RNA

Enables dsDNA-RNA triple helix-forming chromatin adaptor activity and mRNA binding activity. Involved in cellular response to ionizing radiation and regulatory ncRNA-mediated heterochromatin formation. Is active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1484

long intergenic non-protein coding RNA 28

long intergenic non-protein coding RNA 1483

long intergenic non-protein coding RNA 160

long intergenic non-protein coding RNA 1039

long intergenic non-protein coding RNA 1038

long intergenic non-protein coding RNA 1036

long intergenic non-protein coding RNA 1033

long intergenic non-protein coding RNA 1032

long intergenic non-protein coding RNA 1031

long intergenic non-protein coding RNA 1030

proteasome (prosome, macropain) 26S subunit, non-ATPase, 8

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 5

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 6

This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 1

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 3

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 2

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

JPX transcript, XIST activator (non-protein coding)

JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011]

cofilin 1 (non-muscle) pseudogene 4

cofilin 1 (non-muscle) pseudogene 5

cofilin 1 (non-muscle) pseudogene 6

cofilin 1 (non-muscle) pseudogene 7

cofilin 1 (non-muscle) pseudogene 1

cofilin 1 (non-muscle) pseudogene 2

cofilin 1 (non-muscle) pseudogene 3

cofilin 1 (non-muscle) pseudogene 8

long intergenic non-protein coding RNA 1410

cancer susceptibility candidate 18 (non-protein coding)

long intergenic non-protein coding RNA 1231

long intergenic non-protein coding RNA 1230

long intergenic non-protein coding RNA 1233

long intergenic non-protein coding RNA 1237

long intergenic non-protein coding RNA 184

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like

Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 189

prostate androgen-regulated transcript 1 (non-protein coding)

This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009]

T cell receptor alpha joining 19 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

H19, imprinted maternally expressed transcript (non-protein coding)

This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

long intergenic non-protein coding RNA 448

long stress-induced non-coding transcript 5

family with sequence similarity 230, member B (non-protein coding)

testis-specific transcript, Y-linked 23B (non-protein coding)

BRAF-activated non-protein coding RNA

This gene produces a long non-coding RNA that plays a role in tumor progression and epithelial to mesenchymal transition. This transcript acts through the MAP kinase signaling pathway. [provided by RefSeq, Dec 2017]

immunoglobulin lambda variable 1-50 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

psoriasis associated non-protein coding RNA induced by stress

long intergenic non-protein coding RNA 1179

long intergenic non-protein coding RNA 441

long intergenic non-protein coding RNA 440

long intergenic non-protein coding RNA 442

long intergenic non-protein coding RNA 445

long intergenic non-protein coding RNA 444

long intergenic non-protein coding RNA 446

long intergenic non-protein coding RNA 1234

long intergenic non-protein coding RNA 1239

T cell receptor beta joining 2-2P (non-functional)

long intergenic non-protein coding RNA 1521

long intergenic non-protein coding RNA 1520

long intergenic non-protein coding RNA 1525

long intergenic non-protein coding RNA 1524

long intergenic non-protein coding RNA 1527

long intergenic non-protein coding RNA 1529

long intergenic non-protein coding RNA 691

long intergenic non-protein coding RNA 692

long intergenic non-protein coding RNA 693

long intergenic non-protein coding RNA 698

long intergenic non-protein coding RNA 346

long intergenic non-protein coding RNA 347

long intergenic non-protein coding RNA 345

long intergenic non-protein coding RNA 342

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 343

long intergenic non-protein coding RNA 341

long intergenic non-protein coding RNA 348

PCGEM1, prostate-specific transcript (non-protein coding)

This gene produces a long non-coding RNA that is overexpressed in prostate cancer and may act a marker for tumor progression. This RNA may act a negative regulator of apoptosis, and may promote activity of androgen receptor and Myc. [provided by RefSeq, Dec 2017]

spectrin, beta, non-erythrocytic 5

Enables cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Mar 2025]

spectrin, beta, non-erythrocytic 4

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

spectrin, beta, non-erythrocytic 2

Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]

spectrin, beta, non-erythrocytic 1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

non-SMC condensin II complex, subunit G2

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

testis expressed 41 (non-protein coding)

long intergenic non-protein coding RNA 1543

long intergenic non-protein coding RNA 1541

long intergenic non-protein coding RNA 1544

long intergenic non-protein coding RNA 102

long intergenic non-protein coding RNA 290

FOXF1 adjacent non-coding developmental regulatory RNA

This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

long intergenic non-protein coding RNA 266-3

long intergenic non-protein coding RNA 266-1

non-protein coding RNA 250

long intergenic non-protein coding RNA 632

long intergenic non-protein coding RNA 634

Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

BMX non-receptor tyrosine kinase

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

sigma non-opioid intracellular receptor 1

This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]

long intergenic non-protein coding RNA 1176

long intergenic non-protein coding RNA 1177

long intergenic non-protein coding RNA 1069

long intergenic non-protein coding RNA 1065

mental retardation, non-syndromic, autosomal recessive, 25

Prader-Willi region non-protein coding RNA 1

This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009]

Prader-Willi region non-protein coding RNA 2

Prader-Willi region non-protein coding RNA 3

long intergenic non-protein coding RNA 862

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

non-SMC element 4 homolog A (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 333

long intergenic non-protein coding RNA 331

long intergenic non-protein coding RNA 1468

long intergenic non-protein coding RNA 1003

long intergenic non-protein coding RNA 618

long intergenic non-protein coding RNA 619

long intergenic non-protein coding RNA 610

long intergenic non-protein coding RNA 612

long intergenic non-protein coding RNA 613

long intergenic non-protein coding RNA 614

long intergenic non-protein coding RNA 615

long intergenic non-protein coding RNA 616

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1

long intergenic non-protein coding RNA 1435

protein tyrosine phosphatase, non-receptor type 3

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

mental retardation, non-syndromic, autosomal recessive, 4

testis-specific transcript, Y-linked 6B (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1151

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 968

long intergenic non-protein coding RNA 1005

long intergenic non-protein coding RNA 892

long intergenic non-protein coding RNA 893

long intergenic non-protein coding RNA 890

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 891

long intergenic non-protein coding RNA 896

long intergenic non-protein coding RNA 894

long intergenic non-protein coding RNA 895

long intergenic non-protein coding RNA 898

long intergenic non-protein coding RNA 899

eosinophil granule ontogeny transcript (non-protein coding)

Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 1-14 (non-functional)

long intergenic non-protein coding RNA 1442

long intergenic non-protein coding RNA 1443

long intergenic non-protein coding RNA 1440

long intergenic non-protein coding RNA 1446

long intergenic non-protein coding RNA 1447

long intergenic non-protein coding RNA 1444

long intergenic non-protein coding RNA 1445

long intergenic non-protein coding RNA 1448

long intergenic non-protein coding RNA 1449

myosin, light chain 12A, regulatory, non-sarcomeric

This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]

non-SMC condensin I complex, subunit G pseudogene

HLA complex group 26 (non-protein coding) pseudogene

HLA complex group 26 (non-protein coding) pseudogene

HLA complex group 26 (non-protein coding) pseudogene

protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) pseudogene

long intergenic non-protein coding RNA 229

long intergenic non-protein coding RNA 226

long intergenic non-protein coding RNA 221

long intergenic non-protein coding RNA 222

apoptotic BCL2L1-antisense long non-coding RNA

long intergenic non-protein coding RNA 917

long intergenic non-protein coding RNA 911

long intergenic non-protein coding RNA 910

long intergenic non-protein coding RNA 1515

disrupted in schizophrenia 2 (non-protein coding)

DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002]

immunoglobulin heavy diversity 4-11 (non-functional)

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

psoriasis susceptibility 1 candidate 3 (non-protein coding)

long intergenic non-protein coding RNA 1349

long intergenic non-protein coding RNA 1344

long intergenic non-protein coding RNA 1347

long intergenic non-protein coding RNA 1346

long intergenic non-protein coding RNA 1341

long intergenic non-protein coding RNA 1340

long intergenic non-protein coding RNA 1343

long intergenic non-protein coding RNA 1342

long intergenic non-protein coding RNA 1264

immunoglobulin kappa variable 6D-41 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 2 pseudogene 2

immunoglobulin heavy variable 4/OR15-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 710

immunoglobulin lambda variable 3-32 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 7 (non-protein coding)

long intergenic non-protein coding RNA 498

long intergenic non-protein coding RNA 499

cancer susceptibility candidate 9 (non-protein coding)

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

non-histone chromosomal protein HMG-17 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

T cell receptor beta variable 17 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 997

long intergenic non-protein coding RNA 994

long intergenic non-protein coding RNA 993

long intergenic non-protein coding RNA 992

long intergenic non-protein coding RNA 999

long intergenic non-protein coding RNA 998

Involved in negative regulation of type I interferon-mediated signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

non-SMC condensin I complex, subunit H

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

non-SMC condensin I complex, subunit G

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

non-POU domain containing, octamer-binding

This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]

long intergenic non-protein coding RNA 508

long intergenic non-protein coding RNA 502

long intergenic non-protein coding RNA 696

non-insulin-dependent diabetes mellitus (common, type 2) 2

non-insulin-dependent diabetes mellitus (common, type 2) 1

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

cancer susceptibility candidate 11 (non-protein coding)

Enables chromatin-protein adaptor activity and promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 17 (non-protein coding)

cancer susceptibility candidate 16 (non-protein coding)

cancer susceptibility candidate 15 (non-protein coding)

This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]

cancer susceptibility candidate 19 (non-protein coding)

immunoglobulin heavy variable 3-16 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 2 (non-protein coding)

testis-specific transcript, Y-linked 3 (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 1 (non-protein coding)

testis-specific transcript, Y-linked 6 (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 7 (non-protein coding)

testis-specific transcript, Y-linked 4 (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 5 (non-protein coding)

There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 8 (non-protein coding)

long intergenic non-protein coding RNA 317

protein tyrosine phosphatase, non-receptor type 11 pseudogene

metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)

This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

long intergenic non-protein coding RNA 1372

long intergenic non-protein coding RNA 1068

long intergenic non-protein coding RNA 1060

long intergenic non-protein coding RNA 1061

long intergenic non-protein coding RNA 1063

long intergenic non-protein coding RNA 339

long intergenic non-protein coding RNA 337

long intergenic non-protein coding RNA 336

long intergenic non-protein coding RNA 334

long intergenic non-protein coding RNA 330

protein tyrosine phosphatase, non-receptor type 9

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]

protein tyrosine phosphatase, non-receptor type 2

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]

protein tyrosine phosphatase, non-receptor type 1

The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

protein tyrosine phosphatase, non-receptor type 7

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]

protein tyrosine phosphatase, non-receptor type 6

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]

protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)

Enables phosphotyrosine residue binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within protein dephosphorylation. Predicted to be located in membrane and nucleoplasm. Predicted to be active in cell junction; cytosol; and plasma membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]

non-protein coding RNA, associated with MAP kinase pathway and growth arrest

long intergenic non-protein coding RNA 1220

long intergenic non-protein coding RNA 29

X active specific transcript (non-protein coding)

This gene produces a spliced long non-coding RNA that is thought to play a role in the control of X-chromosome inactivation (XCI). This transcript has been shown to specifically coat the active X chromosome in human pluripotent cells. [provided by RefSeq, Mar 2015]

long intergenic non-protein coding RNA 674

long intergenic non-protein coding RNA 1268

long intergenic non-protein coding RNA 1266

long intergenic non-protein coding RNA 1267

long intergenic non-protein coding RNA 1265

long intergenic non-protein coding RNA 1260

long intergenic non-protein coding RNA 1232

long intergenic non-protein coding RNA 94

non-protein coding RNA, repressor of NFAT

Predicted to act upstream of or within negative regulation of dephosphorylation; regulation of calcineurin-NFAT signaling cascade; and regulation of cytokine production. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B

Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide catabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1384

long intergenic non-protein coding RNA 587

long intergenic non-protein coding RNA 581

long intergenic non-protein coding RNA 582

long intergenic non-protein coding RNA 583

long intergenic non-protein coding RNA 588

long intergenic non-protein coding RNA 589

long intergenic non-protein coding RNA 1189

long intergenic non-protein coding RNA 1183

long intergenic non-protein coding RNA 1182

long intergenic non-protein coding RNA 1181

long intergenic non-protein coding RNA 1187

long intergenic non-protein coding RNA 1186

long intergenic non-protein coding RNA 1185

long intergenic non-protein coding RNA, p53 induced transcript

Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 378

COPG2 imprinted transcript 1 (non-protein coding)

long intergenic non-protein coding RNA 1119

long intergenic non-protein coding RNA 1578

Predicted to be involved in several processes, including adipose tissue development; regulation of gene expression; and thymus development. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1579

long intergenic non-protein coding RNA 1574

long intergenic non-protein coding RNA 1572

long intergenic non-protein coding RNA 1573

long intergenic non-protein coding RNA 1570

long intergenic non-protein coding RNA 1571

long intergenic non-protein coding RNA 1398

long intergenic non-protein coding RNA 1399

long intergenic non-protein coding RNA 1392

long intergenic non-protein coding RNA 1393

long intergenic non-protein coding RNA 1391

long intergenic non-protein coding RNA 1396

long intergenic non-protein coding RNA 1397

long intergenic non-protein coding RNA 1395

long intergenic non-protein coding RNA 621

long intergenic non-protein coding RNA 620

long intergenic non-protein coding RNA 623

long intergenic non-protein coding RNA 624

long intergenic non-protein coding RNA 626

long intergenic non-protein coding RNA 629

long intergenic non-protein coding RNA 628

protein tyrosine phosphatase, non-receptor type 11 pseudogene

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

mental retardation, non-syndromic, autosomal recessive, 27

proteasome (prosome, macropain) 26S subunit, non-ATPase, 9

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]

long intergenic non-protein coding RNA 265-2, pseudogene

long intergenic non-protein coding RNA 869

long intergenic non-protein coding RNA 868

long intergenic non-protein coding RNA 867

long intergenic non-protein coding RNA 866

long intergenic non-protein coding RNA 1180

long intergenic non-protein coding RNA 1184

long intergenic non-protein coding RNA 936

non-SMC element 4 homolog A (S. cerevisiae) pseudogene

colon cancer associated transcript 2 (non-protein coding)

This gene produces a long non-coding RNA that is upregulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It negatively regulates the biogenesis of microRNA 145. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 470

long intergenic non-protein coding RNA 472

long intergenic non-protein coding RNA 473

Involved in DNA-templated transcription. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 474

long intergenic non-protein coding RNA 475

long intergenic non-protein coding RNA 476

long intergenic non-protein coding RNA 477

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 479

long intergenic non-protein coding RNA 1103

long intergenic non-protein coding RNA 1102

long intergenic non-protein coding RNA 1101

long intergenic non-protein coding RNA 1100

long intergenic non-protein coding RNA 1107

long intergenic non-protein coding RNA 1106

long intergenic non-protein coding RNA 1105

long intergenic non-protein coding RNA 1104

long intergenic non-protein coding RNA 1109

long intergenic non-protein coding RNA 1108

D4Z4 binding element transcript (non-protein coding)

long intergenic non-protein coding RNA 278

long intergenic non-protein coding RNA 279

long intergenic non-protein coding RNA 708

long intergenic non-protein coding RNA 709

long intergenic non-protein coding RNA 702

HLA complex group 24 (non-protein coding)

HLA complex group 26 (non-protein coding)

proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 pseudogene

long intergenic non-protein coding RNA 1312

long intergenic non-protein coding RNA 1310

long intergenic non-protein coding RNA 1311

long intergenic non-protein coding RNA 1314

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1315

testis-specific transcript, Y-linked 14 (non-protein coding)

testis-specific transcript, Y-linked 15 (non-protein coding)

testis-specific transcript, Y-linked 16 (non-protein coding)

testis-specific transcript, Y-linked 10 (non-protein coding)

testis-specific transcript, Y-linked 11 (non-protein coding)

testis-specific transcript, Y-linked 12 (non-protein coding)

testis-specific transcript, Y-linked 13 (non-protein coding)

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 18 (non-protein coding)

testis-specific transcript, Y-linked 19 (non-protein coding)

testis-specific transcript, Y-linked 1B (non-protein coding)

papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)

papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding)

long intergenic non-protein coding RNA 1235

ribonuclease, RNase A family, 9 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to act upstream of or within positive regulation of flagellated sperm motility involved in capacitation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1433

long intergenic non-protein coding RNA 1432

long intergenic non-protein coding RNA 1431

long intergenic non-protein coding RNA 1430

long intergenic non-protein coding RNA 1299

long intergenic non-protein coding RNA 1293

long intergenic non-protein coding RNA 1291

cancer susceptibility candidate 23 (non-protein coding)

long intergenic non-protein coding RNA 1165

MER1 repeat containing imprinted transcript 1 (non-protein coding)

family with sequence similarity 99, member A (non-protein coding)

family with sequence similarity 99, member B (non-protein coding)

hydatidiform mole associated and imprinted (non-protein coding)

This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

urothelial cancer associated 1 (non-protein coding)

This gene produces a long non-coding RNA that was found to be upregulated in bladder cancer and plays a regulatory role in cell proliferation. This transcript regulates several genes, including CREB (cAMP responsive element binding protein). Expression of this transcript is regulated by CCAAT/enhancer-binding protein-alpha. [provided by RefSeq, Dec 2017]

immunoglobulin heavy variable 3/OR16-12 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-10 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 944

long intergenic non-protein coding RNA 945

long intergenic non-protein coding RNA 941

Enables promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 942

long intergenic non-protein coding RNA 943

family with sequence similarity 224, member B (non-protein coding)

This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

family with sequence similarity 224, member A (non-protein coding)

This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

ovarian adenocarcinoma amplified long non-coding RNA

Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in mRNA branch site recognition. Predicted to be part of U2 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 535

long intergenic non-protein coding RNA 534

long intergenic non-protein coding RNA 537

Predicted to be a structural constituent of ribosome. Predicted to be located in ribosome. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 536

long intergenic non-protein coding RNA 533

long intergenic non-protein coding RNA 539

long intergenic non-protein coding RNA 538

cancer susceptibility candidate 22 (non-protein coding)

cancer susceptibility candidate 20 (non-protein coding)

cancer susceptibility candidate 21 (non-protein coding)

testis-specific transcript, Y-linked 9A (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 9B (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

tumor protein p53 pathway corepressor 1 (non-protein coding)

Predicted to act upstream of or within negative regulation of gene expression. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

myosin, light chain 6, alkali, smooth muscle and non-muscle

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1588

long intergenic non-protein coding RNA 1585

long intergenic non-protein coding RNA 1583

long intergenic non-protein coding RNA 1582

long intergenic non-protein coding RNA 1581

long intergenic non-protein coding RNA 1580

long intergenic non-protein coding RNA 1055

long intergenic non-protein coding RNA 1057

long intergenic non-protein coding RNA 1056

long intergenic non-protein coding RNA 1050

long intergenic non-protein coding RNA 1053

long intergenic non-protein coding RNA 1059

long intergenic non-protein coding RNA 1217

long intergenic non-protein coding RNA 1216

long intergenic non-protein coding RNA 1210

long intergenic non-protein coding RNA 1219

long intergenic non-protein coding RNA 1218

TP53 target 1 (non-protein coding)

long intergenic non-protein coding RNA 1213

antisense of IGF2R non-protein coding RNA

Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013]

T cell receptor alpha joining 35 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

olfactory receptor, family 10, subfamily D, member 3 (non-functional)

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

immunoglobulin lambda variable 2-33 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 21B (non-protein coding)

long intergenic non-protein coding RNA 328-2, pseudogene

long intergenic non-protein coding RNA 1298

long intergenic non-protein coding RNA 1296

T cell receptor beta variable 20/OR9-2 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

Down syndrome critical region 9 (non-protein coding)

non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)

Predicted to contribute to ubiquitin protein ligase activity. Involved in positive regulation of cell population proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 1507

long intergenic non-protein coding RNA 1506

long intergenic non-protein coding RNA 1505

long intergenic non-protein coding RNA 1503

long intergenic non-protein coding RNA 1502

long intergenic non-protein coding RNA 1501

long intergenic non-protein coding RNA 1500

long intergenic non-protein coding RNA 1509

long intergenic non-protein coding RNA 1508

MIAT neighbor (non-protein coding)

long intergenic non-protein coding RNA 368

long intergenic non-protein coding RNA 365

long intergenic non-protein coding RNA 366

long intergenic non-protein coding RNA 367