psui3905/ncbi_genes_summary huggingface dataset:
GJB7, Official Symbol GJB7provided by HGNC Official Full Name gap junction protein beta 7provided by HGNC Primary source HGNC:HGNC:16690 See related Ensembl:ENSG00000164411 MIM:611921; AllianceGenome:HGNC:16690 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CX25; bA136M9.1; connexin25 Summary Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] Expression Biased expression in placenta (RPKM 1.2), lung (RPKM 0.3) and 3 other tissues See more Orthologs all
GJC1, Official Symbol GJC1provided by HGNC Official Full Name gap junction protein gamma 1provided by HGNC Primary source HGNC:HGNC:4280 See related Ensembl:ENSG00000182963 MIM:608655; AllianceGenome:HGNC:4280 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CX45; GJA7 Summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 8.2), placenta (RPKM 7.4) and 14 other tissues See more Orthologs mouse all
GJC2, Official Symbol GJC2provided by HGNC Official Full Name gap junction protein gamma 2provided by HGNC Primary source HGNC:HGNC:17494 See related Ensembl:ENSG00000198835 MIM:608803; AllianceGenome:HGNC:17494 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR Summary This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 4.2), endometrium (RPKM 1.5) and 19 other tissues See more Orthologs mouse all
GJC3, Official Symbol GJC3provided by HGNC Official Full Name gap junction protein gamma 3provided by HGNC Primary source HGNC:HGNC:17495 See related Ensembl:ENSG00000176402 MIM:611925; AllianceGenome:HGNC:17495 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CX29; GJE1; CX30.2; CX31.3 Summary This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010] Expression Broad expression in prostate (RPKM 2.6), pancreas (RPKM 1.5) and 14 other tissues See more Orthologs mouse all
GJD2, Official Symbol GJD2provided by HGNC Official Full Name gap junction protein delta 2provided by HGNC Primary source HGNC:HGNC:19154 See related Ensembl:ENSG00000159248 MIM:607058; AllianceGenome:HGNC:19154 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CX36; GJA9 Summary This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012] Expression Biased expression in adrenal (RPKM 3.4), brain (RPKM 0.8) and 3 other tissues See more Orthologs mouse all
GJD3, Official Symbol GJD3provided by HGNC Official Full Name gap junction protein delta 3provided by HGNC Primary source HGNC:HGNC:19147 See related Ensembl:ENSG00000183153 MIM:607425; AllianceGenome:HGNC:19147 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GJC1; GJA11; CX31.9; Cx30.2 Summary This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008] Orthologs mouse all
GJD4, Official Symbol GJD4provided by HGNC Official Full Name gap junction protein delta 4provided by HGNC Primary source HGNC:HGNC:23296 See related Ensembl:ENSG00000177291 MIM:611922; AllianceGenome:HGNC:23296 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CX40.1 Summary Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GJE1, Official Symbol GJE1provided by HGNC Official Full Name gap junction protein epsilon 1provided by HGNC Primary source HGNC:HGNC:33251 See related Ensembl:ENSG00000203733 AllianceGenome:HGNC:33251 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CX23 Summary Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell morphogenesis; lens development in camera-type eye; and organ growth. Predicted to be integral component of membrane. Predicted to be part of connexin complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
GK, Official Symbol GKprovided by HGNC Official Full Name glycerol kinaseprovided by HGNC Primary source HGNC:HGNC:4289 See related Ensembl:ENSG00000198814 MIM:300474; AllianceGenome:HGNC:4289 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GK1; GKD Summary The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Expression Broad expression in kidney (RPKM 27.5), small intestine (RPKM 25.1) and 18 other tissues See more Orthologs mouse all
GK-IT1, Official Symbol GK-IT1provided by HGNC Official Full Name GK intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41339 See related AllianceGenome:HGNC:41339 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
GK2, Official Symbol GK2provided by HGNC Official Full Name glycerol kinase 2provided by HGNC Primary source HGNC:HGNC:4291 See related Ensembl:ENSG00000196475 MIM:600148; AllianceGenome:HGNC:4291 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GKP2; GKTA Summary Predicted to enable glycerol kinase activity. Predicted to be involved in several processes, including glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
GK5, Official Symbol GK5provided by HGNC Official Full Name glycerol kinase 5provided by HGNC Primary source HGNC:HGNC:28635 See related Ensembl:ENSG00000175066 AllianceGenome:HGNC:28635 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable glycerol kinase activity. Predicted to be involved in several processes, including glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 6.0), duodenum (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
GKAP1, Official Symbol GKAP1provided by HGNC Official Full Name G kinase anchoring protein 1provided by HGNC Primary source HGNC:HGNC:17496 See related Ensembl:ENSG00000165113 MIM:611356; AllianceGenome:HGNC:17496 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKSG21; GKAP42 Summary This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in testis (RPKM 88.6) and ovary (RPKM 4.2) See more Orthologs mouse all
GKN1, Official Symbol GKN1provided by HGNC Official Full Name gastrokine 1provided by HGNC Primary source HGNC:HGNC:23217 See related Ensembl:ENSG00000169605 MIM:606402; AllianceGenome:HGNC:23217 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FOV; CA11; AMP18; BRICD1; foveolin Summary The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008] Expression Restricted expression toward stomach (RPKM 11425.3) See more Orthologs all
GKN2, Official Symbol GKN2provided by HGNC Official Full Name gastrokine 2provided by HGNC Primary source HGNC:HGNC:24588 See related Ensembl:ENSG00000183607 MIM:618589; AllianceGenome:HGNC:24588 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GDDR; TFIZ1; PRO813; BRICD1B; VLTI465 Summary The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015] Expression Restricted expression toward stomach (RPKM 1463.9) See more Orthologs mouse all
GKN3P, Official Symbol GKN3Pprovided by HGNC Official Full Name gastrokine 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:37701 See related AllianceGenome:HGNC:37701 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in regulation of cell population proliferation. Predicted to act upstream of or within negative regulation of epithelial cell proliferation. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
GLA, Official Symbol GLAprovided by HGNC Official Full Name galactosidase alphaprovided by HGNC Primary source HGNC:HGNC:4296 See related Ensembl:ENSG00000102393 MIM:300644; AllianceGenome:HGNC:4296 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GALA Summary This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 16.8), placenta (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
GLB1, Official Symbol GLB1provided by HGNC Official Full Name galactosidase beta 1provided by HGNC Primary source HGNC:HGNC:4298 See related Ensembl:ENSG00000170266 MIM:611458; AllianceGenome:HGNC:4298 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBP; ELNR1; MPS4B Summary This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in thyroid (RPKM 28.5), placenta (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
GLB1L, Official Symbol GLB1Lprovided by HGNC Official Full Name galactosidase beta 1 likeprovided by HGNC Primary source HGNC:HGNC:28129 See related Ensembl:ENSG00000163521 AllianceGenome:HGNC:28129 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable beta-galactosidase activity. Predicted to be involved in carbohydrate metabolic process. Predicted to be located in extracellular region. Predicted to be active in vacuole. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 35.1), kidney (RPKM 6.9) and 17 other tissues See more Orthologs mouse all
GLB1L2, Official Symbol GLB1L2provided by HGNC Official Full Name galactosidase beta 1 like 2provided by HGNC Primary source HGNC:HGNC:25129 See related Ensembl:ENSG00000149328 AllianceGenome:HGNC:25129 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MST114; MSTP114 Summary Predicted to enable beta-galactosidase activity. Predicted to be involved in carbohydrate metabolic process. Predicted to be located in extracellular region. Predicted to be active in vacuole. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 28.1), thyroid (RPKM 21.3) and 17 other tissues See more Orthologs mouse all
GLB1L3, Official Symbol GLB1L3provided by HGNC Official Full Name galactosidase beta 1 like 3provided by HGNC Primary source HGNC:HGNC:25147 See related Ensembl:ENSG00000166105 AllianceGenome:HGNC:25147 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable beta-galactosidase activity. Predicted to be involved in carbohydrate metabolic process. Predicted to be active in vacuole. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 3.4), testis (RPKM 1.2) and 7 other tissues See more Orthologs mouse all
GLCCI1, Official Symbol GLCCI1provided by HGNC Official Full Name glucocorticoid induced 1provided by HGNC Primary source HGNC:HGNC:18713 See related Ensembl:ENSG00000106415 MIM:614283; AllianceGenome:HGNC:18713 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCTR; GIG18; TSSN1; FAM117C Summary This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012] Expression Broad expression in thyroid (RPKM 12.0), testis (RPKM 9.8) and 24 other tissues See more Orthologs mouse all
GLCCI1-DT, Official Symbol GLCCI1-DTprovided by HGNC Official Full Name GLCCI1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:40852 See related AllianceGenome:HGNC:40852 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 7.4) and thyroid (RPKM 0.4) See more
GLCE, Official Symbol GLCEprovided by HGNC Official Full Name glucuronic acid epimeraseprovided by HGNC Primary source HGNC:HGNC:17855 See related Ensembl:ENSG00000138604 MIM:612134; AllianceGenome:HGNC:17855 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSEPI Summary Enables calcium ion binding activity; heparosan-N-sulfate-glucuronate 5-epimerase activity; and protein homodimerization activity. Involved in heparan sulfate proteoglycan biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 5.9), duodenum (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
GLDC, Official Symbol GLDCprovided by HGNC Official Full Name glycine decarboxylaseprovided by HGNC Primary source HGNC:HGNC:4313 See related Ensembl:ENSG00000178445 MIM:238300; AllianceGenome:HGNC:4313 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCE; GCE1; GCSP; HYGN1 Summary Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010] Expression Biased expression in kidney (RPKM 25.8), placenta (RPKM 17.4) and 4 other tissues See more Orthologs mouse all
GLDN, Official Symbol GLDNprovided by HGNC Official Full Name gliomedinprovided by HGNC Primary source HGNC:HGNC:29514 See related Ensembl:ENSG00000186417 MIM:608603; AllianceGenome:HGNC:29514 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLOM; COLM; CRGL2; CRG-L2; LCCS11; UNC-112; UNC-122 Summary This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017] Expression Biased expression in brain (RPKM 4.5), fat (RPKM 3.3) and 12 other tissues See more Orthologs mouse all
GLE1, Official Symbol GLE1provided by HGNC Official Full Name GLE1 RNA export mediatorprovided by HGNC Primary source HGNC:HGNC:4315 See related Ensembl:ENSG00000119392 MIM:603371; AllianceGenome:HGNC:4315 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCCS; CAAHC; CAAHD; GLE1L; LCCS1; hGLE1 Summary This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 19.5), lymph node (RPKM 9.2) and 24 other tissues See more Orthologs mouse all
GLG1, Official Symbol GLG1provided by HGNC Official Full Name golgi glycoprotein 1provided by HGNC Primary source HGNC:HGNC:4316 See related Ensembl:ENSG00000090863 MIM:600753; AllianceGenome:HGNC:4316 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CFR-1; ESL-1; MG160; MG-160 Summary Predicted to enable fibroblast growth factor binding activity. Predicted to act upstream of or within several processes, including negative regulation of protein processing; negative regulation of transforming growth factor beta receptor signaling pathway; and regulation of chondrocyte differentiation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 26.0), testis (RPKM 23.5) and 25 other tissues See more Orthologs mouse all
GLI1, Official Symbol GLI1provided by HGNC Official Full Name GLI family zinc finger 1provided by HGNC Primary source HGNC:HGNC:4317 See related Ensembl:ENSG00000111087 MIM:165220; AllianceGenome:HGNC:4317 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLI; PPD1; PAPA8 Summary This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Broad expression in endometrium (RPKM 5.6), testis (RPKM 2.9) and 15 other tissues See more Orthologs mouse all
GLI2, Official Symbol GLI2provided by HGNC Official Full Name GLI family zinc finger 2provided by HGNC Primary source HGNC:HGNC:4318 See related Ensembl:ENSG00000074047 MIM:165230; AllianceGenome:HGNC:4318 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CJS; HPE9; PHS2; THP1; THP2 Summary This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 2.5), endometrium (RPKM 1.2) and 19 other tissues See more Orthologs mouse all
GLI3, Official Symbol GLI3provided by HGNC Official Full Name GLI family zinc finger 3provided by HGNC Primary source HGNC:HGNC:4319 See related Ensembl:ENSG00000106571 MIM:165240; AllianceGenome:HGNC:4319 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; GLI3FL; GLI3-190 Summary This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 4.0), endometrium (RPKM 3.1) and 22 other tissues See more Orthologs mouse all
GLI4, Official Symbol GLI4provided by HGNC Official Full Name GLI family zinc finger 4provided by HGNC Primary source HGNC:HGNC:4320 See related Ensembl:ENSG00000250571 MIM:165280; AllianceGenome:HGNC:4320 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HKR4; ZNF928 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 5.3), spleen (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
GLIDR, Official Symbol GLIDRprovided by HGNC Official Full Name glioblastoma down-regulated RNAprovided by HGNC Primary source HGNC:HGNC:48823 See related Ensembl:ENSG00000278175 AllianceGenome:HGNC:48823 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM88A; LINC01172; TCONS_00015562 Expression Ubiquitous expression in thyroid (RPKM 3.8), brain (RPKM 3.6) and 25 other tissues See more
GLIPR1, Official Symbol GLIPR1provided by HGNC Official Full Name GLI pathogenesis related 1provided by HGNC Primary source HGNC:HGNC:17001 See related Ensembl:ENSG00000139278 MIM:602692; AllianceGenome:HGNC:17001 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLIPR; RTVP1; CRISP7 Summary This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 29.8), gall bladder (RPKM 25.1) and 24 other tissues See more Orthologs mouse all
GLIPR1L1, Official Symbol GLIPR1L1provided by HGNC Official Full Name GLIPR1 like 1provided by HGNC Primary source HGNC:HGNC:28392 See related Ensembl:ENSG00000173401 MIM:610395; AllianceGenome:HGNC:28392 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRO7434; ALKN2972 Summary Predicted to be involved in single fertilization. Predicted to act upstream of or within binding activity of sperm to zona pellucida. Predicted to be located in sperm connecting piece. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.4) and fat (RPKM 0.2) See more Orthologs mouse all
GLIPR1L2, Official Symbol GLIPR1L2provided by HGNC Official Full Name GLIPR1 like 2provided by HGNC Primary source HGNC:HGNC:28592 See related Ensembl:ENSG00000180481 MIM:610394; AllianceGenome:HGNC:28592 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Biased expression in testis (RPKM 10.0), ovary (RPKM 1.3) and 3 other tissues See more Orthologs mouse all
GLIPR2, Official Symbol GLIPR2provided by HGNC Official Full Name GLI pathogenesis related 2provided by HGNC Primary source HGNC:HGNC:18007 See related Ensembl:ENSG00000122694 MIM:607141; AllianceGenome:HGNC:18007 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GAPR1; GAPR-1; C9orf19 Summary Enables protein homodimerization activity. Involved in positive regulation of ERK1 and ERK2 cascade; positive regulation of epithelial cell migration; and positive regulation of epithelial to mesenchymal transition. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 23.8), appendix (RPKM 20.8) and 24 other tissues See more Orthologs mouse all
GLIS1, Official Symbol GLIS1provided by HGNC Official Full Name GLIS family zinc finger 1provided by HGNC Primary source HGNC:HGNC:29525 See related Ensembl:ENSG00000174332 MIM:610378; AllianceGenome:HGNC:29525 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GLIS2, Official Symbol GLIS2provided by HGNC Official Full Name GLIS family zinc finger 2provided by HGNC Primary source HGNC:HGNC:29450 See related Ensembl:ENSG00000126603 MIM:608539; AllianceGenome:HGNC:29450 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NKL; NPHP7 Summary This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010] Expression Broad expression in kidney (RPKM 14.7), lung (RPKM 9.3) and 23 other tissues See more Orthologs mouse all
GLIS2-AS1, Official Symbol GLIS2-AS1provided by HGNC Official Full Name GLIS2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51381 See related Ensembl:ENSG00000262686 AllianceGenome:HGNC:51381 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GLIS3, Official Symbol GLIS3provided by HGNC Official Full Name GLIS family zinc finger 3provided by HGNC Primary source HGNC:HGNC:28510 See related Ensembl:ENSG00000107249 MIM:610192; AllianceGenome:HGNC:28510 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NDH; ZNF515 Summary This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in thyroid (RPKM 8.8), gall bladder (RPKM 2.6) and 13 other tissues See more Orthologs mouse all
GLIS3-AS1, Official Symbol GLIS3-AS1provided by HGNC Official Full Name GLIS3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28260 See related Ensembl:ENSG00000237009 AllianceGenome:HGNC:28260 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C9orf70 Expression Broad expression in thyroid (RPKM 3.6), gall bladder (RPKM 1.0) and 17 other tissues See more
GLMN, Official Symbol GLMNprovided by HGNC Official Full Name glomulin, FKBP associated proteinprovided by HGNC Primary source HGNC:HGNC:14373 See related Ensembl:ENSG00000174842 MIM:601749; AllianceGenome:HGNC:14373 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAP; GVM; GLML; FAP48; FAP68; FKBPAP; VMGLOM Summary This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in testis (RPKM 3.2), brain (RPKM 2.5) and 24 other tissues See more Orthologs mouse all
GLMP, Official Symbol GLMPprovided by HGNC Official Full Name glycosylated lysosomal membrane proteinprovided by HGNC Primary source HGNC:HGNC:29436 See related Ensembl:ENSG00000198715 MIM:619958; AllianceGenome:HGNC:29436 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCU-G1; C1orf85; lnc-UCID Summary Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; lysosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 30.2), placenta (RPKM 24.2) and 25 other tissues See more Orthologs mouse all
GLO1, Official Symbol GLO1provided by HGNC Official Full Name glyoxalase Iprovided by HGNC Primary source HGNC:HGNC:4323 See related Ensembl:ENSG00000124767 MIM:138750; AllianceGenome:HGNC:4323 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLYI; GLOD1; HEL-S-74 Summary The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 115.6), duodenum (RPKM 59.9) and 24 other tissues See more Orthologs mouse all
GLOD4, Official Symbol GLOD4provided by HGNC Official Full Name glyoxalase domain containing 4provided by HGNC Primary source HGNC:HGNC:14111 See related Ensembl:ENSG00000167699 AllianceGenome:HGNC:14111 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HC6; HC71; CGI-150; C17orf25 Summary Enables cadherin binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 28.9), duodenum (RPKM 28.6) and 25 other tissues See more Orthologs mouse all
GLOD5, Official Symbol GLOD5provided by HGNC Official Full Name glyoxalase domain containing 5provided by HGNC Primary source HGNC:HGNC:33358 See related Ensembl:ENSG00000171433 MIM:301112; AllianceGenome:HGNC:33358 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011] Expression Biased expression in duodenum (RPKM 3.2), small intestine (RPKM 2.9) and 6 other tissues See more Orthologs mouse all
GLP1R, Official Symbol GLP1Rprovided by HGNC Official Full Name glucagon like peptide 1 receptorprovided by HGNC Primary source HGNC:HGNC:4324 See related Ensembl:ENSG00000112164 MIM:138032; AllianceGenome:HGNC:4324 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLP-1; GLP-1R; GLP-1-R Summary This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016] Expression Biased expression in heart (RPKM 1.0), brain (RPKM 1.0) and 10 other tissues See more Orthologs mouse all
GLP2R, Official Symbol GLP2Rprovided by HGNC Official Full Name glucagon like peptide 2 receptorprovided by HGNC Primary source HGNC:HGNC:4325 See related Ensembl:ENSG00000065325 MIM:603659; AllianceGenome:HGNC:4325 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a G protein-coupled receptor that is closely related to the glucagon receptor and binds to glucagon-like peptide-2 (GLP2). Signalling through GLP2 stimulates intestinal growth and increases villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014] Expression Biased expression in gall bladder (RPKM 4.7), small intestine (RPKM 2.6) and 8 other tissues See more Orthologs mouse all
GLRA1, Official Symbol GLRA1provided by HGNC Official Full Name glycine receptor alpha 1provided by HGNC Primary source HGNC:HGNC:4326 See related Ensembl:ENSG00000145888 MIM:138491; AllianceGenome:HGNC:4326 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STHE; HKPX1 Summary The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
GLRA2, Official Symbol GLRA2provided by HGNC Official Full Name glycine receptor alpha 2provided by HGNC Primary source HGNC:HGNC:4327 See related Ensembl:ENSG00000101958 MIM:305990; AllianceGenome:HGNC:4327 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLR; MRXSP Summary The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] Expression Biased expression in brain (RPKM 1.9) and colon (RPKM 0.8) See more Orthologs mouse all
GLRA3, Official Symbol GLRA3provided by HGNC Official Full Name glycine receptor alpha 3provided by HGNC Primary source HGNC:HGNC:4328 See related Ensembl:ENSG00000145451 MIM:600421; AllianceGenome:HGNC:4328 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Expression Biased expression in brain (RPKM 2.6), adrenal (RPKM 0.4) and 1 other tissue See more Orthologs mouse all