psui3905/ncbi_genes_summary huggingface dataset:
CHRAC1, Official Symbol CHRAC1provided by HGNC Official Full Name chromatin accessibility complex subunit 1provided by HGNC Primary source HGNC:HGNC:13544 See related Ensembl:ENSG00000104472 MIM:607268; AllianceGenome:HGNC:13544 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 YCL1; CHARC1; CHARC15; CHRAC-1; CHRAC15; CHRAC-15 Summary CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in thyroid (RPKM 10.5), lymph node (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
CHRD, Official Symbol CHRDprovided by HGNC Official Full Name chordinprovided by HGNC Primary source HGNC:HGNC:1949 See related Ensembl:ENSG00000090539 MIM:603475; AllianceGenome:HGNC:1949 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 secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015] Expression Broad expression in endometrium (RPKM 10.5), liver (RPKM 6.4) and 23 other tissues See more Orthologs mouse all
CHRDL1, Official Symbol CHRDL1provided by HGNC Official Full Name chordin like 1provided by HGNC Primary source HGNC:HGNC:29861 See related Ensembl:ENSG00000101938 MIM:300350; AllianceGenome:HGNC:29861 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 CHL; MGC1; MGCN; VOPT; NRLN1; dA141H5.1 Summary This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009] Expression Broad expression in fat (RPKM 100.2), prostate (RPKM 57.9) and 15 other tissues See more Orthologs mouse all
CHRDL2, Official Symbol CHRDL2provided by HGNC Official Full Name chordin like 2provided by HGNC Primary source HGNC:HGNC:24168 See related Ensembl:ENSG00000054938 MIM:613127; AllianceGenome:HGNC:24168 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 BNF1; CHL2 Summary This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015] Expression Biased expression in gall bladder (RPKM 39.8), appendix (RPKM 39.3) and 4 other tissues See more Orthologs mouse all
CHRFAM7A, Official Symbol CHRFAM7Aprovided by HGNC Official Full Name CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusionprovided by HGNC Primary source HGNC:HGNC:15781 See related Ensembl:ENSG00000166664 MIM:609756; AllianceGenome:HGNC:15781 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 D-10; CHRNA7; NACHRA7; CHRNA7-DR1 Summary The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 4.3), small intestine (RPKM 4.0) and 19 other tissues See more Orthologs all
CHRM1, Official Symbol CHRM1provided by HGNC Official Full Name cholinergic receptor muscarinic 1provided by HGNC Primary source HGNC:HGNC:1950 See related Ensembl:ENSG00000168539 MIM:118510; AllianceGenome:HGNC:1950 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 M1; HM1; M1R Summary The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 24.3), brain (RPKM 18.2) and 4 other tissues See more Orthologs mouse all
CHRM2, Official Symbol CHRM2provided by HGNC Official Full Name cholinergic receptor muscarinic 2provided by HGNC Primary source HGNC:HGNC:1951 See related Ensembl:ENSG00000181072 MIM:118493; AllianceGenome:HGNC:1951 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 HM2 Summary The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 10.8), gall bladder (RPKM 5.9) and 3 other tissues See more Orthologs mouse all
CHRM3, Official Symbol CHRM3provided by HGNC Official Full Name cholinergic receptor muscarinic 3provided by HGNC Primary source HGNC:HGNC:1952 See related Ensembl:ENSG00000133019 MIM:118494; AllianceGenome:HGNC:1952 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 HM3; PBS; EGBRS; m3AChR Summary The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016] Expression Biased expression in brain (RPKM 5.0), salivary gland (RPKM 2.4) and 12 other tissues See more Orthologs mouse all
CHRM3-AS1, Official Symbol CHRM3-AS1provided by HGNC Official Full Name CHRM3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40150 See related Ensembl:ENSG00000234601 AllianceGenome:HGNC:40150 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
CHRM3-AS2, Official Symbol CHRM3-AS2provided by HGNC Official Full Name CHRM3 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:43725 See related Ensembl:ENSG00000233355 AllianceGenome:HGNC:43725 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 lymph node (RPKM 11.8), appendix (RPKM 7.3) and 6 other tissues See more
CHRM4, Official Symbol CHRM4provided by HGNC Official Full Name cholinergic receptor muscarinic 4provided by HGNC Primary source HGNC:HGNC:1953 See related Ensembl:ENSG00000180720 MIM:118495; AllianceGenome:HGNC:1953 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 HM4; M4R Summary The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008] Orthologs mouse all
CHRM5, Official Symbol CHRM5provided by HGNC Official Full Name cholinergic receptor muscarinic 5provided by HGNC Primary source HGNC:HGNC:1954 See related Ensembl:ENSG00000184984 MIM:118496; AllianceGenome:HGNC:1954 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 HM5 Summary The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHRNA1, Official Symbol CHRNA1provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 1 subunitprovided by HGNC Primary source HGNC:HGNC:1955 See related Ensembl:ENSG00000138435 MIM:100690; AllianceGenome:HGNC:1955 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 ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS Summary The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012] Expression Biased expression in prostate (RPKM 1.5), colon (RPKM 0.5) and 9 other tissues See more Orthologs mouse all
CHRNA10, Official Symbol CHRNA10provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 10 subunitprovided by HGNC Primary source HGNC:HGNC:13800 See related Ensembl:ENSG00000129749 MIM:606372; AllianceGenome:HGNC:13800 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 acetylcholine-gated cation-selective channel activity. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in membrane. Predicted to be active in cholinergic synapse and neuron projection. Predicted to be integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHRNA2, Official Symbol CHRNA2provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 2 subunitprovided by HGNC Primary source HGNC:HGNC:1956 See related Ensembl:ENSG00000120903 MIM:118502; AllianceGenome:HGNC:1956 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 Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009] Expression Restricted expression toward prostate (RPKM 15.4) See more Orthologs mouse all
CHRNA3, Official Symbol CHRNA3provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 3 subunitprovided by HGNC Primary source HGNC:HGNC:1957 See related Ensembl:ENSG00000080644 MIM:118503; AllianceGenome:HGNC:1957 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 LNCR2; PAOD2; BAIPRCK; NACHRA3 Summary This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] Expression Biased expression in adrenal (RPKM 16.5), appendix (RPKM 2.4) and 2 other tissues See more Orthologs mouse all
CHRNA4, Official Symbol CHRNA4provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 4 subunitprovided by HGNC Primary source HGNC:HGNC:1958 See related Ensembl:ENSG00000101204 MIM:118504; AllianceGenome:HGNC:1958 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 EBN; BFNC; EBN1; NACHR; NACRA4; NACHRA4 Summary This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Expression Biased expression in liver (RPKM 3.9), brain (RPKM 3.0) and 4 other tissues See more Orthologs mouse all
CHRNA5, Official Symbol CHRNA5provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 5 subunitprovided by HGNC Primary source HGNC:HGNC:1959 See related Ensembl:ENSG00000169684 MIM:118505; AllianceGenome:HGNC:1959 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 LNCR2 Summary The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010] Expression Broad expression in gall bladder (RPKM 1.4), colon (RPKM 1.2) and 19 other tissues See more Orthologs mouse all
CHRNA6, Official Symbol CHRNA6provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 6 subunitprovided by HGNC Primary source HGNC:HGNC:15963 See related Ensembl:ENSG00000147434 MIM:606888; AllianceGenome:HGNC:15963 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 CHNRA6 Summary This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHRNA7, Official Symbol CHRNA7provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 7 subunitprovided by HGNC Primary source HGNC:HGNC:1960 See related Ensembl:ENSG00000175344 MIM:118511; AllianceGenome:HGNC:1960 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 NACHRA7; CHRNA7-2 Summary The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Expression Broad expression in adrenal (RPKM 4.1), small intestine (RPKM 4.1) and 19 other tissues See more Orthologs all
CHRNA9, Official Symbol CHRNA9provided by HGNC Official Full Name cholinergic receptor nicotinic alpha 9 subunitprovided by HGNC Primary source HGNC:HGNC:14079 See related Ensembl:ENSG00000174343 MIM:605116; AllianceGenome:HGNC:14079 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 NACHRA9; HSA243342 Summary This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHRNB1, Official Symbol CHRNB1provided by HGNC Official Full Name cholinergic receptor nicotinic beta 1 subunitprovided by HGNC Primary source HGNC:HGNC:1961 See related Ensembl:ENSG00000170175 MIM:100710; AllianceGenome:HGNC:1961 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 ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS Summary The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 6.4), placenta (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
CHRNB2, Official Symbol CHRNB2provided by HGNC Official Full Name cholinergic receptor nicotinic beta 2 subunitprovided by HGNC Primary source HGNC:HGNC:1962 See related Ensembl:ENSG00000160716 MIM:118507; AllianceGenome:HGNC:1962 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 EFNL3; nAChRB2 Summary Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 9.5), adrenal (RPKM 0.7) and 1 other tissue See more Orthologs mouse all
CHRNB3, Official Symbol CHRNB3provided by HGNC Official Full Name cholinergic receptor nicotinic beta 3 subunitprovided by HGNC Primary source HGNC:HGNC:1963 See related Ensembl:ENSG00000147432 MIM:118508; AllianceGenome:HGNC:1963 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 The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHRNB4, Official Symbol CHRNB4provided by HGNC Official Full Name cholinergic receptor nicotinic beta 4 subunitprovided by HGNC Primary source HGNC:HGNC:1964 See related Ensembl:ENSG00000117971 MIM:118509; AllianceGenome:HGNC:1964 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 is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017] Expression Biased expression in testis (RPKM 1.1), adrenal (RPKM 0.6) and 7 other tissues See more Orthologs mouse all
CHRND, Official Symbol CHRNDprovided by HGNC Official Full Name cholinergic receptor nicotinic delta subunitprovided by HGNC Primary source HGNC:HGNC:1965 See related Ensembl:ENSG00000135902 MIM:100720; AllianceGenome:HGNC:1965 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 ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS Summary The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHRNE, Official Symbol CHRNEprovided by HGNC Official Full Name cholinergic receptor nicotinic epsilon subunitprovided by HGNC Primary source HGNC:HGNC:1966 See related Ensembl:ENSG00000108556 MIM:100725; AllianceGenome:HGNC:1966 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 MGI; FIM1; FIMG; ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; FIMG1; SCCMS; CMS1A1 Summary Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009] Expression Broad expression in heart (RPKM 15.8), skin (RPKM 3.3) and 20 other tissues See more Orthologs mouse all
CHRNG, Official Symbol CHRNGprovided by HGNC Official Full Name cholinergic receptor nicotinic gamma subunitprovided by HGNC Primary source HGNC:HGNC:1967 See related Ensembl:ENSG00000196811 MIM:100730; AllianceGenome:HGNC:1967 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 ACHRG Summary The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHROMR, Official Symbol CHROMRprovided by HGNC Official Full Name cholesterol induced regulator of metabolism RNAprovided by HGNC Primary source HGNC:HGNC:54059 See related Ensembl:ENSG00000223960 AllianceGenome:HGNC:54059 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 CHROME; PRKRA-AS1 Expression Ubiquitous expression in testis (RPKM 3.8), endometrium (RPKM 3.8) and 25 other tissues See more
CHST1, Official Symbol CHST1provided by HGNC Official Full Name carbohydrate sulfotransferase 1provided by HGNC Primary source HGNC:HGNC:1969 See related Ensembl:ENSG00000175264 MIM:603797; AllianceGenome:HGNC:1969 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 C6ST; KSST; GST-1; KS6ST; KSGal6ST Summary This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011] Expression Biased expression in brain (RPKM 12.8), thyroid (RPKM 2.7) and 6 other tissues See more Orthologs mouse all
CHST10, Official Symbol CHST10provided by HGNC Official Full Name carbohydrate sulfotransferase 10provided by HGNC Primary source HGNC:HGNC:19650 See related Ensembl:ENSG00000115526 MIM:606376; AllianceGenome:HGNC:19650 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 HNK1ST; HNK-1ST Summary This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] Expression Broad expression in brain (RPKM 10.4), endometrium (RPKM 4.2) and 21 other tissues See more Orthologs mouse all
CHST11, Official Symbol CHST11provided by HGNC Official Full Name carbohydrate sulfotransferase 11provided by HGNC Primary source HGNC:HGNC:17422 See related Ensembl:ENSG00000171310 MIM:610128; AllianceGenome:HGNC:17422 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 C4ST; C4ST1; OCBMD; C4ST-1; HSA269537 Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in appendix (RPKM 8.6), brain (RPKM 8.5) and 23 other tissues See more Orthologs mouse all
CHST12, Official Symbol CHST12provided by HGNC Official Full Name carbohydrate sulfotransferase 12provided by HGNC Primary source HGNC:HGNC:17423 See related Ensembl:ENSG00000136213 MIM:610129; AllianceGenome:HGNC:17423 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 C4S-2; C4ST2; C4ST-2 Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in fat (RPKM 6.6), spleen (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
CHST13, Official Symbol CHST13provided by HGNC Official Full Name carbohydrate sulfotransferase 13provided by HGNC Primary source HGNC:HGNC:21755 See related Ensembl:ENSG00000180767 MIM:610124; AllianceGenome:HGNC:21755 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 C4ST3 Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011] Expression Biased expression in liver (RPKM 5.7), testis (RPKM 3.2) and 4 other tissues See more Orthologs mouse all
CHST14, Official Symbol CHST14provided by HGNC Official Full Name carbohydrate sulfotransferase 14provided by HGNC Primary source HGNC:HGNC:24464 See related Ensembl:ENSG00000169105 MIM:608429; AllianceGenome:HGNC:24464 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 ATCS; D4ST1; EDSMC1; HNK1ST Summary This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010] Orthologs mouse all
CHST15, Official Symbol CHST15provided by HGNC Official Full Name carbohydrate sulfotransferase 15provided by HGNC Primary source HGNC:HGNC:18137 See related Ensembl:ENSG00000182022 MIM:608277; AllianceGenome:HGNC:18137 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 BRAG; GALNAC4S-6ST Summary Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in ovary (RPKM 9.9), spleen (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
CHST2, Official Symbol CHST2provided by HGNC Official Full Name carbohydrate sulfotransferase 2provided by HGNC Primary source HGNC:HGNC:1970 See related Ensembl:ENSG00000175040 MIM:603798; AllianceGenome:HGNC:1970 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 C6ST; GST2; GST-2; Gn6ST-1; HEL-S-75; glcNAc6ST-1 Summary This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011] Expression Broad expression in spleen (RPKM 8.2), placenta (RPKM 6.8) and 22 other tissues See more Orthologs mouse all
CHST3, Official Symbol CHST3provided by HGNC Official Full Name carbohydrate sulfotransferase 3provided by HGNC Primary source HGNC:HGNC:1971 See related Ensembl:ENSG00000122863 MIM:603799; AllianceGenome:HGNC:1971 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 HSD; C6ST; C6ST1 Summary This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Expression Broad expression in testis (RPKM 10.9), ovary (RPKM 8.0) and 21 other tissues See more Orthologs mouse all
CHST4, Official Symbol CHST4provided by HGNC Official Full Name carbohydrate sulfotransferase 4provided by HGNC Primary source HGNC:HGNC:1972 See related Ensembl:ENSG00000140835 AllianceGenome:HGNC:1972 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 GST3; LSST; GlcNAc6ST2; HECGLCNAC6ST Summary This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] Expression Restricted expression toward gall bladder (RPKM 42.6) See more Orthologs mouse all
CHST5, Official Symbol CHST5provided by HGNC Official Full Name carbohydrate sulfotransferase 5provided by HGNC Primary source HGNC:HGNC:1973 See related Ensembl:ENSG00000135702 MIM:604817; AllianceGenome:HGNC:1973 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 gn6st-3; hIGn6ST; I-GlcNAc6ST; glcNAc6ST-3; I-GlcNAc-6-ST Summary The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011] Expression Biased expression in colon (RPKM 16.2), duodenum (RPKM 16.2) and 2 other tissues See more Orthologs mouse all
CHST6, Official Symbol CHST6provided by HGNC Official Full Name carbohydrate sulfotransferase 6provided by HGNC Primary source HGNC:HGNC:6938 See related Ensembl:ENSG00000183196 MIM:605294; AllianceGenome:HGNC:6938 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 MCDC1; gn6st-5; hCGn6ST; GST4-beta; C-GlcNAc6ST; glcNAc6ST-5 Summary The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010] Expression Biased expression in brain (RPKM 2.4), adrenal (RPKM 0.7) and 12 other tissues See more Orthologs all
CHST7, Official Symbol CHST7provided by HGNC Official Full Name carbohydrate sulfotransferase 7provided by HGNC Primary source HGNC:HGNC:13817 See related Ensembl:ENSG00000147119 MIM:300375; AllianceGenome:HGNC:13817 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 GST-5; C6ST-2 Summary This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin. [provided by RefSeq, Aug 2013] Expression Broad expression in spleen (RPKM 5.5), fat (RPKM 5.1) and 22 other tissues See more Orthologs mouse all
CHST8, Official Symbol CHST8provided by HGNC Official Full Name carbohydrate sulfotransferase 8provided by HGNC Primary source HGNC:HGNC:15993 See related Ensembl:ENSG00000124302 MIM:610190; AllianceGenome:HGNC:15993 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 PSS3; GalNAc4ST; GALNAC4ST1 Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all