CHRNA7

cholinergic receptor nicotinic alpha 7 subunit

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]

Known Variants82 total

rsidPosition (GRCh37)AllelesClassClinVar
rs308745415:32,320,967C/Aupstream gene variant—
rs2853177915:32,322,604G/C—likely benign
rs55317950015:32,322,607G/A—likely benign
rs14963746415:32,322,712C/T—benign
rs14518041515:32,322,752G/T—benign
rs20085397215:32,322,800G/A—uncertain significance
rs127630101215:32,322,823G/T—uncertain significance
rs20039058715:32,322,842G/A—benign
rs77196514615:32,322,887G/T—likely benign
rs229257115:32,322,929A/G—benign
rs20172778215:32,323,095C/G—likely benign
rs75487653815:32,323,104C/T—uncertain significance
rs90503950315:32,323,105C/T—likely benign
rs74936151415:32,323,134A/G—uncertain significance
rs77053864515:32,323,135C/G—uncertain significance
rs19997461415:32,323,201C/G—likely benign
rs250486566615:32,323,224T/C—uncertain significance
rs1290887715:32,323,454G/A—benign
rs88347315:32,325,676A/Gintron variant—
rs18435046015:32,327,055G/Cintron variant—
rs233750615:32,346,067A/Gintron variant—
rs477996915:32,348,931A/Cintron variant—
rs135592015:32,357,728G/C——
rs213396515:32,384,554A/Gintron variant—
rs20064875415:32,393,502G/T—likely benign
rs2865037515:32,393,663C/A—benign
rs649422315:32,396,457C/G——
rs7918752015:32,403,933A/G—likely benign
rs14897179115:32,403,982G/A—benign
rs156684673615:32,403,990G/A—no classifications from unflagged records
rs77507516115:32,404,010T/C—uncertain significance
rs76514409815:32,404,052G/A—uncertain significance
rs37284154715:32,404,062T/A—uncertain significance
rs14084224115:32,404,084A/G—likely benign
rs18224363015:32,404,227C/T—likely benign
rs7271520515:32,404,404A/G—likely benign
rs90495215:32,418,745C/G——
rs190988415:32,439,298G/Aintron variant—
rs717817615:32,443,813C/A——
rs233798015:32,444,196C/Tintron variant—
rs77440725115:32,449,868T/C—uncertain significance
rs256461315:32,450,062C/T—benign
rs87943823415:32,450,491T/C—benign
rs137270242515:32,450,492T/C—benign
rs54086088115:32,450,502T/A—benign
rs250550805115:32,450,649G/A—uncertain significance
rs104272215:32,450,704G/A—likely benign
rs14272850815:32,450,712A/G—benign
rs75806532915:32,450,737T/G—uncertain significance
rs261160815:32,450,828C/T—benign
rs77258472415:32,450,859G/C—benign
rs20119644715:32,450,971G/T—benign
rs6801241615:32,451,641G/A—benign
rs265143915:32,451,750G/A—benign
rs75388040215:32,451,837C/T—likely benign
rs55222302515:32,451,850T/C—likely benign
rs7165170215:32,455,467G/A—benign
rs38447015:32,455,479A/G—likely benign
rs20209110615:32,455,485C/T—likely benign
rs76530104815:32,455,512C/T—likely benign
rs19299934315:32,455,557A/G—benign
rs141281239515:32,460,142C/T—uncertain significance
rs7165360315:32,460,194C/T—likely benign
rs19969877815:32,460,238G/A—uncertain significance
rs37651309615:32,460,267G/C—uncertain significance
rs15088839115:32,460,269C/T—likely benign
rs75768729315:32,460,270G/A—uncertain significance
rs37384702315:32,460,291A/G—uncertain significance
rs74899488115:32,460,309A/C—uncertain significance
rs129694419915:32,460,333G/A—likely benign
rs20085808015:32,460,347G/C—likely benign
rs93621168415:32,460,355A/G—uncertain significance
rs75043819615:32,460,385G/C—uncertain significance
rs136384805415:32,460,420G/C—uncertain significance
rs120989071515:32,460,451C/T—uncertain significance
rs225396715:32,460,485C/T—likely benign
rs128175951915:32,460,486C/T—uncertain significance
rs147760614115:32,460,487G/A—uncertain significance
rs116392840315:32,460,493G/A—uncertain significance
rs141600119015:32,460,495T/C—uncertain significance
rs117062876815:32,460,555C/T—conflicting classifications of pathogenicity
rs205230971115:32,460,637C/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.