ITGAE

integrin subunit alpha E

Summary

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

Known Variants88 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13826888617:3,620,309C/Tupstream gene variant—
rs19325460717:3,622,107C/Aupstream gene variant—
rs140149462617:3,623,626A/T—uncertain significance
rs90939175117:3,626,601G/A—uncertain significance
rs14581527917:3,626,649C/T—uncertain significance
rs75938280717:3,627,020A/G—uncertain significance
rs55182010317:3,627,096C/A——
rs1165388917:3,627,456T/Amissense variant—
rs250772497717:3,631,266T/C—uncertain significance
rs14794385417:3,631,272C/T—uncertain significance
rs20159900417:3,631,400T/C—uncertain significance
rs250772600017:3,631,409A/T—uncertain significance
rs76488881217:3,631,446C/T—likely benign
rs11767137217:3,632,813G/A—likely benign
rs171617:3,632,836G/Amissense variant—
rs20033339017:3,634,440G/A—uncertain significance
rs77025886117:3,634,473T/C—uncertain significance
rs37338881017:3,635,693C/T—likely benign
rs55316835217:3,635,702A/G—uncertain significance
rs250776361917:3,638,181C/A—uncertain significance
rs37516897117:3,638,182C/T—uncertain significance
rs13916507517:3,638,190G/C—uncertain significance
rs37074710517:3,638,201G/A—likely benign
rs250776397317:3,638,212G/C—uncertain significance
rs76863964617:3,643,106C/T—likely benign
rs6173100417:3,643,109T/C—uncertain significance
rs75626105217:3,643,132A/C—uncertain significance
rs156752336617:3,643,156G/C—uncertain significance
rs139984970617:3,643,165T/C—uncertain significance
rs86688869317:3,646,811C/T—likely benign
rs77381430917:3,646,838G/A—uncertain significance
rs145818160617:3,646,848C/T—uncertain significance
rs14183033817:3,646,872C/T—uncertain significance
rs250781782217:3,649,110C/T—uncertain significance
rs76158374817:3,649,138T/C—uncertain significance
rs14712217217:3,649,144C/T—uncertain significance
rs77803768817:3,649,188T/A—uncertain significance
rs15129507517:3,649,193C/T—likely benign
rs76009336517:3,651,290G/A—uncertain significance
rs75073088317:3,651,305G/T—uncertain significance
rs123844560717:3,651,315T/C—uncertain significance
rs13949848617:3,653,647G/A—uncertain significance
rs14776640417:3,653,658G/A—uncertain significance
rs75320490417:3,653,695C/T—uncertain significance
rs19962868917:3,653,718C/T—uncertain significance
rs75993453117:3,653,727G/A—uncertain significance
rs77462096017:3,654,988T/C—uncertain significance
rs20041685317:3,655,054C/T—uncertain significance
rs76253184517:3,655,084C/T—uncertain significance
rs15019330517:3,655,110C/T—uncertain significance
rs77812789317:3,655,111G/A—uncertain significance
rs14401149817:3,655,127G/A—likely benign
rs76366944917:3,656,607A/G—uncertain significance
rs159733400617:3,656,663T/C—uncertain significance
rs53070206517:3,656,666G/A—uncertain significance
rs74766770017:3,657,156T/C—uncertain significance
rs227260617:3,657,159T/C—benign
rs75991923617:3,657,174A/G—uncertain significance
rs250786945617:3,658,434T/C—uncertain significance
rs77611095417:3,658,446G/A—likely benign
rs214302287917:3,658,482C/T—uncertain significance
rs76311952417:3,658,495C/T—likely benign
rs115686809017:3,659,126C/G—uncertain significance
rs14429051317:3,659,144T/C—uncertain significance
rs37667038317:3,659,152A/G—uncertain significance
rs74595112517:3,660,294G/A—likely benign
rs18971913417:3,660,379A/G—uncertain significance
rs205206319317:3,661,017C/T—uncertain significance
rs127504802917:3,661,072G/C—uncertain significance
rs75453582517:3,661,086C/G—uncertain significance
rs36758120117:3,661,121C/T—uncertain significance
rs76774458017:3,661,128C/T—uncertain significance
rs118811592517:3,662,750T/G—uncertain significance
rs37362485417:3,662,792C/T—likely benign
rs14385992517:3,662,793G/A—uncertain significance
rs14862019617:3,662,829G/T—uncertain significance
rs78116247317:3,664,372C/T—uncertain significance
rs37452553817:3,664,729C/T—uncertain significance
rs75380229617:3,664,766G/A—uncertain significance
rs22047017:3,664,975A/Gintron variant—
rs14570156717:3,665,228C/T—uncertain significance
rs36792872017:3,665,246C/T—likely benign
rs76280748017:3,665,247G/A—uncertain significance
rs37437831917:3,667,240C/A—uncertain significance
rs76884865417:3,667,244T/C—uncertain significance
rs7744020317:3,668,795G/Tregulatory region variant—
rs74832378517:3,680,843T/C—uncertain significance
rs14145030817:3,680,853G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.