ITGAX

integrin subunit alpha X

Summary

This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Known Variants85 total

rsidPosition (GRCh37)AllelesClassClinVar
rs719957016:31,365,464T/Aupstream gene variant—
rs208075478216:31,367,258A/G—uncertain significance
rs37248194016:31,367,267C/T—uncertain significance
rs77381626616:31,367,279G/A—uncertain significance
rs223042416:31,367,318T/Cmissense variant—
rs77679049516:31,367,962C/T—uncertain significance
rs37589012516:31,367,990C/T—uncertain significance
rs75453834616:31,368,019A/T—uncertain significance
rs74759197216:31,368,037A/G—uncertain significance
rs96679428916:31,368,044T/G—uncertain significance
rs37080591116:31,368,364C/T—uncertain significance
rs77619882116:31,368,580G/A—uncertain significance
rs76819658316:31,368,593A/G—uncertain significance
rs77053301516:31,368,671C/A—uncertain significance
rs1157463716:31,368,874T/Cdownstream gene variant—
rs57354466216:31,371,636G/A—likely benign
rs77406546316:31,371,654A/G—uncertain significance
rs14106919216:31,371,716G/T—uncertain significance
rs20093516316:31,372,393G/A—uncertain significance
rs77614732416:31,372,456C/T—likely benign
rs37595399716:31,373,186G/A—uncertain significance
rs75679058516:31,373,415C/T—uncertain significance
rs13886600816:31,373,496A/C—uncertain significance
rs75863252416:31,373,954C/T—likely benign
rs19991037516:31,373,985G/C—uncertain significance
rs15056271116:31,373,986C/T—uncertain significance
rs14742636416:31,374,258C/G—uncertain significance
rs104410642616:31,374,266A/G—uncertain significance
rs254455004616:31,374,275C/T—uncertain significance
rs19966835816:31,374,288C/T—benign
rs76782454316:31,374,289G/A—uncertain significance
rs14759896416:31,374,306C/T—likely benign
rs254455028316:31,374,326T/G—uncertain significance
rs14208999016:31,374,330C/T—likely benign
rs77622390116:31,374,331G/A—uncertain significance
rs15130626816:31,374,359G/A—likely benign
rs36968189516:31,374,516T/C—likely benign
rs223042916:31,374,535C/G—benign
rs128000322216:31,374,669C/T—uncertain significance
rs254455207116:31,374,693C/G—uncertain significance
rs1291854916:31,376,455C/Tregulatory region variant—
rs76485860416:31,382,420C/G—uncertain significance
rs20160488916:31,382,429T/C—likely benign
rs128800469516:31,382,436T/A—uncertain significance
rs254456391416:31,382,448G/A—uncertain significance
rs100713247616:31,382,462G/A—uncertain significance
rs14368844016:31,382,510G/A—uncertain significance
rs20165560116:31,382,513C/T—uncertain significance
rs20005203316:31,382,517G/A—uncertain significance
rs37194037116:31,382,696T/C—likely benign
rs77388878116:31,382,786T/C—uncertain significance
rs18505880716:31,382,795G/C—uncertain significance
rs123990812316:31,382,805C/A—uncertain significance
rs14664797816:31,382,999G/T—uncertain significance
rs37131948516:31,383,010C/T—uncertain significance
rs76031476016:31,383,050G/A—uncertain significance
rs20063704116:31,383,104C/T—uncertain significance
rs75585735916:31,383,801G/A—uncertain significance
rs134330062316:31,383,802C/T—likely benign
rs128009314916:31,384,598C/G—uncertain significance
rs97905403716:31,384,637G/C—uncertain significance
rs92742602316:31,384,638A/G—uncertain significance
rs13806647916:31,388,135C/T—uncertain significance
rs77496112116:31,388,144C/A—uncertain significance
rs76003580616:31,388,222C/T—uncertain significance
rs14069726916:31,388,227C/A—likely benign
rs75891187016:31,388,343A/G—uncertain significance
rs20103927916:31,388,355A/G—benign
rs20029046716:31,388,372C/T—uncertain significance
rs127694334916:31,388,384A/T—uncertain significance
rs37332135416:31,388,507A/G—uncertain significance
rs20123623416:31,388,527C/G—uncertain significance
rs5872447216:31,389,954C/G——
rs14393259316:31,391,315C/T—uncertain significance
rs76237707216:31,391,336G/T—uncertain significance
rs14243494616:31,391,381G/C—uncertain significance
rs254458371316:31,391,590T/G—uncertain significance
rs147126342716:31,391,618G/A—uncertain significance
rs141127085316:31,391,622T/G—uncertain significance
rs77863700816:31,391,625C/T—likely benign
rs144745022716:31,391,882A/T—uncertain significance
rs15005442216:31,392,219C/T—uncertain significance
rs77005305516:31,392,269G/A—uncertain significance
rs13785883016:31,392,309T/C—uncertain significance
rs254458686716:31,393,208A/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.