PIK3R5

phosphoinositide-3-kinase regulatory subunit 5

Summary

Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]

Known Variants99 total

rsidPosition (GRCh37)AllelesClassClinVar
rs136757016217:8,783,973T/C—uncertain significance
rs75058562217:8,784,008A/C—uncertain significance
rs6262022717:8,784,042G/A—conflicting classifications of pathogenicity
rs14812931117:8,784,044G/A—uncertain significance
rs37697444017:8,784,045T/C—uncertain significance
rs86741990417:8,784,069T/C—uncertain significance
rs479176417:8,784,149C/T—benign
rs14726425517:8,784,291C/G—uncertain significance
rs74690609617:8,784,292C/T—uncertain significance
rs479176517:8,784,361G/A—benign
rs14072716517:8,784,968T/C—likely benign
rs250772577917:8,784,975T/C—uncertain significance
rs52953088717:8,785,008G/A—uncertain significance
rs990344717:8,785,087C/A—benign
rs990260017:8,785,092C/T—benign
rs20129943517:8,785,123G/A—uncertain significance
rs77418027617:8,785,145G/A—likely benign
rs77173213117:8,785,148G/A—likely benign
rs129026760217:8,785,197C/A—uncertain significance
rs6176111617:8,788,014C/T—benign
rs14844391317:8,788,075G/C—uncertain significance
rs86869885017:8,789,597G/A—uncertain significance
rs100225190117:8,789,612T/C—uncertain significance
rs250777708117:8,789,614G/A—uncertain significance
rs250778108417:8,789,873A/G—uncertain significance
rs14087891017:8,789,891T/C—uncertain significance
rs1107877017:8,790,074G/Aintron variant—
rs137906009817:8,790,408C/T—uncertain significance
rs6176106817:8,790,433G/Amissense variantuncertain significance
rs6176106717:8,790,473G/A—benign
rs6263868517:8,790,527G/A—benign
rs37001218617:8,790,849C/T—uncertain significance
rs125042916317:8,790,863T/A—uncertain significance
rs20175334517:8,790,890C/T—uncertain significance
rs76661875517:8,790,902C/G—uncertain significance
rs14849757017:8,790,936C/T—benign
rs74966285117:8,790,942C/T—uncertain significance
rs77156861517:8,790,968C/T—uncertain significance
rs76065151417:8,790,983C/T—uncertain significance
rs76400569117:8,790,984G/A—uncertain significance
rs14135479217:8,791,494T/C—benign
rs77938215317:8,791,528G/A—uncertain significance
rs75811170617:8,791,532G/A—likely benign
rs78053736717:8,791,556C/T—likely benign
rs75080311317:8,791,612G/A—uncertain significance
rs92885110217:8,791,651C/T—likely benign
rs76874530117:8,791,681G/A—uncertain significance
rs76173175717:8,791,689C/T—uncertain significance
rs75190760917:8,791,711C/T—uncertain significance
rs74928198917:8,791,740C/T—uncertain significance
rs77665904117:8,791,770C/G—uncertain significance
rs37129963817:8,791,782C/T—uncertain significance
rs75338147717:8,791,830T/C—uncertain significance
rs55114766117:8,791,860C/T—uncertain significance
rs77789599517:8,791,872C/T—uncertain significance
rs37666523517:8,791,873G/A—uncertain significance
rs77590540217:8,791,897G/A—uncertain significance
rs20141300117:8,791,989G/A—uncertain significance
rs991588017:8,792,003C/T—benign
rs208994698717:8,792,023G/A—uncertain significance
rs14108683117:8,792,028A/G—conflicting classifications of pathogenicity
rs38130917:8,792,029A/G—benign
rs37739567917:8,792,069G/A—likely benign
rs1695770217:8,792,093G/A—benign
rs14705079317:8,792,098T/C—uncertain significance
rs55109433817:8,792,141T/A—uncertain significance
rs74900747117:8,792,149C/T—uncertain significance
rs1165073717:8,792,171T/C—benign
rs208995198417:8,792,176C/G—uncertain significance
rs15006323317:8,792,446G/A—likely benign
rs76853429317:8,792,490C/T—likely benign
rs6175965817:8,792,496G/A—benign
rs39481117:8,792,514G/A—benign
rs76817183217:8,792,537T/C—uncertain significance
rs37616121617:8,793,321C/G—likely benign
rs20098998617:8,793,349C/T—likely benign
rs20046961017:8,793,372G/C—uncertain significance
rs77563998617:8,793,401C/T—uncertain significance
rs208998716217:8,793,434G/C—uncertain significance
rs38119817:8,794,014A/G—benign
rs13989267517:8,794,081C/T—uncertain significance
rs15073591117:8,794,115G/A—likely benign
rs79704588717:8,794,129T/C—uncertain significance
rs75917679717:8,794,153G/A—uncertain significance
rs76712776717:8,794,156C/T—uncertain significance
rs14489174817:8,796,915C/T—uncertain significance
rs77597823417:8,796,916G/C—uncertain significance
rs56069557317:8,808,112C/T—uncertain significance
rs9253517:8,809,075A/G—benign
rs76121829117:8,812,429G/A—uncertain significance
rs76442259117:8,812,439C/T—likely benign
rs77958578717:8,812,488C/G—uncertain significance
rs20039012217:8,814,726C/T—uncertain significance
rs15020314517:8,814,794C/T—likely benign
rs14367038717:8,814,797G/A—benign
rs89709448717:8,814,799C/T—not provided
rs721888617:8,841,140G/Tintron variant—
rs991103317:8,845,983T/Cintron variant—
rs930323417:8,864,690A/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.