BIRC5

baculoviral IAP repeat containing 5

Summary

This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

Known Variants28 total

rsidPosition (GRCh37)AllelesClassClinVar
rs376438317:76,208,851C/G——
rs807390317:76,209,754T/Cupstream gene variant—
rs807306917:76,209,773G/A——
rs1787846717:76,210,157C/G——
rs990434117:76,210,367G/T——
rs54336785317:76,210,420C/T—uncertain significance
rs26760507117:76,210,473C/A—uncertain significance
rs77790675917:76,212,063G/A—uncertain significance
rs36864851117:76,212,074T/G—uncertain significance
rs14607127617:76,212,078A/C—likely benign
rs251093410217:76,212,081A/T—uncertain significance
rs75624558517:76,212,106G/A—likely benign
rs75073696017:76,212,765C/T—uncertain significance
rs20018911317:76,212,770G/A—uncertain significance
rs74759858517:76,212,776G/T—uncertain significance
rs14237777017:76,212,838C/T—likely benign
rs7906910517:76,218,908G/A—likely benign
rs75332074917:76,219,561A/C—uncertain significance
rs207121417:76,219,591G/Tstop gained—
rs14377743317:76,219,600C/T—uncertain significance
rs37594707717:76,219,603C/T—likely benign
rs77665464317:76,219,604G/A—uncertain significance
rs207652906017:76,219,612G/A—uncertain significance
rs1788552117:76,219,685G/C—benign
rs223968017:76,219,783T/Cmissense variant—
rs1787914617:76,219,945T/Gmissense variant—
rs104248917:76,220,206T/G——
rs104254217:76,221,428T/Cupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.