STXBP5

syntaxin binding protein 5

Summary

Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants84 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38111066:147,525,663G/A—benign
rs7670466126:147,525,682A/G—uncertain significance
rs5309568436:147,527,129A/G—uncertain significance
rs25335118136:147,527,158G/C—uncertain significance
rs27861896:147,531,081G/Tintron variant—
rs5427616356:147,532,037G/A——
rs5564936:147,549,297A/Gintron variant—
rs1470834186:147,556,386C/T—likely benign
rs5515181036:147,560,357C/T—uncertain significance
rs7569361556:147,560,375A/G—uncertain significance
rs4749906:147,572,380T/Gintron variant—
rs7500401946:147,581,856C/T—likely benign
rs3676145026:147,583,481G/A—uncertain significance
rs1995257046:147,588,214T/C—likely benign
rs7650841696:147,588,220C/G—uncertain significance
rs1397270606:147,588,282C/T—likely benign
rs25339386206:147,599,248G/A—uncertain significance
rs2006117106:147,599,280A/G—uncertain significance
rs1485281126:147,599,289A/G—likely benign
rs1428566586:147,599,300A/G—likely benign
rs20681116:147,611,821G/T——
rs3698244676:147,632,598A/G—likely benign
rs25341372276:147,632,659A/G—uncertain significance
rs2019447186:147,635,080C/T—likely benign
rs1440990926:147,635,108C/G—likely benign
rs7618555116:147,636,728A/G—uncertain significance
rs1488305786:147,636,753A/G—benign
rs5502009806:147,636,823C/G—likely benign
rs7739388566:147,636,870C/T—uncertain significance
rs5701094116:147,636,880G/A—likely benign
rs5389430586:147,637,387A/G—uncertain significance
rs3753259216:147,637,392A/T—uncertain significance
rs3679952606:147,637,398G/A—uncertain significance
rs3759279846:147,637,416G/T—uncertain significance
rs3691922956:147,637,522G/T—uncertain significance
rs5438885696:147,637,532A/G—likely benign
rs1483723996:147,637,538T/C—likely benign
rs7673727246:147,648,290C/T—uncertain significance
rs3683373136:147,648,314C/A—uncertain significance
rs2016357556:147,648,338T/C—uncertain significance
rs1433527456:147,648,345A/G—benign
rs5345815726:147,648,380G/T—uncertain significance
rs25342421596:147,648,382T/G—uncertain significance
rs17833114006:147,648,388C/T—uncertain significance
rs7615289926:147,648,389G/A—uncertain significance
rs3769709356:147,655,317G/A—uncertain significance
rs1460778606:147,655,318G/A—likely benign
rs1401026936:147,655,322G/T—uncertain significance
rs13326397466:147,655,328C/T—uncertain significance
rs5384606616:147,660,321C/T—uncertain significance
rs25343079946:147,660,347C/A—uncertain significance
rs12007158796:147,660,500A/G—uncertain significance
rs12606914566:147,660,515A/G—uncertain significance
rs7706945836:147,660,529T/C—likely benign
rs558736896:147,674,450G/A—benign
rs1162779736:147,674,466G/A—benign
rs3735916676:147,680,244G/A—uncertain significance
rs5620869456:147,680,270A/G—uncertain significance
rs3693239376:147,680,303C/A—uncertain significance
rs1422072026:147,680,320G/A—likely benign
rs351591076:147,680,327C/A—benign
rs93904596:147,680,359A/Gsynonymous variant—
rs7573368516:147,680,451C/T—uncertain significance
rs7578853636:147,684,478A/G—uncertain significance
rs7505304356:147,684,484G/T—uncertain significance
rs7688639166:147,684,501T/G—uncertain significance
rs341818416:147,684,541A/G—benign
rs17851525626:147,684,542C/G—uncertain significance
rs1437963666:147,684,611C/T—uncertain significance
rs13126623206:147,685,187A/G—uncertain significance
rs5390170526:147,685,193G/A—uncertain significance
rs25344486446:147,685,268T/C—uncertain significance
rs7687303066:147,685,295A/G—uncertain significance
rs93861826:147,691,069A/C——
rs93735236:147,701,133T/A——
rs93904616:147,701,217A/Gintron variant—
rs93995996:147,703,299A/Tregulatory region variant—
rs1140795756:147,703,956A/T—likely benign
rs25345566076:147,703,962T/C—uncertain significance
rs14217800916:147,703,974G/C—uncertain significance
rs7516819556:147,704,082G/A—uncertain significance
rs7815053196:147,704,095G/C—uncertain significance
rs346773886:147,704,113A/G—benign
rs25345678476:147,705,858G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.