BACE2

beta-secretase 2

Summary

This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs117489005421:42,540,276T/C—uncertain significance
rs251687811121:42,540,285C/A—uncertain significance
rs36996351121:42,540,301G/A—benign
rs77816674421:42,540,329C/T—uncertain significance
rs251687827721:42,540,338G/A—uncertain significance
rs20075826821:42,540,356C/T—benign
rs118822142821:42,540,381T/A—uncertain significance
rs37661963921:42,540,454T/A—likely benign
rs251687852221:42,540,475G/C—uncertain significance
rs812715621:42,543,403C/Gregulatory region variant—
rs727792021:42,575,415T/Cintron variant—
rs55015671021:42,576,844A/G——
rs54980388121:42,577,753A/G——
rs651765621:42,583,738G/Aintron variant—
rs2836050321:42,583,804G/T——
rs75573553021:42,598,242C/T—uncertain significance
rs36911656721:42,609,471G/C—uncertain significance
rs15048946521:42,609,527C/T—likely benign
rs251693135021:42,609,609A/G—uncertain significance
rs143236555621:42,609,637C/G—uncertain significance
rs77307742721:42,613,822T/C—uncertain significance
rs75082586921:42,613,858C/T—uncertain significance
rs225257621:42,615,293C/T—benign
rs37670120921:42,617,895G/A—uncertain significance
rs37572257921:42,617,980G/A—uncertain significance
rs139651903821:42,617,982G/A—likely benign
rs251693921921:42,617,989T/C—uncertain significance
rs52850210421:42,620,406C/T——
rs104621021:42,622,786T/C—benign
rs77101283621:42,622,800G/A—uncertain significance
rs54210170021:42,626,833C/T——
rs7336832321:42,629,075C/T—benign
rs37125448021:42,629,183G/A—likely benign
rs141822270321:42,629,202A/G—likely benign
rs251694893521:42,629,215C/T—uncertain significance
rs132268939121:42,629,239C/G—uncertain significance
rs75543393521:42,633,819A/G——
rs651766021:42,647,290C/T—benign
rs251696131021:42,647,342A/G—uncertain significance
rs14934535321:42,647,372G/A—likely benign
rs37028707021:42,647,391C/G—uncertain significance
rs156889702221:42,647,424G/C—uncertain significance
rs14464494221:42,647,426G/A—likely benign
rs37651525321:42,647,456G/T—uncertain significance
rs20067365121:42,647,477C/T—uncertain significance
rs75709782021:42,647,486C/T—uncertain significance
rs20099994921:42,647,510G/A—uncertain significance
rs76071169221:42,647,514A/G—uncertain significance
rs196492621:42,653,121A/Gdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.

BACE2 — beta-secretase 2