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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1174890054 | 21:42,540,276 | T/C | — | uncertain significance |
| rs2516878111 | 21:42,540,285 | C/A | — | uncertain significance |
| rs369963511 | 21:42,540,301 | G/A | — | benign |
| rs778166744 | 21:42,540,329 | C/T | — | uncertain significance |
| rs2516878277 | 21:42,540,338 | G/A | — | uncertain significance |
| rs200758268 | 21:42,540,356 | C/T | — | benign |
| rs1188221428 | 21:42,540,381 | T/A | — | uncertain significance |
| rs376619639 | 21:42,540,454 | T/A | — | likely benign |
| rs2516878522 | 21:42,540,475 | G/C | — | uncertain significance |
| rs8127156 | 21:42,543,403 | C/G | regulatory region variant | — |
| rs7277920 | 21:42,575,415 | T/C | intron variant | — |
| rs550156710 | 21:42,576,844 | A/G | — | — |
| rs549803881 | 21:42,577,753 | A/G | — | — |
| rs6517656 | 21:42,583,738 | G/A | intron variant | — |
| rs28360503 | 21:42,583,804 | G/T | — | — |
| rs755735530 | 21:42,598,242 | C/T | — | uncertain significance |
| rs369116567 | 21:42,609,471 | G/C | — | uncertain significance |
| rs150489465 | 21:42,609,527 | C/T | — | likely benign |
| rs2516931350 | 21:42,609,609 | A/G | — | uncertain significance |
| rs1432365556 | 21:42,609,637 | C/G | — | uncertain significance |
| rs773077427 | 21:42,613,822 | T/C | — | uncertain significance |
| rs750825869 | 21:42,613,858 | C/T | — | uncertain significance |
| rs2252576 | 21:42,615,293 | C/T | — | benign |
| rs376701209 | 21:42,617,895 | G/A | — | uncertain significance |
| rs375722579 | 21:42,617,980 | G/A | — | uncertain significance |
| rs1396519038 | 21:42,617,982 | G/A | — | likely benign |
| rs2516939219 | 21:42,617,989 | T/C | — | uncertain significance |
| rs528502104 | 21:42,620,406 | C/T | — | — |
| rs1046210 | 21:42,622,786 | T/C | — | benign |
| rs771012836 | 21:42,622,800 | G/A | — | uncertain significance |
| rs542101700 | 21:42,626,833 | C/T | — | — |
| rs73368323 | 21:42,629,075 | C/T | — | benign |
| rs371254480 | 21:42,629,183 | G/A | — | likely benign |
| rs1418222703 | 21:42,629,202 | A/G | — | likely benign |
| rs2516948935 | 21:42,629,215 | C/T | — | uncertain significance |
| rs1322689391 | 21:42,629,239 | C/G | — | uncertain significance |
| rs755433935 | 21:42,633,819 | A/G | — | — |
| rs6517660 | 21:42,647,290 | C/T | — | benign |
| rs2516961310 | 21:42,647,342 | A/G | — | uncertain significance |
| rs149345353 | 21:42,647,372 | G/A | — | likely benign |
| rs370287070 | 21:42,647,391 | C/G | — | uncertain significance |
| rs1568897022 | 21:42,647,424 | G/C | — | uncertain significance |
| rs144644942 | 21:42,647,426 | G/A | — | likely benign |
| rs376515253 | 21:42,647,456 | G/T | — | uncertain significance |
| rs200673651 | 21:42,647,477 | C/T | — | uncertain significance |
| rs757097820 | 21:42,647,486 | C/T | — | uncertain significance |
| rs200999949 | 21:42,647,510 | G/A | — | uncertain significance |
| rs760711692 | 21:42,647,514 | A/G | — | uncertain significance |
| rs1964926 | 21:42,653,121 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.