APLP2
amyloid beta precursor like protein 2
Summary
This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73583419 | 11:129,939,390 | C/A | regulatory region variant | — |
| rs776174946 | 11:129,939,970 | A/C | — | uncertain significance |
| rs79537552 | 11:129,940,743 | C/T | regulatory region variant | — |
| rs10894174 | 11:129,945,509 | A/G | downstream gene variant | — |
| rs7941615 | 11:129,946,259 | T/C | downstream gene variant | — |
| rs10431049 | 11:129,957,770 | T/C | — | — |
| rs188663068 | 11:129,978,749 | G/A | intron variant | — |
| rs921201292 | 11:129,979,468 | A/G | — | uncertain significance |
| rs146181031 | 11:129,979,475 | A/T | — | uncertain significance |
| rs139145033 | 11:129,979,476 | A/T | — | uncertain significance |
| rs747180 | 11:129,990,587 | A/G | intron variant | — |
| rs142413500 | 11:129,990,612 | G/A | — | uncertain significance |
| rs368746535 | 11:129,990,638 | A/T | — | uncertain significance |
| rs144762473 | 11:129,990,664 | G/A | — | uncertain significance |
| rs373928005 | 11:129,990,684 | C/T | — | uncertain significance |
| rs781481027 | 11:129,991,516 | T/G | — | uncertain significance |
| rs190276777 | 11:129,991,572 | C/G | — | uncertain significance |
| rs565247278 | 11:129,991,657 | A/G | — | uncertain significance |
| rs1347694925 | 11:129,991,664 | G/T | — | uncertain significance |
| rs1949856874 | 11:129,991,695 | G/A | — | likely benign |
| rs746669595 | 11:129,992,216 | G/A | — | uncertain significance |
| rs764275568 | 11:129,992,298 | G/A | — | uncertain significance |
| rs1949935141 | 11:129,992,364 | G/C | — | uncertain significance |
| rs2298587 | 11:129,992,417 | A/C | — | benign |
| rs750314819 | 11:129,993,542 | C/T | — | uncertain significance |
| rs576304274 | 11:129,993,557 | C/T | — | uncertain significance |
| rs141638912 | 11:129,993,558 | G/A | — | uncertain significance |
| rs375730738 | 11:129,993,569 | G/A | — | uncertain significance |
| rs1565590417 | 11:129,993,586 | G/T | — | uncertain significance |
| rs764649597 | 11:129,993,590 | G/C | — | uncertain significance |
| rs372001669 | 11:129,993,630 | A/G | — | uncertain significance |
| rs146199947 | 11:129,993,635 | G/C | — | uncertain significance |
| rs777059296 | 11:129,993,642 | A/T | — | uncertain significance |
| rs1286666764 | 11:129,993,669 | C/T | — | uncertain significance |
| rs752582093 | 11:129,993,672 | T/C | — | uncertain significance |
| rs2054247 | 11:129,995,706 | G/C | — | — |
| rs772546391 | 11:129,996,619 | A/G | — | uncertain significance |
| rs985569106 | 11:129,996,649 | C/T | — | uncertain significance |
| rs529617034 | 11:129,996,715 | G/A | — | uncertain significance |
| rs143884497 | 11:129,997,697 | A/G | — | uncertain significance |
| rs765555441 | 11:129,997,710 | A/G | — | uncertain significance |
| rs1033060111 | 11:129,998,980 | C/T | — | uncertain significance |
| rs200359846 | 11:129,998,986 | G/A | — | uncertain significance |
| rs144823565 | 11:129,999,940 | G/A | — | uncertain significance |
| rs772563127 | 11:129,999,969 | C/T | — | uncertain significance |
| rs1282059328 | 11:130,000,036 | A/G | — | uncertain significance |
| rs2540605248 | 11:130,003,529 | G/A | — | uncertain significance |
| rs770793023 | 11:130,003,561 | A/G | — | uncertain significance |
| rs145214499 | 11:130,005,478 | C/T | — | uncertain significance |
| rs201180921 | 11:130,005,488 | T/C | — | uncertain significance |
| rs776609350 | 11:130,005,529 | G/A | — | uncertain significance |
| rs756652591 | 11:130,005,547 | G/A | — | uncertain significance |
| rs749891054 | 11:130,005,560 | T/A | — | uncertain significance |
| rs368879297 | 11:130,005,570 | C/G | — | uncertain significance |
| rs1159555187 | 11:130,005,596 | T/C | — | uncertain significance |
| rs145470024 | 11:130,007,153 | A/G | — | uncertain significance |
| rs148000494 | 11:130,007,160 | C/T | — | uncertain significance |
| rs577684074 | 11:130,007,177 | A/G | — | uncertain significance |
| rs3740881 | 11:130,010,313 | G/A | missense variant | — |
| rs371218526 | 11:130,010,387 | G/A | — | benign |
| rs776057355 | 11:130,011,402 | G/C | — | uncertain significance |
| rs572964863 | 11:130,011,433 | A/G | — | uncertain significance |
| rs200563658 | 11:130,011,466 | G/A | — | uncertain significance |
| rs1347086802 | 11:130,011,859 | G/A | — | uncertain significance |
| rs367626362 | 11:130,011,907 | G/A | — | uncertain significance |
| rs745958507 | 11:130,013,256 | C/T | — | likely benign |
| rs772107391 | 11:130,013,338 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.