CAPN9
calpain 9
Summary
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2527785142 | 1:230,883,255 | T/C | — | likely benign |
| rs199941171 | 1:230,883,258 | C/T | — | uncertain significance |
| rs754568420 | 1:230,883,259 | G/T | — | uncertain significance |
| rs930312098 | 1:230,883,338 | G/A | — | uncertain significance |
| rs529848168 | 1:230,883,411 | T/G | — | uncertain significance |
| rs2527786580 | 1:230,883,445 | A/C | — | uncertain significance |
| rs200358258 | 1:230,891,089 | G/A | — | uncertain significance |
| rs377009492 | 1:230,891,129 | C/T | — | uncertain significance |
| rs1180210132 | 1:230,891,136 | C/G | — | uncertain significance |
| rs2527829232 | 1:230,891,147 | A/T | — | uncertain significance |
| rs1470480286 | 1:230,895,262 | C/G | — | uncertain significance |
| rs372966497 | 1:230,895,263 | T/G | — | uncertain significance |
| rs150220094 | 1:230,895,277 | C/T | — | likely benign |
| rs1665489769 | 1:230,895,290 | C/T | — | uncertain significance |
| rs370370799 | 1:230,895,294 | C/T | — | uncertain significance |
| rs1048809170 | 1:230,895,296 | C/T | — | uncertain significance |
| rs1478556405 | 1:230,895,317 | A/G | — | uncertain significance |
| rs771996294 | 1:230,895,350 | G/A | — | uncertain significance |
| rs995530212 | 1:230,895,362 | A/T | — | uncertain significance |
| rs150539773 | 1:230,895,364 | A/T | — | likely benign |
| rs146533603 | 1:230,898,435 | G/A | — | uncertain significance |
| rs572206186 | 1:230,898,489 | C/T | — | uncertain significance |
| rs984018565 | 1:230,903,402 | G/A | — | uncertain significance |
| rs747249590 | 1:230,903,429 | G/T | — | uncertain significance |
| rs773118500 | 1:230,904,953 | C/T | — | uncertain significance |
| rs144353051 | 1:230,904,981 | A/G | — | uncertain significance |
| rs28359655 | 1:230,907,799 | C/T | — | likely benign |
| rs375003971 | 1:230,907,805 | C/T | — | uncertain significance |
| rs200448422 | 1:230,907,841 | G/A | — | uncertain significance |
| rs781118732 | 1:230,910,361 | G/C | — | uncertain significance |
| rs373024313 | 1:230,914,750 | G/A | — | uncertain significance |
| rs140805668 | 1:230,914,771 | C/T | — | uncertain significance |
| rs753743813 | 1:230,914,799 | C/T | — | uncertain significance |
| rs148341318 | 1:230,914,853 | C/T | — | uncertain significance |
| rs150463113 | 1:230,914,867 | C/T | — | uncertain significance |
| rs144137595 | 1:230,914,868 | G/A | — | uncertain significance |
| rs542860265 | 1:230,916,015 | A/G | — | uncertain significance |
| rs1395641188 | 1:230,916,053 | G/A | — | likely benign |
| rs548167059 | 1:230,916,287 | A/C | — | uncertain significance |
| rs777579811 | 1:230,916,298 | C/T | — | uncertain significance |
| rs757797236 | 1:230,916,360 | C/A | — | uncertain significance |
| rs140053974 | 1:230,921,572 | G/A | regulatory region variant | — |
| rs771333487 | 1:230,921,728 | G/C | — | uncertain significance |
| rs1667556109 | 1:230,921,741 | A/G | — | uncertain significance |
| rs781372296 | 1:230,921,749 | A/G | — | uncertain significance |
| rs12038826 | 1:230,922,951 | T/C | intron variant | — |
| rs780593179 | 1:230,923,320 | G/A | — | uncertain significance |
| rs142552467 | 1:230,923,323 | C/A | — | uncertain significance |
| rs1436261498 | 1:230,923,328 | T/C | — | uncertain significance |
| rs139326872 | 1:230,923,340 | G/A | — | uncertain significance |
| rs143145032 | 1:230,925,937 | T/G | — | uncertain significance |
| rs541625770 | 1:230,927,669 | A/G | — | uncertain significance |
| rs537600233 | 1:230,928,178 | G/A | — | uncertain significance |
| rs768838534 | 1:230,928,199 | G/A | — | uncertain significance |
| rs190359189 | 1:230,928,616 | T/A | — | uncertain significance |
| rs1668103942 | 1:230,928,642 | C/T | — | uncertain significance |
| rs376872376 | 1:230,931,008 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.