SHISA5
shisa family member 5
Summary
This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372768781 | 3:48,510,537 | G/A | — | uncertain significance |
| rs377686826 | 3:48,510,783 | G/A | — | uncertain significance |
| rs777605997 | 3:48,510,826 | T/C | — | uncertain significance |
| rs139034654 | 3:48,510,831 | T/C | — | uncertain significance |
| rs140407949 | 3:48,510,906 | G/A | — | uncertain significance |
| rs776149395 | 3:48,510,931 | G/A | — | uncertain significance |
| rs1367009238 | 3:48,510,943 | C/T | — | uncertain significance |
| rs374802367 | 3:48,511,138 | C/T | — | uncertain significance |
| rs149310132 | 3:48,511,144 | G/A | — | likely benign |
| rs2530073151 | 3:48,511,154 | G/T | — | uncertain significance |
| rs187370645 | 3:48,512,188 | C/T | — | — |
| rs576345181 | 3:48,515,554 | T/A | — | — |
| rs1473018571 | 3:48,520,626 | C/T | — | uncertain significance |
| rs2530133351 | 3:48,520,653 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.