HM13
histocompatibility minor 13
Summary
The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760643674 | 20:30,102,386 | G/T | — | uncertain significance |
| rs754444274 | 20:30,102,395 | A/T | — | uncertain significance |
| rs1223624028 | 20:30,102,427 | C/T | — | uncertain significance |
| rs746215329 | 20:30,102,449 | T/C | — | uncertain significance |
| rs1365316672 | 20:30,102,475 | C/T | — | uncertain significance |
| rs548589762 | 20:30,109,461 | G/A | — | — |
| rs769600146 | 20:30,115,341 | A/G | — | uncertain significance |
| rs771425200 | 20:30,132,791 | G/A | — | uncertain significance |
| rs2515373928 | 20:30,132,820 | T/G | — | uncertain significance |
| rs1318081253 | 20:30,132,823 | G/A | — | uncertain significance |
| rs374785220 | 20:30,136,891 | G/A | — | uncertain significance |
| rs377441140 | 20:30,136,897 | G/A | — | uncertain significance |
| rs150636757 | 20:30,136,913 | G/A | — | uncertain significance |
| rs773485726 | 20:30,154,051 | T/G | — | uncertain significance |
| rs1212555754 | 20:30,154,053 | C/T | — | uncertain significance |
| rs2515417314 | 20:30,154,091 | A/C | — | uncertain significance |
| rs11906851 | 20:30,154,237 | G/A | — | — |
| rs545804263 | 20:30,155,127 | C/T | — | — |
| rs147148369 | 20:30,155,966 | G/A | — | uncertain significance |
| rs924028940 | 20:30,155,979 | A/C | — | uncertain significance |
| rs766144942 | 20:30,156,006 | G/A | — | uncertain significance |
| rs776375973 | 20:30,156,009 | C/T | — | uncertain significance |
| rs142044038 | 20:30,156,023 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.