HSPA8
heat shock protein family A (Hsp70) member 8
Summary
This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2539880386 | 11:122,928,509 | A/T | — | uncertain significance |
| rs780546314 | 11:122,928,537 | C/T | — | uncertain significance |
| rs746441724 | 11:122,929,478 | T/C | — | uncertain significance |
| rs1461496 | 11:122,929,624 | A/G | coding sequence variant | — |
| rs142431740 | 11:122,930,227 | T/C | — | benign |
| rs115882568 | 11:122,930,296 | G/A | — | benign |
| rs2539888408 | 11:122,930,459 | C/T | — | uncertain significance |
| rs770238029 | 11:122,930,514 | G/A | — | uncertain significance |
| rs569651128 | 11:122,930,966 | T/C | — | uncertain significance |
| rs147610984 | 11:122,931,337 | T/C | — | benign |
| rs140536048 | 11:122,931,379 | G/C | — | benign |
| rs10892958 | 11:122,932,123 | C/A | — | — |
| rs2276074 | 11:122,932,776 | G/C | regulatory region variant | — |
| rs2276077 | 11:122,932,817 | C/A | — | — |
| rs2236659 | 11:122,933,181 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.