HLA-F
major histocompatibility complex, class I, F
Summary
This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9258177 | 6:29,690,539 | G/T | — | — |
| rs374197706 | 6:29,693,049 | C/T | — | likely benign |
| rs1405929879 | 6:29,693,061 | C/G | — | likely benign |
| rs885946 | 6:29,696,657 | T/C | downstream gene variant | — |
| rs885945 | 6:29,696,852 | C/T | downstream gene variant | — |
| rs60581484 | 6:29,697,314 | T/A | — | — |
| rs1611349 | 6:29,698,661 | G/C | — | — |
| rs2523395 | 6:29,702,510 | G/T | — | — |
| rs1736913 | 6:29,704,400 | T/G | coding sequence variant | — |
| rs2523393 | 6:29,705,659 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.