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

rsidPosition (GRCh37)AllelesClassClinVar
rs92581776:29,690,539G/T
rs3741977066:29,693,049C/Tlikely benign
rs14059298796:29,693,061C/Glikely benign
rs8859466:29,696,657T/Cdownstream gene variant
rs8859456:29,696,852C/Tdownstream gene variant
rs605814846:29,697,314T/A
rs16113496:29,698,661G/C
rs25233956:29,702,510G/T
rs17369136:29,704,400T/Gcoding sequence variant
rs25233936:29,705,659A/Gregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.