HLA-F
Chr 6major histocompatibility complex, class I, F
Also known as: CDA12, HLA-5.4, HLA-CDA12, HLAF
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]
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HLA-F · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Clinical Phase II/III Trial of Ustekinumab to Treat Type 1 Diabetes (UST1D2)
ACTIVE NOT RECRUITINGPersonalized NK Cell Therapy in CBT
RECRUITINGTrifecta-Lung cfDNA-MMDx Study
RECRUITINGCharacterization of Immune Genotypes and Antibody Profiles to Foster the discoVERY of diagnosticbioMARKERS of Liver Cancer Development
RECRUITINGMulticenter, Interdisciplinary National VEXAS Registry With Accompanying Biomaterial Collection
RECRUITINGTrifecta-Heart cfDNA-MMDx Study
RECRUITINGExternal Resources
Links to major genomics databases and tools