HLA-F

Chr 6

major 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]

ResearchGenerating clinical summary…
6
Active trials
29
Pubs (1 yr)
P/LP submissions
P/LP missense
0.93
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.78
OE 0.55 (0.340.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.10Z-score
OE missense 0.81 (0.720.91)
207 obs / 256.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.340.93)
00.351.4
Missense OE?0.81 (0.720.91)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 10 / 18.2Missense obs/exp: 207 / 256.7Syn Z: 0.37

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.