WDFY4

Chr 10

WDFY family member 4

Also known as: C10orf64

NCBI Gene: 57705 ENSG00000128815 UniProt: Q6ZS81 OMIM: 613316

The WDFY4 protein regulates cross-presentation of viral and tumor antigens in dendritic cells and plays a role in B-cell survival through autophagy regulation. Mutations cause autosomal recessive primary immunodeficiency with susceptibility to viral infections and potential tumor predisposition. The gene is highly constrained against loss-of-function variants (LOEUF 0.304), suggesting that complete protein loss is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in antigen processing and presentation. Predicted to act upstream of or within with a positive effect on CD8-positive, alpha-beta T cell activation. Predicted to act upstream of or within cellular response to virus. Predicted to be located in early endosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.30

LOEUF· LoF intol.

—

Mechanism