DCAF15

Chr 19

DDB1 and CUL4 associated factor 15

Also known as: C19orf72

NCBI Gene: 90379 ENSG00000132017 UniProt: Q66K64

The protein serves as a substrate-recognition component of a cullin-4-RING E3 ubiquitin ligase complex that regulates natural killer cell function by mediating ubiquitination and degradation of target proteins including cohesin subunits. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Enables small molecule binding activity. Involved in protein polyubiquitination and regulation of natural killer cell activation. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

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)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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