COPS3

Chr 17

COP9 signalosome subunit 3

Also known as: CSN3, SGN3

NCBI Gene: 8533 ENSG00000141030 UniProt: Q9UNS2 OMIM: 604665

The COPS3 protein is a component of the COP9 signalosome complex that regulates protein degradation pathways by controlling ubiquitin ligase activity and phosphorylating key signaling proteins including p53 and c-Jun. Mutations in COPS3 cause autosomal dominant syndromic intellectual disability with developmental delay and dysmorphic features. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

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)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted