COPS8

Chr 2

COP9 signalosome subunit 8

Also known as: COP9, CSN8, SGN8

NCBI Gene: 10920 ENSG00000198612 UniProt: Q99627 OMIM: 616011

The COPS8 protein is a subunit of the COP9 signalosome complex that regulates ubiquitin-mediated protein degradation by controlling E3 ligase activity and phosphorylating key cellular proteins including p53. The gene is highly constrained against loss-of-function variants (LOEUF 0.486), but specific diseases associated with COPS8 mutations have not been established in the current literature. Inheritance pattern for potential COPS8-related disorders remains to be determined.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

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

0.49

LOEUF

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Mechanism