COPS7B

Chr 2

COP9 signalosome subunit 7B

Also known as: CSN7B, SGN7b

NCBI Gene: 64708 ENSG00000144524 UniProt: Q9H9Q2 OMIM: 616010

The COPS7B protein is a component of the COP9 signalosome complex that regulates protein degradation by removing nedd8 modifications from cullin proteins in E3 ubiquitin ligase complexes. Mutations cause autosomal recessive neurodevelopmental disorder with hypotonia, seizures, and brain abnormalities including delayed myelination and corpus callosum abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.488), consistent with its essential role in cellular protein regulation.

OMIM ResearchSummary from RefSeq, UniProt

Involved in protein deneddylation. Located in nucleoplasm. Part of COP9 signalosome. [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)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism