COPS7A

Chr 12

COP9 signalosome subunit 7A

Also known as: CSN7, CSN7A, SGN7a

NCBI Gene: 50813 ENSG00000111652 UniProt: Q9UBW8 OMIM: 616009

The COPS7A protein is a component of the COP9 signalosome complex, which regulates the ubiquitin conjugation pathway by controlling the activity of E3 ligase complexes and is involved in phosphorylation of key cellular proteins including p53. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies, typically presenting in early childhood. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.685), consistent with its role in essential cellular regulatory processes.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]

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

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P/LP missense

0.69

LOEUF

Mechanism· predicted