COPS7B
Chr 2COP9 signalosome subunit 7B
Also known as: CSN7B, SGN7b
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
65 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 26 | 4 | 0 | 30 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 26 | 34 | 0 | 60 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COPS7B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools