COPS8
Chr 2COP9 signalosome subunit 8
Also known as: COP9, CSN8, SGN8
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
121 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 | 73 | 0 | 73 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 27 | 7 | 0 | 34 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 27 | 81 | 0 | 108 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COPS8 · 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