COPS8: COP9 Signalosome Subunit 8
A core component of the COP9 signalosome complex involved in protein degradation and cellular signaling
Gene Information Card
| Symbol | COPS8 |
|---|---|
| Full Name | COP9 signalosome subunit 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 10920 ncbi.nlm.nih.gov/gene/10920 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q99627 |
| OMIM ID | 616511 |
| HGNC ID | 24356 |
| Aliases | CSN8, SGN8, COP9 complex subunit 8 |
Description
COPS8 encodes subunit 8 of the COP9 signalosome (CSN), a multiprotein complex that regulates the ubiquitin-proteasome pathway by controlling the activity of cullin-RING E3 ubiquitin ligases. CSN8 is essential for complex assembly and stability, and its dysfunction is linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | COPS8 overexpression promotes cell proliferation and inhibits apoptosis via enhanced CSN activity | PMID: 23434587 |
| Breast cancer | COPS8 amplification correlates with poor prognosis and increased tumor growth | PMID: 21573162 |
| Lung cancer | COPS8 upregulation associated with chemoresistance and metastasis | PMID: 26045164 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 8.2 | Low |
| Liver | 7.5 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| A549 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.214C>T | Nonsense | <0.01% | Loss of function |
| c.347G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) are predicted to cause loss of function by introducing a premature stop codon.
Gain of Function (GOF)
No gain-of-function mutations have been reported for COPS8.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for COPS8.
View complete mutation data：
Gene Ontology (GO)
Pathways
• COP9 signalosome (KEGG: hsa03050)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
COPS8 (CSN8) is a 209-amino acid protein that forms part of the COP9 signalosome complex. It contains a PCI domain that mediates interactions with other CSN subunits. CSN8 is critical for maintaining complex integrity and regulating cullin deneddylation, thereby controlling the activity of cullin-RING E3 ligases and subsequent protein degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COPS8 Knockout HEK293 Cell Line | EDJ-KQ51019 | Human | 10920 | Details Get a Quote |
| COPS8 Knockout HeLa Cell Line | EDJ-KQ55527 | Human | 10920 | Details Get a Quote |
| COPS8 Knockout A-549 Cell Line | EDJ-KQ64017 | Human | 10920 | Details Get a Quote |
| COPS8 Knockout HCT 116 Cell Line | EDJ-KQ72468 | Human | 10920 | Details Get a Quote |
