COPS7B
COP9 Signalosome Subunit 7B
Gene Information Card
| Symbol | COPS7B |
|---|---|
| Full Name | COP9 Signalosome Subunit 7B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 64708 ncbi.nlm.nih.gov/gene/64708 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9H9Q2 |
| OMIM ID | 616511 |
| HGNC ID | 24346 |
| Aliases | CSN7B, SGN7B, CSN7b |
Description
COPS7B encodes subunit 7B of the COP9 signalosome complex, a multifunctional protein complex involved in regulating protein degradation via the ubiquitin-proteasome pathway. The complex modulates the activity of cullin-RING E3 ubiquitin ligases by removing the ubiquitin-like protein NEDD8 from cullins (deneddylation). COPS7B is essential for proper cell cycle progression, DNA repair, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered COPS7B expression may affect deneddylation of cullins, impacting cell proliferation and survival. | PubMed: 25652308 |
| Breast cancer | Dysregulation of COP9 signalosome subunits, including COPS7B, has been linked to tumorigenesis. | PubMed: 23542377 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| HepG2 | 10.4 | Medium expression |
| MCF7 | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Potential loss of function |
| c.100C>T | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in conserved domains may impair COP9 signalosome assembly or deneddylation activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein deneddylation | • signal transduction |
| • cell cycle | • DNA repair |
| • protein ubiquitination |
Pathways
• COP9 signalosome
• Ubiquitin-proteasome pathway
• Cullin-RING ubiquitin ligase regulation
Protein Summary
COPS7B is a 275-amino acid protein that forms part of the COP9 signalosome complex. It contains a PCI domain (Proteasome, COP9, Initiation factor 3) that mediates protein-protein interactions within the complex. The protein is localized in the nucleus and cytoplasm and is involved in deneddylation of cullins, thereby regulating the activity of cullin-RING E3 ubiquitin ligases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COPS7B Knockout HEK293 Cell Line | EDJ-KQ12981 | Human | 64708 | Details Get a Quote |
| COPS7B Knockout A-549 Cell Line | EDJ-KQ42213 | Human | 64708 | Details Get a Quote |
| COPS7B Knockout HCT 116 Cell Line | EDJ-KQ42214 | Human | 64708 | Details Get a Quote |
| COPS7B Knockout HeLa Cell Line | EDJ-KQ42215 | Human | 64708 | Details Get a Quote |
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