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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COPS7A
COP9 signalosome subunit 7A
Chromosome 12 · 12p13.31
NCBI Gene: 50813Ensembl: ENSG00000111652.11HGNC: HGNC:16758UniProt: Q9UBW8
105PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein deneddylationnucleusnucleoplasmneurodegenerative diseasemetabolic syndromehead and neck squamous cell carcinomatype 2 diabetes mellitus
✦AI Summary

COPS7A (COP9 signalosome subunit 7A) is a core component of the COP9 signalosome (CSN) complex, a multi-subunit regulatory complex involved in ubiquitin-dependent protein degradation pathways. The CSN complex mediates deneddylation of cullin subunits in E3 ligase complexes, thereby regulating their ubiquitin ligase activity. COPS7A contributes to CSN-dependent phosphorylation of key signaling proteins, including IκBα, leading to modulation of NF-κB pathway activity 1. The gene's expression is dysregulated across multiple disease contexts, suggesting broad pathophysiological relevance. In gastric cancer, COPS7A is functionally important for NF-κB signaling regulation and tumor progression 1, while it is significantly upregulated in asthenozoospermia 2. COPS7A has been identified as a component of prognostic signatures in colon cancer 3 and dilated cardiomyopathy 4, and serves as a biomarker in obsessive-compulsive disorder diagnosis 5. Interestingly, COPS7A expression is consistently downregulated across autism, schizophrenia, and bipolar disorder in cortical tissue 6, suggesting potential neurodevelopmental significance. COPS7A is also implicated in Pallister-Killian syndrome pathogenesis through overexpression associated with tetrasomy 12p 7. These findings indicate COPS7A functions as a critical signaling hub with disease relevance extending from cancer biology to neuropsychiatric and developmental disorders.

Sources cited
1
COPS7A promotes deubiquitinylation of IκBα and inactivates NF-κB signaling; dysregulation contributes to gastric cancer proliferation and metastasis
PMID: 31409899
2
COPS7A is significantly upregulated in asthenozoospermia patients compared to normal samples
PMID: 36471356
3
COPS7A is part of a six-gene blood transcriptomic signature that distinguishes OCD from healthy controls and other psychiatric disorders
PMID: 30350918
4
COPS7A is one of four centrosome-related genes in a prognostic signature predicting colon cancer prognosis and treatment response
PMID: 38764831
5
COPS7A is a hub gene biomarker identified through weighted gene coexpression network analysis in dilated cardiomyopathy
PMID: 36042172
6
COPS7A is consistently downregulated across autism, schizophrenia, and bipolar disorder in cortical brain tissue
PMID: 27219343
7
COPS7A is overexpressed in Pallister-Killian syndrome cells with tetrasomy 12p due to partial dosage compensation
PMID: 26890086
8
COPS7A identified as a candidate predisposition gene in Chronic Lymphocytic Leukemia using rare variant association analysis
PMID: 33606672
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
metabolic syndromeOpen Targets
0.03Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
asthmaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
AllergyOpen Targets
0.01Suggestive
Reduced sperm motilityOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
urinary bladder carcinomaOpen Targets
0.01Suggestive
anaphylaxisOpen Targets
0.01Suggestive
allergic diseaseOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
allergic rhinitisOpen Targets
0.00Suggestive
major depressive disorderOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NEDD8Protein interaction100%CRBNProtein interaction100%CUL3Protein interaction100%DDB1Protein interaction100%CUL1Protein interaction100%GRB2Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
60%
Brain
52%
Lung
48%
Ovary
44%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
COPS7ANEDD8CRBNCUL3DDB1CUL1GRB2
PROTEIN STRUCTURE
Preparing viewer…
PDB4D10 · 3.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.38–0.78]
RankingsWhere COPS7A stands among ~20K protein-coding genes
  • #4,518of 20,598
    Most Researched105 · top quartile
  • #6,375of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCOPS7A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Long non-coding RNA KRT19P3 suppresses proliferation and metastasis through COPS7A-mediated NF-κB pathway in gastric cancer.
PMID: 31409899
Oncogene · 2019
1.00
2
Bioinformatics analysis identifies potential hub genes and crucial pathways in the pathogenesis of asthenozoospermia.
PMID: 36471356
BMC Med Genomics · 2022
0.90
3
Blood-based dynamic genomic signature for obsessive-compulsive disorder.
PMID: 30350918
Am J Med Genet B Neuropsychiatr Genet · 2018
0.80
4
Four centrosome-related genes to predict the prognosis and drug sensitivity of patients with colon cancer.
PMID: 38764831
World J Gastrointest Oncol · 2024
0.70
5
Identification of Potential Biomarkers Associated with Dilated Cardiomyopathy by Weighted Gene Coexpression Network Analysis.
PMID: 36042172
Front Biosci (Landmark Ed) · 2022
0.60