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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC80
coiled-coil domain containing 80
Chromosome 3 · 3q13.2
NCBI Gene: 151887Ensembl: ENSG00000091986.17HGNC: HGNC:30649UniProt: Q76M96
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
basement membranepositive regulation of cell-substrate adhesionextracellular matrix organizationinterstitial matrixatopic eczemapreeclampsiacervical carcinomaalcohol drinking
✦AI Summary

CCDC80 (coiled-coil domain containing 80) is a secreted protein that functions as a key regulator of cellular adhesion, matrix organization, and tissue homeostasis. The protein promotes cell adhesion and extracellular matrix assembly, with particular importance in maintaining vascular smooth muscle cell contractile phenotype 1. CCDC80 mechanistically interacts with JAK2 kinase, inhibiting JAK2/STAT3 signaling pathway activation, which regulates cell proliferation, migration, and phenotypic switching 12. In cardiovascular contexts, CCDC80 deficiency leads to adverse vascular remodeling and increased susceptibility to aortic dissection through loss of smooth muscle cell contractile phenotype 1. Exercise induces secretion of a C-terminal CCDC80 fragment (CCDC80tide) that provides cardioprotection against pathological cardiac remodeling 2. CCDC80 exhibits context-dependent roles in cancer, acting as a tumor suppressor in the stromal microenvironment while being associated with metastasis and chemoresistance when expressed in cancer cells 345. The protein also functions as an adipokine, with altered expression in obesity linked to metabolic dysfunction and inflammation 6. Clinically, CCDC80 represents a potential therapeutic target for cardiovascular diseases, cancer treatment, and metabolic disorders 147.

Sources cited
1
CCDC80 maintains vascular smooth muscle cell contractile phenotype and protects against aortic dissection through JAK2/STAT3 pathway regulation
PMID: 40278823
2
Exercise-induced CCDC80tide provides cardioprotection by inhibiting JAK2/STAT3 signaling
PMID: 35843176
3
CCDC80 acts as tumor suppressor in stromal microenvironment
PMID: 35422964
4
CCDC80 is associated with colorectal cancer liver metastasis and chemoresistance
PMID: 37141393
5
CCDC80 silencing inhibits gastric cancer malignant characteristics
PMID: 38872096
6
CCDC80 functions as adipokine with altered expression in obesity
PMID: 28850155
7
CCDC80 links cardiovascular diseases and fragility fractures as potential therapeutic target
PMID: 39919333
Disease Associationsⓘ20
atopic eczemaOpen Targets
0.46Moderate
preeclampsiaOpen Targets
0.32Weak
cervical carcinomaOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.23Weak
spinal fractureOpen Targets
0.23Weak
neoplasmOpen Targets
0.10Suggestive
colorectal cancerOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
femur fractureOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
colonic neoplasmOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
Hereditary breast and ovarian cancer syndromeOpen Targets
0.06Suggestive
ovarian carcinomaOpen Targets
0.06Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
gestational diabetesOpen Targets
0.05Suggestive
MODYOpen Targets
0.05Suggestive
familial adenomatous polyposis 3Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BRS3Protein interaction92%FAUProtein interaction81%VITShared pathway67%ECM2Shared pathway67%FBLN2Shared pathway50%EDIL3Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Ovary
23%
Lung
19%
Brain
2%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
CCDC80BRS3FAUVITECM2FBLN2EDIL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q76M96
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.46–0.75]
RankingsWhere CCDC80 stands among ~20K protein-coding genes
  • #10,746of 20,598
    Most Researched36
  • #5,927of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedCCDC80
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Delivery of Engineered Primary Tumor-Derived Exosomes Effectively Suppressed the Colorectal Cancer Chemoresistance and Liver Metastasis.
PMID: 37141393
ACS Nano · 2023
1.00
2
CCDC80 Protects against Aortic Dissection and Rupture by Maintaining the Contractile Smooth Muscle Cell Phenotype.
PMID: 40278823
Adv Sci (Weinh) · 2025
0.90
3
Silencing immune-infiltrating biomarker CCDC80 inhibits malignant characterization and tumor formation in gastric cancer.
PMID: 38872096
BMC Cancer · 2024
0.80
4
Exercise-derived peptide protects against pathological cardiac remodeling.
PMID: 35843176
EBioMedicine · 2022
0.70
5
HDAC inhibitors modulate Hippo pathway signaling in hormone positive breast cancer.
PMID: 40012020
Clin Epigenetics · 2025
0.60