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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COL5A3
collagen type V alpha 3 chain
Chromosome 19 · 19p13.2
NCBI Gene: 50509Ensembl: ENSG00000080573.7HGNC: HGNC:14864UniProt: P25940
26PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixextracellular matrix structural constituent conferring tensile strengthskeletal system morphogenesiscollagen fibril organizationDupuytren ContractureSkin ulcereye diseaseulcer disease
✦AI Summary

COL5A3 encodes the alpha-3 chain of type V collagen, a minor fibrillar collagen component distributed throughout connective tissues that functions as an extracellular matrix structural constituent conferring tensile strength 1. Its expression is regulated by the transcription factor CBF/NF-Y binding to the core promoter region, with additional repressor proteins modulating gene activity 1. COL5A3 plays roles in multiple physiological processes. In skin and musculoskeletal development, it contributes to collagen fibril organization and extracellular matrix assembly 2. In inflammatory arthritis, COL5A3 is expressed by fibroblast subsets involved in extracellular matrix remodeling 2. The gene interacts functionally with MMP9 in eczema susceptibility, with MMP9-mediated degradation of COL5A3 influencing disease risk 3. Clinically, COL5A3 dysregulation associates with cancer progression. The gene is upregulated in high-grade serous ovarian cancer metastases 4 and in glioblastoma-influenced endothelial cells, correlating with patient survival outcomes 5. A six-gene signature incorporating COL5A3 predicts prostate cancer prognosis 6. Additionally, COL5A3 knockdown increases lipid accumulation in adipose tissue, suggesting roles in metabolic regulation 7. COL5A3 shows differential methylation in autism spectrum disorder 8, indicating potential neurodevelopmental relevance.

Sources cited
1
COL5A3 promoter regulation by CBF/NF-Y transcription factor and repressor proteins
PMID: 15316020
2
COL5A3 and MMP9 gene interaction in eczema susceptibility; MMP9 degradation of COL5A3
PMID: 29168291
3
COL5A3 upregulation in high-grade serous ovarian cancer metastatic tumors
PMID: 37284741
4
COL5A3 expression in fibroblast subsets involved in extracellular matrix remodeling in inflammatory arthritis
PMID: 38832018
5
COL5A3 upregulation in glioblastoma-influenced endothelial cells and correlation with patient survival
PMID: 38775886
6
COL5A3 knockdown increases lipid accumulation in white adipose tissue cell lines
PMID: 40912257
7
COL5A3 differential methylation identified in autism spectrum disorder
PMID: 35353793
8
COL5A3 inclusion in six-gene signature predicting prostate cancer prognosis
PMID: 41088372
Disease Associationsⓘ20
Dupuytren ContractureOpen Targets
0.59Moderate
Skin ulcerOpen Targets
0.46Moderate
eye diseaseOpen Targets
0.44Moderate
ulcer diseaseOpen Targets
0.42Moderate
Peyronie diseaseOpen Targets
0.38Weak
Penile FibromatosisOpen Targets
0.37Weak
Abnormal retinal morphologyOpen Targets
0.37Weak
Abnormality of connective tissueOpen Targets
0.37Weak
bacterial diseaseOpen Targets
0.37Weak
Palmar FibromatosisOpen Targets
0.37Weak
sarcoidosisOpen Targets
0.37Weak
decubitus ulcerOpen Targets
0.26Weak
macular holesOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.19Weak
response to paracetamolOpen Targets
0.18Weak
hereditary spastic paraplegiaOpen Targets
0.12Weak
keratoconusOpen Targets
0.12Weak
frozen shoulderOpen Targets
0.10Weak
alcohol drinkingOpen Targets
0.09Suggestive
lipomaOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
COLLAGENASE CLOSTRIDIUM HISTOLYTICUMApproved
Collagen hydrolytic enzyme
ulcer disease
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
COL4A1Protein interaction83%COL2A1Protein interaction80%COL6A1Protein interaction80%COL6A2Protein interaction80%COL12A1Protein interaction80%COL16A1Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Lung
79%
Liver
72%
Ovary
40%
Brain
17%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
COL5A3COL4A1COL2A1COL6A1COL6A2COL12A1COL16A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P25940
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.63–0.81]
RankingsWhere COL5A3 stands among ~20K protein-coding genes
  • #12,760of 20,598
    Most Researched26
  • #691of 1,025
    FDA-Approved Drug Targets2
  • #6,836of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedCOL5A3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The transcription factor CCAAT-binding factor CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (COL5A3).
PMID: 15316020
J Biol Chem · 2004
1.00
2
The COL5A3 and MMP9 genes interact in eczema susceptibility.
PMID: 29168291
Clin Exp Allergy · 2018
0.90
3
Characterization of candidate factors associated with the metastasis and progression of high-grade serous ovarian cancer.
PMID: 37284741
Chin Med J (Engl) · 2023
0.80
4
Molecular maps of synovial cells in inflammatory arthritis using an optimized synovial tissue dissociation protocol.
PMID: 38832018
iScience · 2024
0.70
5
Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis.
PMID: 38775886
Neurogenetics · 2024
0.60