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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COL5A2
collagen type V alpha 2 chain
Chromosome 2 Β· 2q32.2
NCBI Gene: 1290Ensembl: ENSG00000204262.15HGNC: HGNC:2210UniProt: P05997
82PubMed Papers
21Diseases
2Drugs
63Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
collagen fibril organizationnegative regulation of endodermal cell differentiationextracellular matrixextracellular matrix structural constituent conferring tensile strengthEhlers-Danlos syndrome, classic type, 2Ehlers-Danlos syndrome, classic typeEhlers-Danlos syndrome, classic type, 1Ehlers-Danlos syndrome type 1
✦AI Summary

COL5A2 encodes the alpha-2 chain of type V collagen, a fibrillar collagen that serves as a minor but critical connective tissue component with widespread distribution 1. Type V collagen functions as a key determinant in tissue-specific matrix assembly and binds multiple molecules including DNA, heparan sulfate, thrombospondin, and heparin. It provides extracellular matrix structural integrity conferring tensile strength and participates in collagen fibril organization [GO annotations]. COL5A2 is prominently associated with classic Ehlers-Danlos syndrome, where approximately 50% of patients harbor mutations in COL5A1 or COL5A2, typically resulting in haploinsufficiency or production of functionally defective type V collagen 1. Beyond connective tissue disorders, COL5A2 emerges as a disease-relevant gene in multiple pathologies: it is upregulated in gastric cancer and correlates with poor prognosis and reduced immunotherapy benefit 2; functions as a cancer-associated fibroblast biomarker in ovarian cancer with prognostic significance 3; is elevated in endometrial fibrosis associated with intrauterine adhesions 4; is stress-responsive in aortic smooth muscle cells protecting against aneurysm and dissection 5; and is upregulated in cerebral aneurysm tissue and calcific aortic valve disease 67. These findings highlight COL5A2's critical role in both physiological matrix homeostasis and pathological fibrotic and vascular remodeling processes.

Sources cited
1
COL5A2 mutations cause approximately 50% of classic Ehlers-Danlos syndrome cases, typically through haploinsufficiency or production of functionally defective type V collagen
PMID: 20847697
2
COL5A2 is a hub gene associated with gastric cancer progression and poor prognosis, identified through WGCNA analysis
PMID: 37461041
3
COL5A2 is a cancer-associated fibroblast biomarker in ovarian cancer with prognostic significance for patient outcomes
PMID: 35874760
4
COL5A2 is a fibrotic progression marker significantly increased in endometrial tissue of intrauterine adhesion patients
PMID: 36893290
5
COL5A2 (Col5a2) is stress-responsive in aortic smooth muscle cells and upregulated during adaptive response protecting against aortic aneurysm and dissection
PMID: 36579645
6
COL5A2 is among the most upregulated genes in unruptured human cerebral aneurysm tissue
PMID: 26918470
7
COL5A2 is identified as a biomarker associated with calcific aortic valve disease in the context of type 2 diabetes
PMID: 39749331
8
COL5A2 is included in ACMG/AMP genetic criteria specifications for hereditary connective tissue disorders featuring joint hypermobility
PMID: 37079061
Disease Associationsβ“˜21
Ehlers-Danlos syndrome, classic type, 2Open Targets
0.75Strong
Ehlers-Danlos syndrome, classic typeOpen Targets
0.74Strong
Ehlers-Danlos syndrome, classic type, 1Open Targets
0.66Moderate
Ehlers-Danlos syndrome type 1Open Targets
0.64Moderate
Dupuytren ContractureOpen Targets
0.59Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
Ehlers-Danlos syndrome type 2Open Targets
0.48Moderate
osteoarthritis, hipOpen Targets
0.46Moderate
multisystemic smooth muscle dysfunction syndromeOpen Targets
0.46Moderate
Skin ulcerOpen Targets
0.46Moderate
Ehlers-Danlos syndromeOpen Targets
0.46Moderate
eye diseaseOpen Targets
0.44Moderate
ulcer diseaseOpen Targets
0.42Moderate
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.40Moderate
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
sarcoidosisOpen Targets
0.37Weak
Ehlers-Danlos syndrome, classic type, 2UniProt
Pathogenic Variants63
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)Pathogenic
Telecanthus;Neuropathic spinal arthropathy;Joint hypermobility;Hyperextensible skin|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, classic type, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 252
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)Pathogenic
Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, classic type, 2|Squamous cell lung carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 659
NM_000393.5(COL5A2):c.3309+1G>APathogenic
Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, classic type, 2
β˜…β˜…β˜†β˜†2025
NM_000393.5(COL5A2):c.369+1G>TLikely pathogenic
Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, classic type, 2
β˜…β˜…β˜†β˜†2024
NM_000393.5(COL5A2):c.1159-1G>ALikely pathogenic
Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1
β˜…β˜…β˜†β˜†2023
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 702
NM_000393.5(COL5A2):c.3106_3117del (p.Pro1036_Ser1039del)Likely pathogenic
Ehlers-Danlos syndrome, classic type, 2
β˜…β˜†β˜†β˜†2026β†’ Residue 1036
NM_000393.5(COL5A2):c.1016G>A (p.Gly339Glu)Likely pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2026β†’ Residue 339
NM_000393.5(COL5A2):c.3654_3671del (p.1219PPG[1])Pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000393.5(COL5A2):c.1770+2T>CLikely pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2025
NM_000393.5(COL5A2):c.2401G>A (p.Gly801Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 801
NM_000393.5(COL5A2):c.4220del (p.Asn1407fs)Pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2025β†’ Residue 1407
NM_000393.5(COL5A2):c.550_553dup (p.Asp185fs)Pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2025β†’ Residue 185
NM_000393.5(COL5A2):c.1114G>T (p.Gly372Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 372
NM_000393.5(COL5A2):c.3040-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000393.5(COL5A2):c.1302+1G>ALikely pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2024
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)Likely pathogenic
Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 1149
NM_000393.5(COL5A2):c.3363+1G>TLikely pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2024
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)Pathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 1136
NM_000393.5(COL5A2):c.2769+2dupPathogenic
Ehlers-Danlos syndrome, classic type, 1
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Drug Targets2
COLLAGENASE CLOSTRIDIUM HISTOLYTICUMApproved
Collagen hydrolytic enzyme
ulcer disease
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
COL4A3Protein interaction100%SERPINH1Protein interaction100%COL1A1Protein interaction100%LUMProtein interaction98%PLOD2Protein interaction98%FN1Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Heart
94%
Lung
77%
Liver
26%
Brain
14%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
COL5A2COL4A3SERPINH1COL1A1LUMPLOD2FN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P05997
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.11Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.06 [0.04–0.11]
RankingsWhere COL5A2 stands among ~20K protein-coding genes
  • #5,782of 20,598
    Most Researched82
  • #619of 1,025
    FDA-Approved Drug Targets2
  • #1,128of 5,498
    Most Pathogenic Variants63 Β· top quartile
  • #77of 17,882
    Most Constrained (LOEUF)0.11 Β· top 1%
Genes detectedCOL5A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CHSY3 promotes proliferation and migration in gastric cancer and is associated with immune infiltration.
PMID: 37461041
J Transl Med Β· 2023
1.00
2
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
PMID: 20847697
Genet Med Β· 2010
0.90
3
Integrative Analysis From Multicenter Studies Identifies a WGCNA-Derived Cancer-Associated Fibroblast Signature for Ovarian Cancer.
PMID: 35874760
Front Immunol Β· 2022
0.80
4
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
PMID: 37079061
Hum Genet Β· 2023
0.70
5
Exosome-Based Regimen Rescues Endometrial Fibrosis in Intrauterine Adhesions Via Targeting Clinical Fibrosis Biomarkers.
PMID: 36893290
Stem Cells Transl Med Β· 2023
0.60