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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COL16A1
collagen type XVI alpha 1 chain
Chromosome 1 · 1p35.2
NCBI Gene: 1307Ensembl: ENSG00000084636.19HGNC: HGNC:2193UniProt: Q07092
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
integrin bindingprotein bindingextracellular matrix structural constituent conferring tensile strengthcell adhesionglaucomaopen-angle glaucomaneurodegenerative diseaseintelligence
✦AI Summary

COL16A1 encodes collagen type XVI alpha 1 chain, a fibril-associated collagen with interrupted triple helices (FACIT) that plays crucial roles in extracellular matrix organization and cell adhesion. The protein mediates cell attachment and induces integrin-mediated cellular reactions, including cell spreading and morphological alterations [UniProt]. COL16A1 is significantly upregulated in various pathological conditions, particularly fibrotic diseases. In keloids, COL16A1 is regulated by super-enhancers and associated with the core transcription factor FOXP1, contributing to anti-senescence mechanisms in fibrosis 1. The gene shows differential expression in tissue remodeling contexts, being enriched in high-flow regions of the trabecular meshwork compared to low-flow regions 2. COL16A1 expression is induced by inflammatory cytokines, as demonstrated by IL-17A promoting its expression in valvular endothelial cells, contributing to calcific aortic valve disease progression 3. Additionally, COL16A1 serves as a prognostic biomarker in cancer, being part of cancer-associated fibroblast signatures in ovarian cancer 4 and stemness-related prognostic signatures 5. The gene is also upregulated in severe intrauterine adhesions, where it is regulated by miR-543 6, suggesting its involvement in pathological tissue remodeling and fibrosis across multiple organ systems.

Sources cited
1
COL16A1 is regulated by super-enhancers and FOXP1 transcription factor in keloids, contributing to anti-senescence mechanisms in fibrosis
PMID: 40702440
2
COL16A1 is enriched in high-flow regions compared to low-flow regions of the trabecular meshwork
PMID: 25826404
3
IL-17A promotes COL16A1 expression in valvular endothelial cells, contributing to calcific aortic valve disease
PMID: 37354607
4
COL16A1 is part of cancer-associated fibroblast signatures for ovarian cancer prognosis
PMID: 35874760
5
COL16A1 is included in stemness-related prognostic signatures for ovarian cancer
PMID: 35741755
6
COL16A1 is upregulated in severe intrauterine adhesions and is a target gene of miR-543
PMID: 27052751
Disease Associationsⓘ20
glaucomaOpen Targets
0.51Moderate
open-angle glaucomaOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
intelligenceOpen Targets
0.42Moderate
asthmaOpen Targets
0.39Weak
adult onset asthmaOpen Targets
0.31Weak
obesityOpen Targets
0.30Weak
insomniaOpen Targets
0.27Weak
smoking initiationOpen Targets
0.23Weak
smoking behaviorOpen Targets
0.22Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
substance abuseOpen Targets
0.20Weak
gastroesophageal reflux diseaseOpen Targets
0.05Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.04Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
WheezingOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LUMProtein interaction98%COL8A2Protein interaction87%COL9A1Protein interaction87%MMP9Protein interaction84%COL4A3Protein interaction83%COL5A3Protein interaction80%
Tissue Expression6 tissues
Ovary
100%
Heart
14%
Lung
10%
Liver
2%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COL16A1LUMCOL8A2COL9A1MMP9COL4A3COL5A3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q07092
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.62–0.79]
RankingsWhere COL16A1 stands among ~20K protein-coding genes
  • #9,984of 20,598
    Most Researched41
  • #6,570of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCOL16A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative Analysis From Multicenter Studies Identifies a WGCNA-Derived Cancer-Associated Fibroblast Signature for Ovarian Cancer.
PMID: 35874760
Front Immunol · 2022
1.00
2
Comprehensive analysis of keloid super-enhancer networks reveals FOXP1-mediated anti-senescence mechanisms in fibrosis.
PMID: 40702440
Cell Mol Biol Lett · 2025
0.90
3
Melanoma genome evolution across species.
PMID: 28173755
BMC Genomics · 2017
0.80
4
Mapping molecular differences and extracellular matrix gene expression in segmental outflow pathways of the human ocular trabecular meshwork.
PMID: 25826404
PLoS One · 2015
0.70
5
IL-17A induces valvular endothelial inflammation and aggravates calcific aortic valve disease.
PMID: 37354607
Biochem Biophys Res Commun · 2023
0.60