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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COL8A1
collagen type VIII alpha 1 chain
Chromosome 3 · 3q12.1
NCBI Gene: 1295Ensembl: ENSG00000144810.17HGNC: HGNC:2215UniProt: P27658
77PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular matrixendodermal cell differentiationextracellular matrix structural constituent conferring tensile strengthInguinal herniaglaucomaopen-angle glaucomaage-related macular degeneration
✦AI Summary

COL8A1 encodes collagen type VIII alpha 1 chain, a non-fibrillar, short-chain network-forming collagen expressed throughout the vasculature and tumor microenvironment 1. Primary function involves extracellular matrix organization and structural support, with the C-terminal NC1 domain (vastatin) inhibiting endothelial cell proliferation and inducing apoptosis. COL8A1 functions as both a structural component and signaling molecule in matricellular communication 1. Mechanistically, secreted COL8A1 activates ITGB1 and DDR1 receptors on target cells, triggering PI3K/AKT and NF-κB signaling pathways 2. In cancer contexts, COL8A1 is specifically produced by myofibroblast cancer-associated fibroblasts (myCAFs) 3 and promotes tumor progression through epithelial-mesenchymal transition (EMT) and angiogenesis 4. COL8A1 expression is upregulated in multiple cancer types including colorectal 5, pancreatic 2, gastric 6, thyroid 7, and nasopharyngeal cancers 4, consistently correlating with poor prognosis and chemoresistance. Clinically, COL8A1 serves as a biomarker for cancer progression and fibrotic disease 8, with therapeutic potential through receptor antagonism or pathway inhibition to overcome drug resistance and metastasis.

Sources cited
1
COL8A1 is a non-fibrillar, short-chain, network-forming collagen with roles in angiogenesis, fibrosis, and ECM remodeling in vascular and cancer contexts
PMID: 39154854
2
COL8A1 activates ITGB1 and DDR1 receptors leading to PI3K/AKT and NF-κB signaling; elevated in PDAC correlating with gemcitabine resistance
PMID: 36375776
3
COL8A1 is specifically expressed by myofibroblast CAFs (myCAF) and serves as a collagen biomarker in pancreatic and solid tumors
PMID: 37728068
4
Matrix stiffness promotes COL8A1 expression in nasopharyngeal carcinoma, triggering EMT and angiogenesis to promote metastasis
PMID: 40049264
5
COL8A1 from THBS2+ CAFs interacts with ITGB1 on colorectal cancer cells, activating PI3K-AKT and promoting EMT-driven oxaliplatin resistance
PMID: 39732719
6
COL8A1 is upregulated in gastric cancer, correlates with shorter overall survival, and promotes cancer cell proliferation, migration, and invasion
PMID: 32774507
7
COL8A1-ITGB1 interaction identified as a cell-cell communication pathway during papillary thyroid cancer progression
PMID: 40157360
8
COL8A1 is a fibrosis-associated biomarker dysregulated in both heart failure and multiple cancer types
PMID: 39563337
Disease Associationsⓘ20
Inguinal herniaOpen Targets
0.46Moderate
glaucomaOpen Targets
0.45Moderate
open-angle glaucomaOpen Targets
0.45Moderate
age-related macular degenerationOpen Targets
0.43Moderate
Hernia of the abdominal wallOpen Targets
0.42Moderate
HerniaOpen Targets
0.38Weak
wet macular degenerationOpen Targets
0.34Weak
edemaOpen Targets
0.33Weak
brain compressionOpen Targets
0.33Weak
ovarian neoplasmOpen Targets
0.32Weak
ventral herniaOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.31Weak
diaphragmatic herniaOpen Targets
0.30Weak
COVID-19Open Targets
0.28Weak
menopausal or post-menopausal diseaseOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.25Weak
splenic diseaseOpen Targets
0.23Weak
atrophic macular degenerationOpen Targets
0.21Weak
dry age related macular degenerationOpen Targets
0.18Weak
dyshidrosisOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COL1A2Protein interaction100%GP6Protein interaction94%COL4A3Protein interaction79%COL4A4Protein interaction78%COL10A1Protein interaction78%COL8A2Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Lung
94%
Ovary
22%
Brain
5%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COL8A1COL1A2GP6COL4A3COL4A4COL10A1COL8A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P27658
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.48 [0.34–0.68]
RankingsWhere COL8A1 stands among ~20K protein-coding genes
  • #6,143of 20,598
    Most Researched77
  • #5,120of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedCOL8A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
THBS2 + cancer-associated fibroblasts promote EMT leading to oxaliplatin resistance via COL8A1-mediated PI3K/AKT activation in colorectal cancer.
PMID: 39732719
Mol Cancer · 2024
1.00
2
A spatially resolved transcriptome landscape during thyroid cancer progression.
PMID: 40157360
Cell Rep Med · 2025
0.90
3
Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.
PMID: 36375776
Matrix Biol · 2022
0.80
4
Collagen VIII in vascular diseases.
PMID: 39154854
Matrix Biol · 2024
0.70
5
Identification of fibrosis-associated biomarkers in heart failure and human cancers.
PMID: 39563337
J Transl Med · 2024
0.60