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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COL10A1
collagen type X alpha 1 chain
Chromosome 6 Β· 6q22.1
NCBI Gene: 1300Ensembl: ENSG00000123500.10HGNC: HGNC:2185UniProt: A0A650AXN9
98PubMed Papers
21Diseases
0Drugs
79Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular matrix structural constituent conferring tensile strengthextracellular matrixextracellular matrix organizationMetaphyseal chondrodysplasia, Schmid typeSchmid metaphyseal chondrodysplasiamyopiaAbnormality of the skeletal system
✦AI Summary

COL10A1 encodes type X collagen, a structural protein primarily produced by hypertrophic chondrocytes and localized to mineralization zones in cartilage, conferring tensile strength to the extracellular matrix 1. In normal physiology, COL10A1 expression marks chondrocyte hypertrophy during endochondral ossification; dysregulation of this process contributes to skeletal dysplasias including Schmid type metaphyseal chondrodysplasia 2. COL10A1 serves as a biomarker for myofibroblast cancer-associated fibroblasts (CAFs) across solid tumors 3. In cancer pathophysiology, COL10A1 upregulation promotes tumor progression through multiple mechanisms: it facilitates epithelial-mesenchymal transition (EMT) in colorectal and breast cancers via secretion and signaling pathways including COL10A1/CD18/JAK1/STAT3 and lncRNA HAGLROS/miR-135b-3p axes 45. COL10A1 activates TGF-Ξ²1/Smad, MEK/ERK, and focal adhesion kinase signaling, driving cancer cell proliferation, invasion, and migration 1. In cartilage degeneration, COL10A1 upregulation indicates hypertrophic differentiation; miR-26b-5p-mediated COL10A1 suppression alleviates osteoarthritis by inhibiting chondrocyte hypertrophy 6. COL10A1 represents a potential therapeutic target in both cancer and degenerative joint disease, though clinical validation remains ongoing 1.

Sources cited
1
COL10A1 encodes type X collagen, a structural protein primarily produced by hypertrophic chondrocytes and localized to mineralization zones in cartilage, conferring tensile strength to the extracellular matrix .
PMID: 39392043
2
In normal physiology, COL10A1 expression marks chondrocyte hypertrophy during endochondral ossification; dysregulation of this process contributes to skeletal dysplasias including Schmid type metaphyseal chondrodysplasia .
PMID: 35250876
3
COL10A1 serves as a biomarker for myofibroblast cancer-associated fibroblasts (CAFs) across solid tumors .
PMID: 37728068
4
In cartilage degeneration, COL10A1 upregulation indicates hypertrophic differentiation; miR-26b-5p-mediated COL10A1 suppression alleviates osteoarthritis by inhibiting chondrocyte hypertrophy .
PMID: 38374072
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Metaphyseal chondrodysplasia, Schmid typeOpen Targets
0.83Strong
Schmid metaphyseal chondrodysplasiaOpen Targets
0.80Strong
myopiaOpen Targets
0.49Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
macular degenerationOpen Targets
0.41Moderate
refractive errorOpen Targets
0.40Moderate
Abnormality of refractionOpen Targets
0.34Weak
carpal tunnel syndromeOpen Targets
0.33Weak
dry age related macular degenerationOpen Targets
0.32Weak
Neuropathic spinal arthropathyOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.26Weak
age-related macular degenerationOpen Targets
0.22Weak
total hip arthroplastyOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
metaphyseal chondrodysplasiaOpen Targets
0.17Weak
osteoarthritis, kneeOpen Targets
0.16Weak
total joint arthroplastyOpen Targets
0.15Weak
Nager syndromeOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
Schmid type metaphyseal chondrodysplasiaUniProt
Pathogenic Variants79
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)Pathogenic
Metaphyseal chondrodysplasia, Schmid type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 671
NM_000493.4(COL10A1):c.211C>T (p.Arg71Ter)Pathogenic
See cases|not provided|Metaphyseal chondrodysplasia, Schmid type
β˜…β˜…β˜†β˜†2025β†’ Residue 71
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs)Likely pathogenic
Metaphyseal chondrodysplasia, Schmid type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 593
NM_000493.4(COL10A1):c.1823del (p.Thr608fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 608
NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter)Pathogenic
not provided|Metaphyseal chondrodysplasia, Schmid type
β˜…β˜…β˜†β˜†2024β†’ Residue 663
NM_000493.4(COL10A1):c.1789T>C (p.Tyr597His)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 597
NM_000493.4(COL10A1):c.1866_1868dup (p.Tyr623Ter)Likely pathogenic
Metaphyseal chondrodysplasia, Schmid type
β˜…β˜†β˜†β˜†2026β†’ Residue 623
NM_000493.4(COL10A1):c.1874dup (p.Tyr625Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 625
NM_000493.4(COL10A1):c.1837_1849del (p.Gly613fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 613
NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp)Pathogenic
Metaphyseal chondrodysplasia, Schmid type|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 598
NM_000493.4(COL10A1):c.1861_1873del (p.Val621fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 621
NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter)Pathogenic
Metaphyseal chondrodysplasia, Schmid type|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 611
NM_000493.4(COL10A1):c.1995del (p.Glu666fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 666
NM_000493.4(COL10A1):c.1869C>A (p.Tyr623Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 623
NM_000493.4(COL10A1):c.1636del (p.Gly545_Val546insTer)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 545
NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs)Pathogenic
not provided|Metaphyseal chondrodysplasia, Schmid type
β˜…β˜†β˜†β˜†2024β†’ Residue 623
NM_000493.4(COL10A1):c.1788dup (p.Tyr597fs)Likely pathogenic
Metaphyseal chondrodysplasia, Schmid type
β˜…β˜†β˜†β˜†2024β†’ Residue 597
NM_000493.4(COL10A1):c.1835_1838del (p.Val612fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 612
NM_000493.4(COL10A1):c.1873del (p.Tyr625fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 625
NM_000493.4(COL10A1):c.1845dup (p.Lys616Ter)Likely pathogenic
Metaphyseal chondrodysplasia, Schmid type
β˜…β˜†β˜†β˜†2024β†’ Residue 616
View on ClinVar β†—
Related Genes
COL9A2Shared pathway100%COL27A1Shared pathway100%MATN3Shared pathway100%COL1A2Protein interaction100%P3H1Protein interaction95%ADAMTS3Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
80%
Brain
70%
Heart
60%
Lung
40%
Liver
16%
Gene Interaction Network
Click a node to explore
COL10A1COL9A2COL27A1MATN3COL1A2P3H1ADAMTS3
PROTEIN STRUCTURE
Preparing viewer…
PDB1GR3 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.53 [0.34–0.85]
RankingsWhere COL10A1 stands among ~20K protein-coding genes
  • #4,872of 20,598
    Most Researched98 Β· top quartile
  • #937of 5,498
    Most Pathogenic Variants79 Β· top quartile
  • #7,451of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedCOL10A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
COL10A1
PMID: 40826474
J Exp Clin Cancer Res Β· 2025
1.00
2
A human organoid drug screen identifies Ξ±2-adrenergic receptor signaling as a therapeutic target for cartilage regeneration.
PMID: 39353427
Cell Stem Cell Β· 2024
0.90
3
M2 macrophage-derived exosomal miR-26b-5p regulates macrophage polarization and chondrocyte hypertrophy by targeting TLR3 and COL10A1 to alleviate osteoarthritis.
PMID: 38374072
J Nanobiotechnology Β· 2024
0.80
4
LncRNA HAGLROS promotes breast cancer evolution through miR-135b-3p/COL10A1 axis and exosome-mediated macrophage M2 polarization.
PMID: 39198393
Cell Death Dis Β· 2024
0.70
5
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
PMID: 35250876
Front Endocrinol (Lausanne) Β· 2022
0.60