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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADAMTS14
ADAM metallopeptidase with thrombospondin type 1 motif 14
Chromosome 10 · 10q22.1
NCBI Gene: 140766Ensembl: ENSG00000138316.12HGNC: HGNC:14899UniProt: Q8WXS8
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
metalloendopeptidase activityextracellular matrixproteolysisextracellular matrix organizationAbnormality of the skeletal systemneurodegenerative diseasecarpal tunnel syndromecrush injury
✦AI Summary

ADAMTS14 encodes a secretory zinc metalloproteinase that plays critical roles in extracellular matrix (ECM) organization and collagen processing 1. The enzyme functions as a procollagen N-proteinase, cleaving aminoprocollagen type I to facilitate collagen fibril formation, and requires activation from a latent form to display full peptidase activity 1. ADAMTS14 also cleaves lysyl oxidase (LOX) downstream of its propeptide site, producing a shorter LOX form that affects collagen cross-linking 1. Beyond its primary collagen-processing function, ADAMTS14 regulates myofibroblast differentiation by modulating transforming growth factor β availability through cleavage of fibulin 2, demonstrating broader regulatory roles in tissue remodeling 2. Disease relevance includes significant associations with osteoarthritis susceptibility, where genetic polymorphisms (particularly rs4747096) increase disease risk in multiple populations 34. The gene also shows associations with gastric cancer susceptibility and prognosis, where specific SNPs affect miRNA binding and ADAMTS14 expression levels 5. Additionally, ADAMTS14 polymorphisms influence bone mineral density in fluoride-exposed populations and interact with environmental factors in oral cancer development 67. Clinical significance extends to potential therapeutic targeting for osteoarthritis treatment and as a diagnostic marker for various diseases 4.

Sources cited
1
ADAMTS14 is a secretory zinc metalloproteinase involved in ECM organization and collagen processing, promoting collagen fiber formation
PMID: 35883515
2
ADAMTS14 regulates myofibroblast differentiation through TGF-β availability by cleaving fibulin 2
PMID: 37929635
3
ADAMTS14 rs4747096 polymorphism increases knee osteoarthritis risk
PMID: 39472918
4
ADAMTS14 genetic polymorphisms are associated with knee osteoarthritis susceptibility in Chinese population
PMID: 30266746
5
ADAMTS14 SNPs affect gastric cancer susceptibility and prognosis through miRNA binding disruption
PMID: 39992602
6
ADAMTS14 rs4747096 polymorphism influences bone mineral density
PMID: 37725302
7
ADAMTS14 polymorphisms interact with environmental factors in oral cancer development
PMID: 27463966
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
carpal tunnel syndromeOpen Targets
0.40Moderate
crush injuryOpen Targets
0.30Weak
ankylosing spondylitisOpen Targets
0.27Weak
lymphoid neoplasmOpen Targets
0.26Weak
corneal neovascularizationOpen Targets
0.23Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Fraser syndromeOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.10Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.08Suggestive
pulverulent cataractOpen Targets
0.08Suggestive
isolated ectopia lentisOpen Targets
0.08Suggestive
Posterior polar cataractOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SGPL1Protein interaction84%ADAMTS2Shared pathway68%ADAMTS6Shared pathway67%ADAMTS20Shared pathway67%ADAMTS10Shared pathway67%ADAMTS17Shared pathway67%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
31%
Heart
26%
Lung
25%
Liver
8%
Ovary
2%
Gene Interaction Network
Click a node to explore
ADAMTS14SGPL1ADAMTS2ADAMTS6ADAMTS20ADAMTS10ADAMTS17
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WXS8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.69–0.97]
RankingsWhere ADAMTS14 stands among ~20K protein-coding genes
  • #11,106of 20,598
    Most Researched34
  • #9,156of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedADAMTS14
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The association between ADAMTS14/rs4747096 gene polymorphism and some risk factors and knee osteoarthritis.
PMID: 39472918
BMC Musculoskelet Disord · 2024
1.00
2
ADAMTS14 Gene Polymorphism and Environmental Risk in the Development of Oral Cancer.
PMID: 27463966
PLoS One · 2016
0.90
3
Association between ADAMTS14_rs4747096 gene polymorphism and bone mineral density of Chinese Han population residing in fluorine exposed areas in ShanXi Province, China.
PMID: 37725302
Environ Sci Pollut Res Int · 2023
0.80
4
Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene.
PMID: 36658113
Nat Commun · 2023
0.70
5
Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population.
PMID: 30266746
Biosci Rep · 2018
0.60