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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10
Chromosome 19 Β· 19p13.2
NCBI Gene: 81794Ensembl: ENSG00000142303.14HGNC: HGNC:13201UniProt: A0A0A0MQW6
30PubMed Papers
21Diseases
0Drugs
37Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular matrixextracellular matrix organizationproteolysisWeill-Marchesani syndromeAbnormality of the skeletal systemcarpal tunnel syndromeatrial fibrillation
✦AI Summary

ADAMTS10 is a secreted metalloprotease that plays critical roles in extracellular matrix (ECM) assembly and organization, particularly in microfibril formation 1. The protein undergoes proteolytic activation by subtilisin-like proprotein convertases and is widely expressed in mesenchymal tissues during development, with particularly strong expression in developing lung, bone, and craniofacial regions 1. ADAMTS10 functions in ECM protein secretion and assembly, working cooperatively with ADAMTS17 to regulate fibronectin deposition and fibrillin-1 organization 23. Mechanistically, ADAMTS10 appears to modulate ECM formation at later stages compared to ADAMTS17, possibly regulating spatio-temporal deposition of fibrillin isoforms 3. Loss-of-function mutations in ADAMTS10 cause Weill-Marchesani syndrome, characterized by short stature, joint contractures, and connective tissue abnormalities, indicating its essential role in skeletal development and growth plate function 45. The protein also demonstrates tumor suppressor activity in gastric cancer, where it inhibits cell aggressiveness through the JAK/STAT/c-MYC pathway and reprograms macrophages to create an anti-malignant microenvironment 6. ADAMTS10's broad expression pattern and multiple disease associations underscore its fundamental importance in connective tissue homeostasis and development 7.

Sources cited
1
ADAMTS10 is a secreted metalloprotease with widespread expression in mesenchymal tissues and undergoes proteolytic activation
PMID: 15355968
2
ADAMTS10 works with ADAMTS17 in ECM protein secretion and fibronectin deposition
PMID: 41034152
3
ADAMTS10 modulates ECM formation at later stages and regulates fibrillin isoform deposition
PMID: 39896540
4
ADAMTS10 mutations cause Weill-Marchesani syndrome and cooperate with fibrillin-1 in tissue development
PMID: 32290605
5
Loss-of-function ADAMTS10 mutations lead to connective tissue abnormalities
PMID: 25469541
6
ADAMTS10 acts as tumor suppressor in gastric cancer through JAK/STAT/c-MYC pathway
PMID: 35925524
7
ADAMTS10 participates in major biological pathways and human disorders
PMID: 29885460
Disease Associationsβ“˜21
Weill-Marchesani syndromeOpen Targets
0.77Strong
Abnormality of the skeletal systemOpen Targets
0.60Moderate
carpal tunnel syndromeOpen Targets
0.51Moderate
atrial fibrillationOpen Targets
0.49Moderate
mononeuropathyOpen Targets
0.34Weak
peripheral nervous system diseaseOpen Targets
0.34Weak
smoking behaviorOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
familial hypercholesterolemiaOpen Targets
0.04Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.04Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.04Suggestive
isolated congenital megalocorneaOpen Targets
0.04Suggestive
megalocorneaOpen Targets
0.04Suggestive
autosomal dominant limb-girdle muscular dystrophy type 1GOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
glaucomaOpen Targets
0.03Suggestive
myopathy, distal, 7, adult-onset, X-linkedOpen Targets
0.03Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.03Suggestive
corneal endothelial dystrophyOpen Targets
0.03Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.03Suggestive
Weill-Marchesani syndrome 1UniProt
Pathogenic Variants37
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter)Pathogenic
Weill-Marchesani syndrome 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 237
NM_030957.4(ADAMTS10):c.2050C>T (p.Arg684Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 684
NM_030957.4(ADAMTS10):c.1900+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_030957.4(ADAMTS10):c.2530+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_030957.4(ADAMTS10):c.894+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_030957.4(ADAMTS10):c.2513C>A (p.Ser838Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 838
NM_030957.4(ADAMTS10):c.2403+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_030957.4(ADAMTS10):c.2859G>A (p.Trp953Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 953
NM_030957.4(ADAMTS10):c.3154C>T (p.Gln1052Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1052
NM_030957.4(ADAMTS10):c.1337+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_030957.4(ADAMTS10):c.2107del (p.Ser703fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 703
NM_030957.4(ADAMTS10):c.280_305del (p.Ser94fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 94
NM_030957.4(ADAMTS10):c.2708_2717dup (p.Ser906fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 906
NM_030957.4(ADAMTS10):c.1919C>A (p.Ser640Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 640
NM_030957.4(ADAMTS10):c.1798-6_1812delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_030957.4(ADAMTS10):c.2046C>A (p.Cys682Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 682
NM_030957.4(ADAMTS10):c.174_213del (p.Pro60fs)Pathogenic
Weill-Marchesani syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 60
NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp)Likely pathogenic
Weill-Marchesani syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 393
NM_030957.4(ADAMTS10):c.2986C>T (p.Arg996Cys)Likely pathogenic
Weill-Marchesani syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 996
NM_030957.4(ADAMTS10):c.1893C>A (p.Tyr631Ter)Likely pathogenic
Weill-Marchesani syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 631
View on ClinVar β†—
Related Genes
ADAMTS6Shared pathway100%ADAMTS20Shared pathway100%FBN2Protein interaction100%FBN1Protein interaction79%LTBP1Protein interaction79%LTBP2Protein interaction79%
Tissue Expression6 tissues
Ovary
100%
Lung
62%
Liver
57%
Heart
38%
Bone Marrow
29%
Brain
9%
Gene Interaction Network
Click a node to explore
ADAMTS10ADAMTS6ADAMTS20FBN2FBN1LTBP1LTBP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q59FE5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.47Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.37 [0.29–0.47]
RankingsWhere ADAMTS10 stands among ~20K protein-coding genes
  • #11,843of 20,598
    Most Researched30
  • #1,631of 5,498
    Most Pathogenic Variants37
  • #2,670of 17,882
    Most Constrained (LOEUF)0.47 Β· top quartile
Genes detectedADAMTS10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.
PMID: 41034152
Life Sci Alliance Β· 2025
1.00
2
The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.
PMID: 32290605
Biomolecules Β· 2020
0.90
3
Comprehensive Analysis of ADAMTS Gene Family in Renal Clear Cell Carcinoma and ADAMTS10 Research Combining Magnetic Resonance Imaging.
PMID: 37861954
Mol Biotechnol Β· 2024
0.80
4
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.
PMID: 39896540
bioRxiv Β· 2025
0.70
5
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
PMID: 25469541
Eur J Hum Genet Β· 2015
0.60