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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADAMTS6
ADAM metallopeptidase with thrombospondin type 1 motif 6
Chromosome 5 · 5q12.3
NCBI Gene: 11174Ensembl: ENSG00000049192.15HGNC: HGNC:222UniProt: Q5IR90
34PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
metalloendopeptidase activityproteolysisextracellular matrix organizationextracellular matrixAbnormality of the skeletal systemosteoarthritiscervical carcinomaadolescent idiopathic scoliosis
✦AI Summary

ADAMTS6 is a secreted zinc metalloendopeptidase that belongs to the ADAMTS family of extracellular matrix-associated proteases 1. The protein is processed by furin cleavage to become catalytically active and functions in extracellular matrix organization 2. ADAMTS6 plays a complex role in cellular adhesion and communication by negatively regulating focal adhesions and heparan sulfate-rich interfaces, contrasting with its homolog ADAMTS10 2. In cardiovascular physiology, ADAMTS6 missense variants are associated with cardiac conduction abnormalities, with functional studies demonstrating its role in connexin 43 gap junction expression essential for myocardial conduction 34. The protein exhibits tissue-specific and context-dependent effects in cancer. In breast cancer, ADAMTS6 functions as a tumor suppressor by inhibiting cell migration, invasion, and tumorigenesis through modulation of the ERK signaling pathway, with high expression correlating with improved disease-free survival 5. Conversely, in gastric carcinoma, ADAMTS6 promotes tumor growth and angiogenesis, with high expression associated with poor prognosis 6. Additionally, genetic variants in ADAMTS6 have been associated with lumbar disc herniation susceptibility 7, and its promoter methylation patterns may serve as diagnostic markers in non-small-cell lung cancer 8.

Sources cited
1
ADAMTS6 is a secreted zinc metalloendopeptidase belonging to the ADAMTS family of extracellular matrix-associated proteases
PMID: 26025392
2
ADAMTS6 is processed by furin cleavage to become active and negatively regulates focal adhesions and heparan sulfate-rich interfaces
PMID: 27779234
3
ADAMTS6 missense variants are associated with cardiac conduction
PMID: 33352066
4
ADAMTS6 variants affect cardiac conduction through connexin 43 gap junction expression
PMID: 30012220
5
ADAMTS6 acts as tumor suppressor in breast cancer via ERK pathway modulation
PMID: 27542224
6
ADAMTS6 promotes tumor growth and angiogenesis in gastric carcinoma
PMID: 41144105
7
ADAMTS6 genetic variants associated with lumbar disc herniation susceptibility
PMID: 36810712
8
ADAMTS6 promoter methylation patterns may serve as diagnostic markers in lung cancer
PMID: 39940703
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
osteoarthritisOpen Targets
0.37Weak
cervical carcinomaOpen Targets
0.33Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
lymphatic system diseaseOpen Targets
0.28Weak
response to selective serotonin reuptake inhibitorOpen Targets
0.27Weak
placental retentionOpen Targets
0.27Weak
Graves diseaseOpen Targets
0.27Weak
primary ovarian insufficiencyOpen Targets
0.27Weak
vein disorderOpen Targets
0.26Weak
alopecia areataOpen Targets
0.25Weak
Inguinal herniaOpen Targets
0.24Weak
breast diseaseOpen Targets
0.24Weak
open-angle glaucomaOpen Targets
0.23Weak
humerus fractureOpen Targets
0.22Weak
enteritisOpen Targets
0.22Weak
HerniaOpen Targets
0.20Weak
Hernia of the abdominal wallOpen Targets
0.20Weak
diverticular diseaseOpen Targets
0.16Weak
Incisional herniaOpen Targets
0.15Weak
Pathogenic Variants1
NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln)Likely pathogenic
Premature ovarian failure
★☆☆☆2020→ Residue 947
View on ClinVar ↗
Related Genes
ADAMTS17Shared pathway100%ADAMTS10Shared pathway100%ADAMTS20Shared pathway100%FURINProtein interaction71%ADAMTS8Shared pathway67%ADAMTS2Shared pathway67%
Tissue Expression6 tissues
Lung
100%
Heart
92%
Ovary
67%
Bone Marrow
30%
Liver
30%
Brain
15%
Gene Interaction Network
Click a node to explore
ADAMTS6ADAMTS17ADAMTS10ADAMTS20FURINADAMTS8ADAMTS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5IR90
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.11–0.23]
RankingsWhere ADAMTS6 stands among ~20K protein-coding genes
  • #11,107of 20,598
    Most Researched34
  • #5,222of 5,498
    Most Pathogenic Variants1
  • #628of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedADAMTS6
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
ADAMTS proteases in cardiovascular physiology and disease.
PMID: 33352066
Open Biol · 2020
1.00
2
ADAMTS6 suppresses tumor progression via the ERK signaling pathway and serves as a prognostic marker in human breast cancer.
PMID: 27542224
Oncotarget · 2016
0.90
3
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family.
PMID: 26025392
Genome Biol · 2015
0.80
4
The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.
PMID: 36810712
Eur Spine J · 2023
0.70
5
Assessment of Methylation in Selected
PMID: 39940703
Int J Mol Sci · 2025
0.60