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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADAMTS20
ADAM metallopeptidase with thrombospondin type 1 motif 20
Chromosome 12 · 12q12
NCBI Gene: 80070Ensembl: ENSG00000173157.19HGNC: HGNC:17178UniProt: P59510
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixproteolysisextracellular matrix organizationmetalloendopeptidase activityalcohol drinkingopen-angle glaucomaneurodegenerative diseaseglaucoma
✦AI Summary

ADAMTS20 is a secreted zinc metalloendopeptidase belonging to the ADAMTS superfamily that plays critical roles in extracellular matrix remodeling and developmental processes 1. Beyond its canonical proteolytic function, ADAMTS20 has non-canonical intracellular roles: it is internalized via endocytosis and localizes to Rab11 vesicles to regulate primary cilium biogenesis through proteolytic mechanisms 2. ADAMTS20 also cleaves membrane type 1-matrix metalloproteinase (MT1-MMP) at specific sites, regulating cell surface protease activity and focal adhesion dynamics 3. During development, ADAMTS20 is essential for melanoblast survival in dermal tissues, where it facilitates Kit ligand signaling and processes the proteoglycan versican 4. Loss-of-function mutations cause craniofacial birth defects including cleft lip and palate, identified through genome-wide association studies in both canine and human populations 5. In breast invasive ductal carcinoma, ADAMTS20 expression is significantly reduced compared to normal tissue, suggesting potential tumor-suppressive functions 6. These findings establish ADAMTS20 as a multifunctional protease with essential roles spanning embryonic development, ciliary biology, and potentially cancer biology.

Sources cited
1
ADAMTS proteins are secreted zinc metalloendopeptidases with substrates primarily in extracellular matrix; ADAMTS20 mutations cause Mendelian disorders
PMID: 29885460
2
ADAMTS9 and ADAMTS20 have non-canonical intracellular proteolytic roles in ciliogenesis; they are internalized and localize to Rab11 vesicles
PMID: 30814516
3
ADAMTS20 cleaves MT1-MMP in the hinge region between catalytic and hemopexin domains, regulating cell surface metalloprotease activity
PMID: 37169079
4
ADAMTS20 is required for melanoblast survival; it facilitates Kit ligand signaling and cleaves versican in vivo
PMID: 18454205
5
ADAMTS20 mutations cause cleft lip and palate in dogs and humans, identified by genome-wide association studies
PMID: 25798845
6
ADAMTS20 expression is significantly lower in breast invasive ductal carcinoma compared to normal fibroadenoma tissue
PMID: 29860265
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.38Weak
open-angle glaucomaOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.29Weak
glaucomaOpen Targets
0.28Weak
kidney diseaseOpen Targets
0.28Weak
premature birthOpen Targets
0.26Weak
insomniaOpen Targets
0.25Weak
femoral neck fractureOpen Targets
0.23Weak
respiratory system neoplasmOpen Targets
0.20Weak
Abnormality of refractionOpen Targets
0.18Weak
idiopathic pulmonary fibrosisOpen Targets
0.15Weak
narcolepsyOpen Targets
0.12Weak
liver diseaseOpen Targets
0.12Weak
Abruptio PlacentaeOpen Targets
0.11Weak
Griscelli diseaseOpen Targets
0.11Weak
Griscelli disease type 3Open Targets
0.11Weak
Griscelli syndrome type 3Open Targets
0.11Weak
Microcephaly - albinism - digital anomaliesOpen Targets
0.11Weak
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.11Weak
ringed hair diseaseOpen Targets
0.10Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAMTS6Shared pathway100%ADAMTS17Shared pathway100%ADAMTS10Shared pathway100%ADAMTS8Shared pathway67%ADAMTS2Shared pathway67%ADAMTS14Shared pathway67%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
ADAMTS20ADAMTS6ADAMTS17ADAMTS10ADAMTS8ADAMTS2ADAMTS14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P59510
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.74–0.95]
RankingsWhere ADAMTS20 stands among ~20K protein-coding genes
  • #14,911of 20,598
    Most Researched17
  • #8,854of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedADAMTS20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ADAMTS proteins in human disorders.
PMID: 29885460
Matrix Biol · 2018
1.00
2
Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
PMID: 37169079
Mol Cell Proteomics · 2023
0.90
3
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.
PMID: 30814516
Nat Commun · 2019
0.80
4
Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.
PMID: 25798845
PLoS Genet · 2015
0.70
5
Relationship Between ADAMTS8, ADAMTS18, and ADAMTS20 (A Disintegrin and Metalloproteinase with Thrombospondin Motifs) Expressions and Tumor Molecular Classification, Clinical Pathological Parameters, and Prognosis in Breast Invasive Ductal Carcinoma.
PMID: 29860265
Med Sci Monit · 2018
0.60