ADAMTS20

Chr 12

ADAM metallopeptidase with thrombospondin type 1 motif 20

Also known as: ADAM-TS20, ADAMTS-20, GON-1

NCBI Gene: 80070ENSG00000173157UniProt: P59510

The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 3.04
OE 0.69 (0.57–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.69Z-score
OE missense 1.06 (1.01–1.12)
1038 obs / 977.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.69 (0.57–0.83)
0≤0.351.4
Missense OE?1.06 (1.01–1.12)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 77 / 111.7Missense obs/exp: 1038 / 977.7Syn Z: 0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADAMTS20 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients