ADAMTS15

Chr 11AR

ADAM metallopeptidase with thrombospondin type 1 motif 15

Also known as: DA12

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Arthrogryposis, distal, type 12MIM #620545
AR
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.72
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.000
Z-score 2.80
OE 0.47 (0.310.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.51Z-score
OE missense 0.94 (0.881.01)
553 obs / 587.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.310.72)
00.351.4
Missense OE?0.94 (0.881.01)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 15 / 32.1Missense obs/exp: 553 / 587.7Syn Z: -0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADAMTS15 · 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

No active trials found for this gene.

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