ADAMTS16

Chr 5

ADAM metallopeptidase with thrombospondin type 1 motif 16

Also known as: ADAMTS16s

NCBI Gene: 170690 ENSG00000145536 UniProt: Q8TE57 OMIM: 607510

This gene encodes a metalloproteinase with thrombospondin motifs that may regulate blood pressure and inhibit chondrosarcoma cell proliferation and migration. The gene is highly constrained against loss-of-function variants (pLI=0.0004, LOEUF=0.431), but no established Mendelian diseases have been definitively associated with ADAMTS16 mutations. Further research is needed to determine the clinical significance of variants in this gene.

OMIM ResearchSummary from RefSeq

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 protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.43

LOEUF

Mechanism· predicted