ADAM8

Chr 10

ADAM metallopeptidase domain 8

Also known as: CD156, CD156a, MS2

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]

ResearchGenerating clinical summary…
0
Active trials
47
Pubs (1 yr)
P/LP submissions
P/LP missense
0.93
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.94
OE 0.68 (0.500.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.38Z-score
OE missense 0.95 (0.881.03)
467 obs / 490.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.500.93)
00.351.4
Missense OE?0.95 (0.881.03)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 28 / 41.5Missense obs/exp: 467 / 490.7Syn Z: -1.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADAM8 · 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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