ADAM28

Chr 8

ADAM metallopeptidase domain 28

Also known as: ADAM 28, MDC-L, MDCL, eMDC II, eMDCII

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 is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
1.16
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?
1.16LOEUF
pLI 0.000
Z-score 0.68
OE 0.89 (0.691.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.92Z-score
OE missense 1.13 (1.041.22)
467 obs / 414.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.89 (0.691.16)
00.351.4
Missense OE?1.13 (1.041.22)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 39 / 43.8Missense obs/exp: 467 / 414.5Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADAM28 · 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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