ADAM12

Chr 10

ADAM metallopeptidase domain 12

Also known as: ADAM12-OT1, CAR10, MCMP, MCMPMltna, MLTN, MLTNA

NCBI Gene: 8038ENSG00000148848UniProt: O43184

This gene encodes a member of a family of proteins that are 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. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]

ResearchGenerating clinical summary…
1
Active trials
70
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
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

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.000
Z-score 3.78
OE 0.41 (0.28–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.27Z-score
OE missense 0.84 (0.78–0.91)
438 obs / 519.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.28–0.59)
0≤0.351.4
Missense OE?0.84 (0.78–0.91)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 19 / 46.9Missense obs/exp: 438 / 519.3Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADAM12 · protein map & ClinVar variants

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

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