MAD2L2

Chr 1AR

mitotic arrest deficient 2 like 2

Also known as: FANCV, MAD2B, POLZ2, REV7

NCBI Gene: 10459ENSG00000116670UniProt: Q9UI95OMIM: 604094

The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…
ARLOEUF 0.721 OMIM phenotype
Clinical Summary— MAD2L2
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
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GeneReview available — MAD2L2
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.082
Z-score 2.27
OE 0.31 (0.15–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.57Z-score
OE missense 0.62 (0.51–0.74)
81 obs / 131.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.15–0.72)
0≤0.351.4
Missense OE?0.62 (0.51–0.74)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 4 / 12.8Missense obs/exp: 81 / 131.6Syn Z: 1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAD2L2 · 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

ClinicalTrials.gov

No active trials found for this gene.

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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