MAD2L2

Chr 1AR

mitotic arrest deficient 2 like 2

Also known as: FANCV, MAD2B, POLZ2, REV7

NCBI Gene: 10459 ENSG00000116670 UniProt: Q9UI95 OMIM: 604094

This protein is a component of the shieldin complex involved in DNA double-strand break repair and also mediates translesion DNA synthesis by facilitating interaction between DNA polymerases REV3L and REV1. Mutations cause Fanconi anemia complementation group V, a disorder characterized by bone marrow failure, cancer predisposition, and congenital anomalies. The condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Fanconi anemia, complementation group VMIM #617243

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

0.72

LOEUF

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Mechanism

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GeneReview available — MAD2L2