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MAD2L2

OverviewProducts

Function

Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654).

Involvement in disease

Fanconi anemia, complementation group V

FANCV

A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue specificity

Ubiquitously expressed.

Cellular localization

  • Nucleus
  • Cytoplasm
  • Cytoskeleton
  • Spindle
  • Cytoplasm
  • Chromosome
  • Recruited to sites of chromosomal double-stranded breaks during G1 and S phase of the cell cycle.

Alternative names

  • Mitotic spindle assembly checkpoint protein MAD2B
  • Mitotic arrest deficient 2-like protein 2
  • REV7 homolog
  • MAD2-like protein 2
  • hREV7
  • MAD2L2
  • MAD2B
  • REV7

Database links

Target type

Proteins

Molecular weight

24334Da