DISEASES

Disease-gene associations mined from literature

Literature associating MAD2L2 and Fanconi anemia complementation group V

MAD2L2 [ENSP00000235310]

Mitotic spindle assembly checkpoint protein MAD2B; Adapter protein able to interact with different proteins and involved in different biological processes. 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. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. 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. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation.

Synonyms:  MAD2L2,  MAD2L2p,  hMAD2L2,  A0A024R4I4,  B1AK43 ...

Linkouts:  STRING  Pharos  UniProt  OMIM