DISEASES

Disease-gene associations mined from literature

Literature associating MAD2L2 and xeroderma pigmentosum variant type

MAD2L2 [ENSP00000235310]

Mitotic spindle assembly checkpoint protein MAD2B; 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 . Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions . Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) . 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 . Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres . 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 . ECO:0000269|PubMed:11459826, ECO:0000269|PubMed:17296730, ECO:0000269|PubMed:17719540, ECO:0000269|PubMed:19443654,

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

Linkouts:  STRING  Pharos  UniProt  OMIM