MAD2L2
entrez
10459
canonical
uniprot
Q9UI95
canonical
ensembl
ENSG00000116670
resolver
ensp
ENSP00000235310
resolver
ensp
ENSP00000365855
resolver
ensp
ENSP00000365882
resolver
ensp
ENSP00000400982
resolver
ensp
ENSP00000520633
resolver
ensp
ENSP00000526252
resolver
ensp
ENSP00000581749
resolver
ensp
ENSP00000581750
resolver
ensp
ENSP00000581752
resolver
ensp
ENSP00000581753
resolver
ensp
ENSP00000581754
resolver
ensp
ENSP00000581760
resolver
ensp
ENSP00000581761
resolver
ensp
ENSP00000581764
resolver
ensp
ENSP00000581766
resolver
ensp
ENSP00000581768
resolver
ensp
ENSP00000581775
resolver
ensp
ENSP00000581776
resolver
ensp
ENSP00000624070
resolver
ensp
ENSP00000624071
resolver
enst
ENST00000235310
resolver
enst
ENST00000376667
resolver
enst
ENST00000376692
resolver
enst
ENST00000456915
resolver
enst
ENST00000717649
resolver
enst
ENST00000856193
resolver
enst
ENST00000911690
resolver
enst
ENST00000911691
resolver
enst
ENST00000911693
resolver
enst
ENST00000911694
resolver
enst
ENST00000911695
resolver
enst
ENST00000911701
resolver
enst
ENST00000911702
resolver
enst
ENST00000911705
resolver
enst
ENST00000911707
resolver
enst
ENST00000911709
resolver
enst
ENST00000911716
resolver
enst
ENST00000911717
resolver
enst
ENST00000954011
resolver
enst
ENST00000954012
resolver
genesymbol
MAD2L2
resolver
genesymbol_syn
MAD2B
resolver
genesymbol_syn
REV7
resolver
hgnc
HGNC:6764
resolver
uniprot
B3KNE3
resolver
uniprot
Q5TGW7
resolver
uniprot
Q9UNA7
resolver
uniprot
Q9Y6I6
resolver
uniprot_entry
MD2L2_HUMAN
resolver
uniprot_sec
B3KNE3
resolver
uniprot_sec
Q5TGW7
resolver
uniprot_sec
Q9UNA7
resolver
uniprot_sec
Q9Y6I6
resolver
amino_acid_sequence
MTTLTRQDLNFGQVVADVLCEFLEVAVHLILYVREVYPVGIFQKRKKYNVPVQMSCHPELNQYIQDTLHCVKPLLEKNDVEKVVVVILDKEHRPVEKFVFEITQPPLLSISSDSLLSHVEQLLRAFILKISVCDAVLDHNPPGCTFTVLVHTREAATRNMEKIQVIKDFPWILADEQDVHMHDPRLIPLKTMTSDILKMQLYVEERAHKGS
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia, complementation group V (FANCV) [MIM:617243]: 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. {ECO:0000269|PubMed:27500492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17296730, PubMed:17719540, 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, PubMed:23143872). 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). {ECO:0000269|PubMed:11459825, ECO:0000269|PubMed:11459826, ECO:0000269|PubMed:17296730, ECO:0000269|PubMed:17719540, ECO:0000269|PubMed:19443654, ECO:0000269|PubMed:20164194, ECO:0000269|PubMed:23143872, ECO:0000269|PubMed:29656893}.
uniprot
proteins
mass_dalton
24334
uniprot
proteins
mutagenesis
MUTAGEN 63; /note="Y->A: Alters interaction with REV3L. Loss of interaction with REV3L; when associated with A-171."; /evidence="ECO:0000269|PubMed:20164194"; MUTAGEN 124; /note="R->A: Induces structural changes that increase affinity for REV3L and REV1. No effect on interaction with REV1; when associated with A-171."; /evidence="ECO:0000269|PubMed:20164194"; MUTAGEN 171; /note="W->A: Alters interaction with REV3L and REV1. Loss of interaction with REV3L; when associated with A-63. No effect on interaction with REV1; when associated with A-124."; /evidence="ECO:0000269|PubMed:20164194"; MUTAGEN 186; /note="L->A: Significantly prevents interaction with REV1; no effect on interaction with REV3L."; /evidence="ECO:0000269|PubMed:20164194"; MUTAGEN 200; /note="Q->A: Significantly prevents interaction with REV1; no effect on interaction with REV3L."; /evidence="ECO:0000269|PubMed:20164194"; MUTAGEN 202; /note="Y->A: Significantly prevents interaction with REV1; no effect on interaction with REV3L."; /evidence="ECO:0000269|PubMed:20164194
uniprot
proteins
pubmed
10366450
uniprot
proteins
pubmed
10527948
uniprot
proteins
pubmed
10660610
uniprot
proteins
pubmed
11459825
uniprot
proteins
pubmed
11459826
uniprot
proteins
pubmed
11485998
uniprot
proteins
pubmed
11717438
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17296730
uniprot
proteins
pubmed
17541814
uniprot
proteins
pubmed
17719540
uniprot
proteins
pubmed
19443654
uniprot
proteins
pubmed
19753112
uniprot
proteins
pubmed
20164194
uniprot
proteins
pubmed
20850016
uniprot
proteins
pubmed
21063390
uniprot
proteins
pubmed
23143872
uniprot
proteins
pubmed
24449906
uniprot
proteins
pubmed
27500492
uniprot
proteins
pubmed
29656893
uniprot
proteins
pubmed
29789392
uniprot
proteins
pubmed
34354233
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11717438, ECO:0000269|PubMed:17541814, ECO:0000269|PubMed:17719540, ECO:0000269|PubMed:19753112}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19753112, ECO:0000269|PubMed:21063390}. Cytoplasm {ECO:0000269|PubMed:11717438, ECO:0000269|PubMed:17719540}. Chromosome {ECO:0000269|PubMed:29656893}. Note=Recruited to sites of chromosomal double-stranded breaks during G1 and S phase of the cell cycle. {ECO:0000269|PubMed:29656893}.
uniprot
proteins