MAD2L2 (mitotic arrest deficient 2 like 2)

2003-02-01  

Identity

HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
FANCV,MAD2B,POLZ2,REV7
FUSION GENES

Other Information

Locus ID:

NCBI: 10459
MIM: 604094
HGNC: 6764
Ensembl: ENSG00000116670

Variants:

dbSNP: 10459
ClinVar: 10459
TCGA: ENSG00000116670
COSMIC: MAD2L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116670ENST00000235310Q9UI95
ENSG00000116670ENST00000235310A0A024R4I4
ENSG00000116670ENST00000376667Q9UI95
ENSG00000116670ENST00000376667A0A024R4I4
ENSG00000116670ENST00000376669B1AK44
ENSG00000116670ENST00000376672B1AK44
ENSG00000116670ENST00000376692Q9UI95
ENSG00000116670ENST00000376692A0A024R4I4
ENSG00000116670ENST00000445656B1AK43
ENSG00000116670ENST00000456915B1AK45

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Progesterone-mediated oocyte maturationKEGGko04914
Cell cycleKEGGhsa04110
ShigellosisKEGGhsa05131
Progesterone-mediated oocyte maturationKEGGhsa04914
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
DNA polymerase zeta complexKEGGhsa_M00293
DNA polymerase zeta complexKEGGM00293
DNA RepairREACTOMER-HSA-73894
DNA Damage BypassREACTOMER-HSA-73893
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateREACTOMER-HSA-110313
Translesion synthesis by REV1REACTOMER-HSA-110312
Translesion synthesis by POLKREACTOMER-HSA-5655862
Translesion synthesis by POLIREACTOMER-HSA-5656121

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
257999922015REV7 counteracts DNA double-strand break resection and affects PARP inhibition.168
257999902015MAD2L2 controls DNA repair at telomeres and DNA breaks by inhibiting 5' end resection.96
201641942010Crystal structure of human REV7 in complex with a human REV3 fragment and structural implication of the interaction between DNA polymerase zeta and REV1.58
219261602012REV1 and polymerase ζ facilitate homologous recombination repair.52
275004922016Biallelic inactivation of REV7 is associated with Fanconi anemia.50
228592962012Structural basis of recruitment of DNA polymerase ζ by interaction between REV1 and REV7 proteins.43
125293682003Structure and enzymatic properties of a stable complex of the human REV1 and REV7 proteins.34
170440272007Expression of the mitotic checkpoint gene MAD2L2 has prognostic significance in colon cancer.24
241002952013Sequestration of CDH1 by MAD2L2 prevents premature APC/C activation prior to anaphase onset.23
172967302007Rev7/MAD2B links c-Jun N-terminal protein kinase pathway signaling to activation of the transcription factor Elk-1.21

Citation

Dessen P

MAD2L2 (mitotic arrest deficient 2 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/333/mad2l2