MAU2 (MAU2 sister chromatid cohesion factor)

2014-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
KIAA0892,MAU2L,SCC4,mau-2
FUSION GENES

Other Information

Locus ID:

NCBI: 23383
MIM: 614560
HGNC: 29140
Ensembl: ENSG00000129933

Variants:

dbSNP: 23383
ClinVar: 23383
TCGA: ENSG00000129933
COSMIC: MAU2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129933ENST00000262815Q9Y6X3
ENSG00000129933ENST00000609060V9GZ52
ENSG00000129933ENST00000609122V9GYS3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic Telophase/CytokinesisREACTOMER-HSA-68884
Cohesin Loading onto ChromatinREACTOMER-HSA-2470946

References

Pubmed IDYearTitleCitations
166823472006Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.101
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
296118062018MCM2-7-dependent cohesin loading during S phase promotes sister-chromatid cohesion.16
219347122012Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.14

Citation

Dessen P

MAU2 (MAU2 sister chromatid cohesion factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68822/mau2