MAU2 (MAU2 sister chromatid cohesion factor)

2014-11-01  

Identity

HGNC
MAU2
LOCATION
19p13.11
LOCUSID
23383
ALIAS
KIAA0892,MAU2L,SCC4,mau-2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
324339562020MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.22
324339562020MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.22
296118062018MCM2-7-dependent cohesin loading during S phase promotes sister-chromatid cohesion.39
296118062018MCM2-7-dependent cohesin loading during S phase promotes sister-chromatid cohesion.39
219347122012Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.16
219347122012Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.16
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
166823472006Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.130
166823472006Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.130

Citation

Dessen P

MAU2 (MAU2 sister chromatid cohesion factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68822/js/lib/css/cancer-prone-explorer/