ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)

2008-07-01  

Identity

HGNC
LOCATION
8p21.1
LOCUSID
ALIAS
2410004I17Rik,EFO2,EFO2p,JHS,RBS,hEFO2
FUSION GENES

Other Information

Locus ID:

NCBI: 157570
MIM: 609353
HGNC: 27230
Ensembl: ENSG00000171320

Variants:

dbSNP: 157570
ClinVar: 157570
TCGA: ENSG00000171320
COSMIC: ESCO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171320ENST00000305188Q56NI9
ENSG00000171320ENST00000397418Q56NI9
ENSG00000171320ENST00000518262H0YB88
ENSG00000171320ENST00000519637E5RFP7
ENSG00000171320ENST00000522378E5RFE4
ENSG00000171320ENST00000523566E5RIE3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Establishment of Sister Chromatid CohesionREACTOMER-HSA-2468052

References

Pubmed IDYearTitleCitations
158217332005Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.125
159584952005Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion.86
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
184112542008The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.43
163809222005Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.41
197389072009The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.29
190748852008Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.25
167758382006A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.20
288479552017Esco1 and Esco2 regulate distinct cohesin functions during cell cycle progression.20
195742592010Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.17

Citation

Dessen P

ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50243/esco2