Gene Symbol: esco2
Description: establishment of sister chromatid cohesion N-acetyltransferase 2
Alias: si:dkey-217m5.6, zgc:111795, N-acetyltransferase ESCO2, ECO1 homolog 2, establishment of cohesion 1 homolog 2, un-named hi2865, unm hi2865
Mönnich M, Kuriger Z, Print C, Horsfield J. A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. PLoS ONE. 2011;6:e20051 pubmed publisher
..Once on chromosomes, cohesin binding is stabilized in S phase upon acetylation by ESCO2. CdLS is caused by heterozygous mutations in NIPBL or cohesin subunits SMC1A and SMC3, and RBS is caused by ..
Banerji R, Eble D, Iovine M, Skibbens R. Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin. Dev Dyn. 2016;245:7-21 pubmed publisher
..RBS arises from mutations in ESCO2 that encodes an acetyltransferase and modifies the cohesin subunit SMC3...
Milan D, Kim A, Winterfield J, Jones I, Pfeufer A, Sanna S, et al
. Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization. Circulation. 2009;120:553-9 pubmed publisher
..Among these genes is GINS3, the human ortholog of which is a major locus in 2 concurrent human genome-wide association studies of QT interval. These results reveal a novel network of genes that regulate cardiac repolarization. ..
Percival S, Thomas H, Amsterdam A, Carroll A, Lees J, Yost H, et al
. Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome. Dis Model Mech. 2015;8:941-55 pubmed publisher
Mutations in ESCO2, one of two establishment of cohesion factors necessary for proper sister chromatid cohesion (SCC), cause a spectrum of developmental defects in the autosomal-recessive disorder Roberts syndrome (RBS), warranting in ..
Xu B, Gogol M, Gaudenz K, Gerton J. Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome. BMC Genomics. 2016;17:25 pubmed publisher
Roberts syndrome (RBS) is a human developmental disorder caused by mutations in the cohesin acetyltransferase ESCO2. We previously reported that mTORC1 signaling was depressed and overall translation was reduced in RBS cells and ..