Property Summary

NCBI Gene PubMed Count 21
Grant Count 51
R01 Count 18
Funding $16,502,372.25
PubMed Score 229.22
PubTator Score 68.44

Knowledge Summary

Patent

No data available

Expression

Gene RIF (14)

PMID Text
22614755 The Esco2 is required for double-strand break (DSB) repair, which is consistent with previous studies in Roberts syndrome(RBS) cells.
21777535 the ESCO2 gene mutation responsible for developmental abnormalities maps to chromosome 8p21.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20116366 These results demonstrated that the Staf binding site functioned as the basal transcriptional activator of the S phase-specific gene ESCO2, but other mechanisms are required for cell cycle-dependent expression.
19738907 ESCO2 has an S-phase specific role in the maintenance of genome stability
19574259 In situ hybridisation on human embryos showed ESCO2 expression in the brain, face, limb, kidney and gonads, which corresponds to the structures affected in Roberts syndrome.
19074885 Observational study of gene-disease association. (HuGE Navigator)
18501190 These results suggest a novel function of Esco2 in transcription repression through modulation of the chromatin structure.
18411254 Loss of ESCO2 acetyltransferase activity contributes to the pathogenesis of Roberts syndrome/SC phocomelia.
18186147 detection of an ESCO2 frameshift mutation in Roberts syndrome in a Pakistani family
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AA Sequence

MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPS      1 - 70
ANQGSPFKSALSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKP     71 - 140
QKSLTAKYQPKYRHIKPVSRNSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAA    141 - 210
FFVRKKSSLRKSSLENEPSLGRTQKSKSEVIEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASSK    211 - 280
NKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTISPKSTVYPIFSASSVNSKRSLGEEQFSVGSV    281 - 350
NFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASNPEDEMQHVQHHHRFLEGIKY    351 - 420
VGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFLFISDEKRVVG    421 - 490
CLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNC    491 - 560
FMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFNS                                 561 - 601
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Text Mined References (28)

PMID Year Title
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22614755 2012 The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions.
21777535 2011 A child with Roberts syndrome.
21111234 2010 Sororin mediates sister chromatid cohesion by antagonizing Wapl.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20116366 2010 Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19907496 2009 Cohesin acetylation speeds the replication fork.
19738907 2009 The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.
19574259 2010 Phenotypic 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.
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