Property Summary

NCBI Gene PubMed Count 21
PubMed Score 229.22
PubTator Score 68.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
osteosarcoma -2.143 3.3e-05
glioblastoma 1.300 1.4e-03
medulloblastoma, large-cell 2.100 6.5e-05
primitive neuroectodermal tumor 1.200 9.2e-03
intraductal papillary-mucinous carcinoma... 1.200 1.0e-02
active Crohn's disease 1.063 3.1e-02
pediatric high grade glioma 1.300 1.5e-04
group 3 medulloblastoma 1.400 1.7e-04
non primary Sjogren syndrome sicca -1.100 3.5e-02
nasopharyngeal carcinoma 1.600 4.6e-04
non-small cell lung carcinoma 1.500 1.0e-17
ovarian cancer 1.900 6.7e-05
psoriasis 1.700 3.9e-70

Protein-protein Interaction (4)

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
16775838 We used Western blot analysis to demonstrate the absence of the ESCO2-truncated protein in cells derived from both fetuses and in a lymphoblastoid cell line derived from the parents.
16380922 Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: there is no phenotype-genotype correlation.
15958495 EFO1 and EFO2 are targeted to different chromosome structures to help establish or maintain sister-chromatid cohesion
15821733 required for the establishment of sister chromatid cohesion during S phase

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
//

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.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18501190 2008 Esco2 is a novel corepressor that associates with various chromatin modifying enzymes.
18411254 2008 The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18186147 2008 Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16775838 2006 A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16380922 2005 Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
15958495 2005 Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion.
15821733 2005 Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11111111 2000 Epidemiology of the antibiotic resistance of Helicobacter pylori in Canada.
495649 1979 Cytogenetic findings in Roberts-SC phocomelia syndrome(s).