ESCO2

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of the cell cycle.

Mutations in the ESCO2 gene are associated with Roberts syndrome.{{cite journal |vauthors=Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW | title = The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity | journal = Hum. Mol. Genet. | volume = 17 | issue = 14 | pages = 2172–80 |date=July 2008 | pmid = 18411254 | doi = 10.1093/hmg/ddn116 | doi-access = free }}

• Cohesin#Clinical significance
• Establishment of sister chromatid cohesion

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• {{cite journal | vauthors = Bender D, De Silva E, Chen J, Poss A, Gawey L, Rulon Z, Rankin, S | title = Multivalent interaction of ESCO2 with replication machinery is required for sister chromatid cohesion in vertebrates | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 117 | issue = 2 | pages = 1081–1089 | date = December 2019 | pmid = 31879348 | doi = 10.1073/pnas.1911936117 | pmc = 6969535| doi-access = free }}
• {{cite journal |vauthors=Enjuanes A, Benavente Y, Bosch F |title=Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. |journal=Cancer Res. |volume=68 |issue= 24 |pages= 10178–86 |year= 2008 |pmid= 19074885 |doi= 10.1158/0008-5472.CAN-08-2221 |display-authors=etal|doi-access=free }}
• {{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |s2cid=7827573 |display-authors=etal|doi-access=free }}
• {{cite journal |vauthors=Nishihara M, Yamada M, Nozaki M |title=Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene. |journal=Biochem. Biophys. Res. Commun. |volume=393 |issue= 1 |pages= 111–7 |year= 2010 |pmid= 20116366 |doi= 10.1016/j.bbrc.2010.01.094 |display-authors=etal}}
• {{cite journal |vauthors=Vega H, Trainer AH, Gordillo M |title=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. |journal=J. Med. Genet. |volume=47 |issue= 1 |pages= 30–7 |year= 2010 |pmid= 19574259 |doi= 10.1136/jmg.2009.068395 |s2cid=39261608 |display-authors=etal|url=http://dare.uva.nl/personal/pure/en/publications/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(0bf8f1b8-4bc6-43f9-981e-1f42ce1141e4).html }}
• {{cite journal |vauthors=van der Lelij P, Godthelp BC, van Zon W |title=The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. |journal=PLOS ONE |volume=4 |issue= 9 |pages= e6936 |year= 2009 |pmid= 19738907 |doi= 10.1371/journal.pone.0006936 |pmc=2734174|bibcode=2009PLoSO...4.6936V |display-authors=etal|doi-access=free }}
• {{cite journal |vauthors=Tomkins D, Hunter A, Roberts M |title=Cytogenetic findings in Roberts-SC phocomelia syndrome(s). |journal=Am. J. Med. Genet. |volume=4 |issue= 1 |pages= 17–26 |year= 1979 |pmid= 495649 |doi= 10.1002/ajmg.1320040104 }}
• {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal |bibcode=2002PNAS...9916899M|doi-access=free }}
• {{cite journal |vauthors=Schüle B, Oviedo A, Johnston K |title=Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. |journal=Am. J. Hum. Genet. |volume=77 |issue= 6 |pages= 1117–28 |year= 2005 |pmid= 16380922 |doi= 10.1086/498695 |pmc=1285169|display-authors=etal}}
• {{cite journal |vauthors=Kim BJ, Kang KM, Jung SY |title=Esco2 is a novel corepressor that associates with various chromatin modifying enzymes. |journal=Biochem. Biophys. Res. Commun. |volume=372 |issue= 2 |pages= 298–304 |year= 2008 |pmid= 18501190 |doi= 10.1016/j.bbrc.2008.05.056 |display-authors=etal}}
• {{cite journal |vauthors=Schulz S, Gerloff C, Ledig S |title=Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. |journal=Prenat. Diagn. |volume=28 |issue= 1 |pages= 42–5 |year= 2008 |pmid= 18186147 |doi= 10.1002/pd.1904 |s2cid=5463824 |display-authors=etal|doi-access=free }}
• {{cite journal |vauthors=Resta N, Susca FC, Di Giacomo MC |title=A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. |journal=J. Cell. Physiol. |volume=209 |issue= 1 |pages= 67–73 |year= 2006 |pmid= 16775838 |doi= 10.1002/jcp.20708 |s2cid=10531373 |display-authors=etal}}

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{{Commons category|ESCO2}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rbs GeneReviews/NIH/NCBI/UW entry on Roberts Syndrome]

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