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ESCO2
Identifiers
Aliases	ESCO2, 2410004I17Rik, EFO2, RBS, establishment of sister chromatid cohesion N-acetyltransferase 2, EFO2p, hEFO2, JHS
External IDs	OMIM: 609353; MGI: 1919238; GeneCards: ESCO2
Gene location (Human) Chr. Chromosome 8 (human) Band 8p21.1 Start 27,771,949 bp End 27,812,640 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 D1 Start 66,056,487 bp End 66,071,443 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte buccal mucosa cell secondary oocyte gonad testicle ventricular zone ganglionic eminence bone marrow cell stromal cell of endometrium rectum Top expressed in zygote hand spermatogonium secondary oocyte morula primary oocyte blastocyst tail of embryo genital tubercle Gonadal ridge More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity acyltransferase activity metal ion binding lysine N-acetyltransferase activity, acting on acetyl phosphate as donor N-acetyltransferase activity acetyltransferase activity Cellular component site of double-strand break XY body chromocenter chromatin Golgi apparatus nucleus nucleoplasm cell junction chromosome Biological process chromosome segregation post-translational protein acetylation cell cycle protein localization to chromatin double-strand break repair hematopoietic progenitor cell differentiation regulation of DNA replication sister chromatid cohesion Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 157570 71988 Ensembl ENSG00000171320 ENSMUSG00000022034 UniProt Q56NI9 Q8CIB9 RefSeq (mRNA) NM_001017420 NM_028039 RefSeq (protein) NP_001017420 NP_082315 Location (UCSC) Chr 8: 27.77 – 27.81 Mb Chr 14: 66.06 – 66.07 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

The ESCO2 gene is located on the short (p) arm of chromosome 8 at position 21.1.

N-acetyltransferase ESCO2, also known as establishment of cohesion 1 homolog 2 or ECO1 homolog 2, is an enzyme that in humans is encoded by the ESCO2 gene.

Function

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.

Clinical significance

Mutations in the ESCO2 gene are associated with Roberts syndrome and Juberg-Hayward Syndrome.

See also

• Cohesin#Clinical significance
• Establishment of sister chromatid cohesion

Further reading

• Bender D, De Silva E, Chen J, Poss A, Gawey L, Rulon Z, et al. (December 2019). "Multivalent interaction of ESCO2 with replication machinery is required for sister chromatid cohesion in vertebrates". Proceedings of the National Academy of Sciences of the United States of America. 117 (2): 1081–1089. doi:10.1073/pnas.1911936117. PMC 6969535. PMID 31879348.
• Enjuanes A, Benavente Y, Bosch F, Martín-Guerrero I, Colomer D, Pérez-Alvarez S, et al. (December 2008). "Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia". Cancer Research. 68 (24): 10178–10186. doi:10.1158/0008-5472.CAN-08-2221. PMID 19074885.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
• Nishihara M, Yamada M, Nozaki M, Nakahira K, Yanagihara I (February 2010). "Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene". Biochemical and Biophysical Research Communications. 393 (1): 111–117. doi:10.1016/j.bbrc.2010.01.094. PMID 20116366.
• Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, et al. (January 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". Journal of Medical Genetics. 47 (1): 30–37. doi:10.1136/jmg.2009.068395. PMID 19574259. S2CID 39261608.
• van der Lelij P, Godthelp BC, van Zon W, van Gosliga D, Oostra AB, Steltenpool J, et al. (September 2009). "The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2". PLOS ONE. 4 (9) e6936. Bibcode:2009PLoSO...4.6936V. doi:10.1371/journal.pone.0006936. PMC 2734174. PMID 19738907.
• Tomkins D, Hunter A, Roberts M (1979). "Cytogenetic findings in Roberts-SC phocomelia syndrome(s)". American Journal of Medical Genetics. 4 (1): 17–26. doi:10.1002/ajmg.1320040104. PMID 495649.
• Schüle B, Oviedo A, Johnston K, Pai S, Francke U (December 2005). "Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation". American Journal of Human Genetics. 77 (6): 1117–1128. doi:10.1086/498695. PMC 1285169. PMID 16380922.
• Kim BJ, Kang KM, Jung SY, Choi HK, Seo JH, Chae JH, et al. (July 2008). "Esco2 is a novel corepressor that associates with various chromatin modifying enzymes". Biochemical and Biophysical Research Communications. 372 (2): 298–304. doi:10.1016/j.bbrc.2008.05.056. PMID 18501190.
• Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, et al. (January 2008). "Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family". Prenatal Diagnosis. 28 (1): 42–45. doi:10.1002/pd.1904. PMID 18186147. S2CID 5463824.
• Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, et al. (October 2006). "A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency". Journal of Cellular Physiology. 209 (1): 67–73. doi:10.1002/jcp.20708. PMID 16775838. S2CID 10531373.

External links

• GeneReviews/NIH/NCBI/UW entry on Roberts Syndrome

This article incorporates text from the United States National Library of Medicine, which is in the public domain.