ESCO2

ESCO2
Identifiers
Aliases	ESCO2 , 2410004I17Rik, EFO2, RBS, establishment of sister chromatid cohesion N-acetyltransferase 2, EFO2p, hEFO2, JHS
External IDs	OMIM: 609353; MGI: 1919238; HomoloGene: 12432; GeneCards: ESCO2; OMA:ESCO2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p21.1 Start 27,771,949 bp [1] End 27,812,640 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 D1 Start 66,056,487 bp [2] End 66,071,443 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte buccal mucosa cell secondary oocyte gonad testicle ventricular zone ganglionic eminence bone marrow cells 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 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 [3] [4]
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. ^{[5] [6] [7]}

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. ^[5]

Clinical significance

Mutations in the ESCO2 gene are associated with Roberts syndrome. ^[8]

See also

• Cohesin#Clinical significance
• Establishment of sister chromatid cohesion

References

1. GRCh38: Ensembl release 89: ENSG00000171320 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022034 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".
6. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H (May 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" (PDF). Nat. Genet. 37 (5): 468–70. doi:10.1038/ng1548. PMID   15821733. S2CID   22948986.
7. Hou F, Zou H (August 2005). "Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion". Mol. Biol. Cell. 16 (8): 3908–18. doi:10.1091/mbc.E04-12-1063. PMC   1182326 . PMID   15958495.
8. 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 (July 2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity". Hum. Mol. Genet. 17 (14): 2172–80. doi: 10.1093/hmg/ddn116 . PMID   18411254.

Further reading

• Bender D, De Silva E, Chen J, Poss A, Gawey L, Rulon Z, Rankin, S (December 2019). "Multivalent interaction of ESCO2 with replication machinery is required for sister chromatid cohesion in vertebrates". Proc. Natl. Acad. Sci. U.S.A. 117 (2): 1081–1089. doi: 10.1073/pnas.1911936117 . PMC   6969535 . PMID   31879348.
• Enjuanes A, Benavente Y, Bosch F, et al. (2008). "Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia". Cancer Res. 68 (24): 10178–86. doi: 10.1158/0008-5472.CAN-08-2221 . PMID   19074885.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Nishihara M, Yamada M, Nozaki M, et al. (2010). "Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene". Biochem. Biophys. Res. Commun. 393 (1): 111–7. doi:10.1016/j.bbrc.2010.01.094. PMID   20116366.
• Vega H, Trainer AH, Gordillo M, et al. (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". J. Med. Genet. 47 (1): 30–7. doi:10.1136/jmg.2009.068395. PMID   19574259. S2CID   39261608.
• van der Lelij P, Godthelp BC, van Zon W, et al. (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)". Am. J. Med. Genet. 4 (1): 17–26. doi:10.1002/ajmg.1320040104. PMID   495649.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Schüle B, Oviedo A, Johnston K, et al. (2005). "Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation". Am. J. Hum. Genet. 77 (6): 1117–28. doi:10.1086/498695. PMC   1285169 . PMID   16380922.
• Kim BJ, Kang KM, Jung SY, et al. (2008). "Esco2 is a novel corepressor that associates with various chromatin modifying enzymes". Biochem. Biophys. Res. Commun. 372 (2): 298–304. doi:10.1016/j.bbrc.2008.05.056. PMID   18501190.
• Schulz S, Gerloff C, Ledig S, et al. (2008). "Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family". Prenat. Diagn. 28 (1): 42–5. doi: 10.1002/pd.1904 . PMID   18186147. S2CID   5463824.
• Resta N, Susca FC, Di Giacomo MC, et al. (2006). "A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency". J. Cell. Physiol. 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.