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; GeneCards: ESCO2
Gene location (Human)
Chr.	Chromosome 8 (human)
End	27,812,640 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	66,071,443 bp
RNA expression pattern
	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
	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
	157570
	71988
	ENSG00000171320
	ENSMUSG00000022034
	Q56NI9
	Q8CIB9
	NM_001017420
	NM_028039
	NP_001017420
	NP_082315
	Wikidata
View/Edit Human	View/Edit Mouse

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000171320 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022034 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".
↑ Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, et al. (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". Nature Genetics. 37 (5): 468–470. doi:10.1038/ng1548. PMID 15821733. S2CID 22948986.
↑ Hou F, Zou H (August 2005). "Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion". Molecular Biology of the Cell. 16 (8): 3908–3918. doi:10.1091/mbc.E04-12-1063. PMC 1182326. PMID 15958495.
↑ Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, et al. (July 2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity". Human Molecular Genetics. 17 (14): 2172–2180. doi:10.1093/hmg/ddn116. PMID 18411254.
↑ Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, et al. (January 2021). "Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2". European Journal of Orthodontics. 43 (1): 45–50. doi:10.1093/ejo/cjaa023. PMID 32255174.

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.

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000171320 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".

[Vega_2005-6] Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, et al. (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". Nature Genetics. 37 (5): 468–470. doi:10.1038/ng1548. PMID 15821733. S2CID 22948986.

[Hou_2005-7] Hou F, Zou H (August 2005). "Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion". Molecular Biology of the Cell. 16 (8): 3908–3918. doi:10.1091/mbc.E04-12-1063. PMC 1182326. PMID 15958495.

[Gordillo_2008-8] Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, et al. (July 2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity". Human Molecular Genetics. 17 (14): 2172–2180. doi:10.1093/hmg/ddn116. PMID 18411254.

[9] Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, et al. (January 2021). "Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2". European Journal of Orthodontics. 43 (1): 45–50. doi:10.1093/ejo/cjaa023. PMID 32255174.

ESCO2

Function

Clinical significance

See also

References

Further reading

External links