ESCO2

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]

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

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