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ESCO2

From Wikipedia, the free encyclopedia

ESCO2
Identifiers
AliasesESCO2, 2410004I17Rik, EFO2, RBS, establishment of sister chromatid cohesion N-acetyltransferase 2, EFO2p, hEFO2, JHS
External IDsOMIM: 609353 MGI: 1919238 HomoloGene: 12432 GeneCards: ESCO2
Orthologs
SpeciesHumanMouse
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 MbChr 14: 66.06 – 66.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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Transcription

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171320 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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

External links

Wikimedia Commons has media related to ESCO2.

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


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This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 19 February 2024, at 18:27
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