Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2

Alternative Names

  • ESCO2
  • Establishment Of Cohesion 1, S. Cerevisiae, Homolog of, 2
  • ECO1, S. Cerevisiae, Homolog of, 2
  • CTF7, S. Cerevisiae, Homolog of, 2
  • ESO1, S. Pombe, Homolog of, 2
  • Establishment Factor Ortholog 2
  • EFO2
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OMIM Number

609353

NCBI Gene ID

157570

Uniprot ID

Q56NI9

Length

47,687 bases

No. of Exons

14

No. of isoforms

2

Protein Name

N-acetyltransferase ESCO2

Molecular Mass

68307 Da

Amino Acid Count

601

Genomic Location

chr8:27,771,974-27,819,660

Gene Map Locus
8p21.1

Description

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 mitosis. Mutations in this gene have been associated with Roberts syndrome. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001017420.3:c.1132-7A>GSaudi ArabiaNC_000008.11:g.27788840A>GLikely Pathogenic, PathogenicLikely PathogenicRoberts-SC Phocomelia SyndromeNG_008117.1:g.19300A>G; NM_001017420.3:c.1132-7A>G; NP_001017420.1:p.?8035986221234
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