ESCO2 wt Allele

Preferred Label : ESCO2 wt Allele;

NCIt synonyms : EFO2p; hEFO2; Establishment of Cohesion 1 Homolog 2 (S. cerevisiae) Gene; Establishment of Cohesion 1 Homolog, S. cerevisiae, Homolog of, 2 Gene; JHS; Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2 wt Allele; 2410004I17Rik; ECO1, S. cerevisiae, Homolog of, 2 Gene; Establishment Factor Ortholog 2 Gene; ESO1, S. pombe, Homolog of, 2 Gene; RBS; EFO2; CTF7, S. cerevisiae, Homolog of, 2 Gene;

NCIt definition : Human ESCO2 wild-type allele is located in the vicinity of 8p21.1 and is approximately 48 kb in length. This allele, which encodes N-acetyltransferase ESCO2 protein, is involved in sister chromatid adhesion during S phase. Mutation of the gene is associated with Roberts-SC phocomelia syndrome and orocraniodigital (Juberg-Hayward) syndrome.;

NCI Metathesaurus CUI : CL1905138;

GenBank Accession Number : AF306679;

Details

Origin ID

C191833;

UMLS CUI

C5781211;

OMIM relation
- Establishment of sister chromatid cohesion n-acetyltransferase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p21.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Roberts Syndrome [NCIt concept]
gene_plays_role_in_process
- Mitotic Sister Chromatid Cohesion [NCIt concept]
- Protein Acetylation [NCIt concept]
- Replication-Associated Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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