Aliases for ESCO2 Gene
External Ids for ESCO2 Gene
Previous HGNC Symbols for ESCO2 Gene
Previous GeneCards Identifiers for ESCO2 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for ESCO2 Gene
ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2) is a Protein Coding gene. Diseases associated with ESCO2 include Roberts Syndrome and Sc Phocomelia Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include lysine N-acetyltransferase activity, acting on acetyl phosphate as donor. An important paralog of this gene is ESCO1.
UniProtKB/Swiss-Prot Summary for ESCO2 Gene
Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234).