XB-FEAT-980794

ess2

This is the community wiki page for the gene ess2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

06/05/2017 Human symbol has changed for genepage ID: 980794 From dgcr14 to ess2

Human symbol has changed for Entrez Gene: 8220. From DGCR14 to ESS2

Human name has changed for Entrez Gene: 8220. From DiGeorge syndrome critical region gene 14 to ess-2 splicing factor homolog

summary

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]