Located in nucleus. Expressed in several structures, including body wall musculature; neurons; pharynx; and seam cell. Used to study DiGeorge syndrome and velocardiofacial syndrome. Is an ortholog of human ESS2 (ess-2 splicing factor homolog).
Is affected by ivermectin based on RNA-seq studies. Is predicted to encode a protein with the following domains: Nuclear protein Es2 and Nuclear protein DGCR14/ESS-2. Is an ortholog of C. elegans ess-2.
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]