Splicing factor ESS-2 homolog is a protein that in humans is encoded by the ESS2 gene (previously DGCR13 or DGCR14). This protein may be involved in RNA splicing.
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.
References
Further reading