Splicing factor ESS-2 homolog (ESS2)

Splicing factor ESS-2 homolog (ESS2) is a peripheral component of the spliceosome found in humans and other eukaryotes, encoded by a gene in the DiGeorge syndrome 22q11.2 deletion region. ESS2 is critical for the regulation of pre-mRNA splicing with specific roles in the transition and assembly of C and C* spliceosome complexes. In addition to its splicing function, ESS2 acts as a transcriptional coregulator, influencing the expression of genes involved in cell differentiation, proliferation, neuronal development, and immune responses. ESS2 has direct interactions with key splicing and transcriptional regulatory proteins, including nuclear hormone receptors. Loss of ESS2 function leads to early embryonic lethality in mice, and dysregulation is implicated in cancer, neurodevelopmental, and autoimmune disorders. The molecular details of ESS2's dual roles in splicing and transcriptional regulation are still under investigation. No drugs are currently known to directly target ESS2, but its central regulatory role makes it a candidate biomarker and a potential future therapeutic target in diseases involving disrupted splicing or transcription regulation[1][2][5].

Other names

ESS2DGCR13DGCR14DGSHDGSIES2DGS-HDGS-IEs2elbis1Splicing factor ESS-2 homologProtein ES2DiGeorge syndrome critical region 13DiGeorge syndrome critical region 14DiGeorge syndrome protein HDiGeorge syndrome gene HDiGeorge syndrome gene IProtein DGCR13Protein DGCR14ess-2 splicing factor homolog