ESS2

Chr 22

ess-2 spliceosome associated protein

Also known as: DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2

NCBI Gene: 8220 ENSG00000100056 UniProt: Q96DF8 OMIM: 601755

The ESS2 protein is involved in pre-mRNA splicing and may function as a component of C complex spliceosomes. Mutations cause developmental disorders including DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, typically arising from 22q11.2 microdeletions that encompass this gene along with others in the minimal DiGeorge critical region. These disorders follow an autosomal dominant inheritance pattern and primarily affect cardiac, craniofacial, and immune system development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

Mechanism· predicted