ICE2

Chr 15

interactor of little elongation complex ELL subunit 2

Also known as: BRCC1, NARG2

NCBI Gene: 79664 ENSG00000128915 UniProt: Q659A1 OMIM: 610835

ICE2 encodes a component of the little elongation complex that regulates small nuclear RNA gene transcription by RNA polymerases II and III, with the protein localizing to Cajal bodies where ribonucleoprotein complexes assemble. Mutations cause neurodevelopmental disorder with growth retardation, seizures, and speech and language delay, inherited in an autosomal recessive pattern. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

—

Mechanism