CELF2

Chr 10

CUGBP Elav-like family member 2

Also known as: BRUNOL3, CELF-2, CUG-BP2, CUGBP2, DEE97, ETR-3, ETR3, NAPOR

NCBI Gene: 10659 ENSG00000048740 UniProt: O95319

CELF2 encodes an RNA-binding protein that regulates pre-mRNA alternative splicing, mRNA stability, and translation through binding to UG-rich sequences and other RNA motifs. Mutations cause developmental and epileptic encephalopathy 97, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.174), consistent with its critical role in neurodevelopment.

ResearchSummary from RefSeq, OMIM, UniProt

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 97

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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