CPEB2

Chr 4

cytoplasmic polyadenylation element binding protein 2

Also known as: CPE-BP2, CPEB-2, hCPEB-2

NCBI Gene: 132864 ENSG00000137449 UniProt: Q7Z5Q1 OMIM: 610605

CPEB2 encodes a cytoplasmic polyadenylation element binding protein that regulates mRNA translation and is required for cell cycle progression from metaphase to anaphase. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and brain malformations. The gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

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Mechanism