NCBP2

Chr 3

nuclear cap binding protein subunit 2

Also known as: CBC2, CBP20, NIP1, PIG55

NCBI Gene: 22916 ENSG00000114503 UniProt: P52298

NCBP2 encodes a component of the nuclear cap-binding complex that binds to the 5' cap of pre-mRNAs and regulates pre-mRNA splicing, mRNA export from the nucleus, and nonsense-mediated mRNA decay. Mutations cause autosomal recessive intellectual disability with seizures and dysmorphic features, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.675), suggesting some tolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.68

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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