CAPRIN2

Chr 12

caprin family member 2

Also known as: C1QDC1, EEG-1, EEG1, RNG140

NCBI Gene: 65981 ENSG00000110888 UniProt: Q6IMN6 OMIM: 610375

CAPRIN2 encodes a protein that regulates mRNA transport and translation, promotes Wnt signaling pathway activity through LRP6 phosphorylation, and is involved in erythroblast differentiation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, presenting in early infancy with severe intellectual disability, seizures, and dystonic movements. The gene shows high constraint against loss-of-function variants (LOEUF 0.38), indicating intolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

OMIM 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)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism