PCBP3

Chr 21

poly(rC) binding protein 3

Also known as: ALPHA-CP3, PCBP3-OT1, PCBP3OT

NCBI Gene: 54039 ENSG00000183570 UniProt: P57721 OMIM: 608502

The protein encoded by this gene is a single-stranded nucleic acid binding protein that binds preferentially to cytosine-rich sequences and plays important roles in post-transcriptional RNA regulation. Mutations in PCBP3 cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is not well-tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]

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

0.39

LOEUF

LOF

Mechanism· predicted