WBP11

Chr 12

WW domain binding protein 11

Also known as: BUG13, NPWBP, PPP1R165, SIPP1, VCTERL, VCTRL, WBP-11

NCBI Gene: 51729 ENSG00000084463 UniProt: Q9Y2W2

The protein activates pre-mRNA splicing and may inhibit PP1 phosphatase activity, functioning as a component of nuclear mRNA processing machinery. Mutations cause vertebral, cardiac, tracheoesophageal, renal, and limb defects with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.148), indicating intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVertebral, cardiac, tracheoesophageal, renal, and limb defects

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

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted

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