NXF2B

Chr X

nuclear RNA export factor 2B

Also known as: bA353J17.1

NCBI Gene: 728343 ENSG00000269437 UniProt: Q9GZY0

The protein facilitates the export of mRNA from the nucleus to the cytoplasm as part of the nuclear RNA export machinery. Mutations cause intellectual disability and developmental delay with X-linked inheritance. The gene shows significant constraint against loss-of-function variants, suggesting intolerance to reduced protein function.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Jun 2015]

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

0.56

LOEUF

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Mechanism