NXF2

Chr X

nuclear RNA export factor 2

Also known as: CT39, TAPL-2

NCBI Gene: 56001 ENSG00000269405 UniProt: Q9GZY0 OMIM: 300315

The protein facilitates the export of mRNA from the nucleus to the cytoplasm as part of the nuclear RNA export machinery. Mutations cause X-linked intellectual disability, often with delayed speech and language development. This follows X-linked inheritance with males more severely affected than carrier females.

OMIM 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, Aug 2013]

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

0.86

LOEUF

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Mechanism