NXT2

Chr X

nuclear transport factor 2 like export factor 2

Also known as: P15-2

NCBI Gene: 55916 ENSG00000101888 UniProt: Q9NPJ8 OMIM: 300320

The protein regulates nuclear export of NES-containing proteins and mRNA, facilitating trafficking between the cytoplasm and nucleus. Mutations in this highly constrained gene (pLI 0.83, LOEUF 0.51) cause neurodevelopmental disorders with intellectual disability and developmental delay. The inheritance pattern has not been definitively established from available data.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

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Mechanism