NXF3

Chr X

nuclear RNA export factor 3

NCBI Gene: 56000 ENSG00000147206 UniProt: Q9H4D5 OMIM: 300316

This protein functions as a tissue-specific nuclear mRNA export factor that transports RNA from the nucleus to the cytoplasm. The gene is highly constrained against loss-of-function variants (LOEUF 0.599), suggesting that mutations would likely cause significant developmental effects, though no specific human disease phenotype has been definitively established for NXF3 mutations. The inheritance pattern for any potential NXF3-related disorder would be expected to be autosomal.

OMIM ResearchSummary from RefSeq, UniProt

This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008]

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

0.60

LOEUF

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Mechanism