RUFY3

Chr 4

RUN and FYVE domain containing 3

Also known as: RIPX, SINGAR1, ZFYVE30

NCBI Gene: 22902 ENSG00000018189 UniProt: Q7L099

RUFY3 encodes a protein that promotes retrograde transport of endolysosomes along microtubules and is required for maintenance of neuronal polarity and axon formation. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and neurological features. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

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)

—

P/LP submissions

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P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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