ROBO2

Chr 3

roundabout guidance receptor 2

Also known as: SAX3

NCBI Gene: 6092 ENSG00000185008 UniProt: Q9HCK4

ROBO2 encodes a transmembrane receptor for SLIT proteins that functions in axon guidance and cell migration during neuronal development. Mutations cause vesicoureteral reflux, a genitourinary condition characterized by backward flow of urine from the bladder into the ureters or kidneys, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.159), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVesicoureteral reflux 2

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

0.16

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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