RABEP2

Chr 16

rabaptin, RAB GTPase binding effector protein 2

Also known as: FRA

NCBI Gene: 79874 ENSG00000177548 UniProt: Q9H5N1

The RABEP2 protein functions as a GTPase activator involved in membrane trafficking, early endosome fusion, and ciliogenesis through centrosome localization. Mutations cause autosomal recessive developmental delays, intellectual disability, and microcephaly with potential involvement of ciliary dysfunction pathways. This gene is highly constrained against loss-of-function variants, suggesting intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in centrosome; ciliary basal body; and cytosol. [provided by Alliance of Genome Resources, Jun 2026]

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

—

P/LP missense

0.57

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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