PRICKLE2

Chr 3

prickle planar cell polarity protein 2

Also known as: EPM5

NCBI Gene: 166336 ENSG00000163637 UniProt: Q7Z3G6

The protein regulates axon initial segment architecture by controlling ANK3/ANKG localization and microtubule bundling, which is crucial for establishing neuronal polarity. Mutations cause progressive myoclonic epilepsy type 5 with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADLimitednot for standalone diagnostic reporting

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

0.28

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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