GRID2IP

Chr 7

Grid2 interacting protein

GRID2IP encodes a postsynaptic scaffolding protein that links the glutamate receptor GRID2 with the actin cytoskeleton and signaling molecules at parallel fiber-Purkinje cell synapses in the cerebellum. Mutations cause autosomal recessive spinocerebellar ataxia-18, characterized by cerebellar ataxia and intellectual disability. The gene shows significant constraint against loss-of-function variants (LOEUF 0.42), indicating that complete loss of function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules

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

0.42

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

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