G3BP2

Chr 4

G3BP stress granule assembly factor 2

NCBI Gene: 9908 ENSG00000138757 UniProt: Q9UN86

The G3BP2 protein serves as a scaffold for cytoplasmic stress granule formation, which are membraneless compartments that store mRNAs and proteins in response to cellular stress and function as platforms for antiviral signaling. Mutations in this gene cause neurodevelopmental disorders with onset in infancy or early childhood, featuring developmental delay, intellectual disability, seizures, and brain malformations, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that proper protein function is critical for normal development.

ResearchSummary from RefSeq, UniProt

Enables molecular condensate scaffold activity. Involved in positive regulation of stress granule assembly; protein homooligomerization; and stress granule assembly. Located in cytoplasmic stress granule and cytosol. [provided by Alliance of Genome Resources, Apr 2025]

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

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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