RALGAPA2

Chr 20

Ral GTPase activating protein catalytic subunit alpha 2

Also known as: AS250, C20orf74, bA287B20.1, dJ1049G11, dJ1049G11.4, p220

NCBI Gene: 57186 ENSG00000188559 UniProt: Q2PPJ7

The RALGAPA2 protein serves as the catalytic subunit of the RalGAP2 complex, which activates GTPase activity for the small GTPases RALA and RALB involved in cellular signaling and protein localization. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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