RGS22

Chr 8

regulator of G protein signaling 22

Also known as: CT145, PRTD-NY2

NCBI Gene: 26166 ENSG00000132554 UniProt: Q8NE09 OMIM: 615650

The RGS22 protein inhibits G-protein signaling by increasing the GTPase activity of G protein alpha subunits, driving them into their inactive GDP-bound form. Mutations in RGS22 cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and developmental regression. The gene shows minimal constraint against loss-of-function variants in population databases.

OMIM ResearchSummary from RefSeq, UniProt

Enables G-protein alpha-subunit binding activity. Predicted to be involved in negative regulation of signal transduction. Located in cytosol and fibrillar center. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

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Mechanism