RGS7

Chr 1

regulator of G protein signaling 7

NCBI Gene: 6000 ENSG00000182901 UniProt: P49802 OMIM: 602517

The RGS7 protein is a GTPase activator that forms a complex with GNB5 to regulate G protein-coupled receptor signaling by promoting inactivation of G protein alpha subunits like GNAO1, and plays a role in synaptic vesicle exocytosis and neuronal excitability. Mutations cause autosomal recessive cone-rod dystrophy with hearing loss, affecting both vision and auditory systems. The gene is highly constrained against loss-of-function variants (LOEUF 0.368), indicating that complete protein loss is likely deleterious.

OMIM ResearchSummary from RefSeq, UniProt

Enables G-protein alpha-subunit binding activity; G-protein beta-subunit binding activity; and GTPase activator activity. Involved in G protein-coupled receptor signaling pathway; negative regulation of G protein-coupled receptor signaling pathway; and positive regulation of GTPase activity. Located in cytosol. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.37

LOEUF

LOF

Mechanism· G2P