RGS7
Chr 1regulator of G protein signaling 7
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RGS7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools