RGS7

Chr 1

regulator of G protein signaling 7

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]

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.37
Clinical SummaryRGS7
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.78) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.37LOEUF
pLI 0.777
Z-score 4.46
OE 0.20 (0.110.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.47Z-score
OE missense 0.58 (0.500.66)
155 obs / 269.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.20 (0.110.37)
00.351.4
Missense OE?0.58 (0.500.66)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 7 / 35.8Missense obs/exp: 155 / 269.2Syn Z: 0.00
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedRGS7-related intellectual developmental disorderLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.5673th %ile
GOF
0.6442th %ile
LOF
0.53top 25%

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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