Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, dominant intermediate FMIM #615185
AD

Clinical highlights

Gene-disease validity (ClinGen)
Charcot-Marie-Tooth disease · ADModerateconsider for supplementary testing
3
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
0.70
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.002
Z-score 2.58
OE 0.39 (0.230.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.11Z-score
OE missense 0.57 (0.490.67)
112 obs / 194.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.39 (0.230.70)
00.351.4
Missense OE?0.57 (0.490.67)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 8 / 20.7Missense obs/exp: 112 / 194.9Syn Z: 0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GNB4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.