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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GNB4
G protein subunit beta 4
Chromosome 3 · 3q26.33
NCBI Gene: 59345Ensembl: ENSG00000114450.12HGNC: HGNC:20731UniProt: Q9HAV0
99PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
substantia nigra developmentprotein bindinglysosomal membraneextracellular exosomeAutosomal dominant intermediate Charcot-Marie-Tooth disease type FCharcot-Marie-Tooth disease dominant intermediate Fatrial fibrillationkidney disease
✦AI Summary

GNB4 encodes guanine nucleotide-binding protein subunit beta 4, a component of heterotrimeric G protein complexes essential for G protein-mediated signal transduction 1. As part of the Gβγ dimer, GNB4 is required for GTPase activity, GDP-GTP exchange, and G protein-effector interactions in transmembrane signaling pathways. GNB4 is associated with Charcot-Marie-Tooth disease intermediate form (DI-CMT), an autosomal dominant peripheral neuropathy 2. Beyond neuropathy, GNB4 has emerged as a cancer-associated gene; its expression is significantly upregulated in gastric cancer and correlates with aggressive clinical characteristics and poor prognosis 34. H. pylori infection promotes GNB4 upregulation through demethylation of its promoter region via the NF-κB-TET1 pathway, subsequently activating the oncogenic Hippo-YAP1 signaling axis 3. Additionally, a GNB4-derived circular RNA (circ-GNB4) contributes to diabetic nephropathy through the circ-GNB4/miR-23c/EGR1 pathway, regulating mesangial cell proliferation, inflammation, and oxidative stress 5. Recent genetic analyses implicate GNB4 as a candidate gene in atrial fibrillation susceptibility 6. These findings position GNB4 at the intersection of signal transduction, peripheral neuropathy, cancer biology, and metabolic disease pathogenesis.

Sources cited
1
GNB4 is a recently identified CMT disease-causing gene and part of G protein signaling complexes
PMID: 25110935
2
GNB4 is associated with autosomal dominant intermediate Charcot-Marie-Tooth disease
PMID: 25326399
3
GNB4 is upregulated in gastric cancer via H. pylori-induced demethylation and promotes tumorigenesis through the Hippo-YAP1 pathway
PMID: 37016382
4
GNB4 expression is significantly higher in gastric cancer compared to normal mucosa and associates with tumor immune infiltration
PMID: 35756485
5
GNB4-derived circular RNA participates in diabetic nephropathy through the circ-GNB4/miR-23c/EGR1 pathway
PMID: 35170486
6
GNB4 variants are implicated as candidate causal genes in atrial fibrillation through eQTL and fine-mapping analyses
PMID: 39262787
Disease Associationsⓘ21
Autosomal dominant intermediate Charcot-Marie-Tooth disease type FOpen Targets
0.64Moderate
Charcot-Marie-Tooth disease dominant intermediate FOpen Targets
0.63Moderate
atrial fibrillationOpen Targets
0.53Moderate
kidney diseaseOpen Targets
0.32Weak
breast diseaseOpen Targets
0.31Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.15Weak
Uterine leiomyomaOpen Targets
0.13Weak
gastric cancerOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.03Suggestive
hemoglobin H diseaseOpen Targets
0.03Suggestive
X-linked retinoschisisOpen Targets
0.03Suggestive
Charcot-Marie-Tooth disease, dominant intermediate FUniProt
Pathogenic Variants6
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate F|not provided
★★☆☆2025→ Residue 57
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate F
★★☆☆2024→ Residue 77
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate F
★☆☆☆2025→ Residue 89
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)Likely pathogenic
Charcot-Marie-Tooth disease dominant intermediate F
★☆☆☆2020→ Residue 76
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)Likely pathogenic
Charcot-Marie-Tooth disease dominant intermediate F
★☆☆☆2019→ Residue 53
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg)Likely pathogenic
Charcot-Marie-Tooth disease dominant intermediate F
☆☆☆☆2017→ Residue 220
View on ClinVar ↗
Related Genes
CKBShared pathway100%NDRG2Shared pathway100%SYPL2Shared pathway100%ZNF430Shared pathway100%GNB1Protein interaction99%GNAI1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
46%
Lung
40%
Brain
40%
Ovary
13%
Liver
10%
Gene Interaction Network
Click a node to explore
GNB4CKBNDRG2SYPL2ZNF430GNB1GNAI1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HAV0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.55 [0.36–0.86]
RankingsWhere GNB4 stands among ~20K protein-coding genes
  • #4,836of 20,598
    Most Researched99 · top quartile
  • #3,342of 5,498
    Most Pathogenic Variants6
  • #7,565of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedGNB4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Helicobacter pylori-induced aberrant demethylation and expression of GNB4 promotes gastric carcinogenesis via the Hippo-YAP1 pathway.
PMID: 37016382
BMC Med · 2023
0.90
3
Intermediate Charcot-Marie-Tooth disease.
PMID: 25326399
Neurosci Bull · 2014
0.80
4
Disrupting circ-GNB4 mitigates high glucose-induced human mesangial cells injury by regulating the proliferation, ECM accumulation, inflammation and oxidative stress through circ-GNB4/miR-23c/EGR1 pathway [RETRACTED].
PMID: 35170486
J Cardiovasc Pharmacol · 2022
0.70
5
Atrial fibrillation variant-to-gene prioritization through cross-ancestry eQTL and single-nucleus multiomic analyses.
PMID: 39262787
iScience · 2024
0.60