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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLEKHG4
pleckstrin homology and RhoGEF domain containing G4
Chromosome 16 · 16q22.1
NCBI Gene: 25894Ensembl: ENSG00000196155.14HGNC: HGNC:24501UniProt: A0A024R6X4
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingaxon guidanceguanyl-nucleotide exchange factor activitycytoplasmspinocerebellar ataxia type 31androgenetic alopeciaovarian dysfunctionprostate carcinoma
✦AI Summary

PLEKHG4 is a Rho guanine nucleotide exchange factor (GEF) that regulates small GTPase signaling, particularly RhoA, Cdc42, and Rac1 activation 1. The protein contains pleckstrin homology and RhoGEF domains and plays roles in cytoskeletal dynamics and cellular signaling 2. PLEKHG4 functions in glucose homeostasis by mediating insulin-stimulated GLUT4 translocation and glucose uptake in skeletal muscle and adipose tissues 3. In neurons, PLEKHG4 binds and colocalizes with Kv3.3 potassium channels in Purkinje and auditory brainstem neurons, where it normally shows uniform cytoplasmic distribution 2. Disease relevance includes involvement in thyroid cancer progression, where PLEKHG4 is upregulated and promotes malignant phenotypes including proliferation, migration, invasion, and epithelial-mesenchymal transition through RhoGTPase activation 1. In spinocerebellar ataxia, mutations affecting Kv3.3 channels cause PLEKHG4 to form cytoplasmic aggregates, suggesting disrupted normal function 2. The protein is regulated by ubiquitin-conjugating enzyme UBE2O, which facilitates its ubiquitination and degradation 1. PLEKHG4 has been investigated as a candidate gene for hearing impairment but no causal variants were identified 4.

Sources cited
1
PLEKHG4 activates RhoA, Cdc42, and Rac1 GTPases and promotes thyroid cancer malignant phenotypes
PMID: 37336836
2
PLEKHG4 binds Kv3.3 channels in neurons and forms aggregates in disease states
PMID: 40249242
3
PLEKHG4 mediates insulin-stimulated GLUT4 translocation in glucose homeostasis
PMID: 33923452
4
PLEKHG4 was investigated as candidate gene for autosomal recessive hearing impairment
PMID: 21181198
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
spinocerebellar ataxia type 31Open Targets
0.11Weak
androgenetic alopeciaOpen Targets
0.06Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
smoking behaviorOpen Targets
0.03Suggestive
cerebellar ataxiaOpen Targets
0.02Suggestive
autosomal dominant cerebellar ataxiaOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
Treacher-Collins syndromeOpen Targets
0.01Suggestive
large cell medulloblastomaOpen Targets
0.01Suggestive
thyroid cancerOpen Targets
0.01Suggestive
AtaxiaOpen Targets
0.01Suggestive
autosomal recessive cerebellar ataxiaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Dentatorubral pallidoluysian atrophyOpen Targets
0.00Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
cerebellar disorderOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
microphthalmia with limb anomaliesOpen Targets
0.00Suggestive
Sensory axonal neuropathyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARHGEF25Shared pathway100%ARHGEF40Shared pathway100%CDC42Protein interaction82%BEAN1Protein interaction79%ATXN1Protein interaction75%ATXN7Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Lung
20%
Bone Marrow
19%
Brain
12%
Heart
5%
Liver
2%
Gene Interaction Network
Click a node to explore
PLEKHG4ARHGEF25ARHGEF40CDC42BEAN1ATXN1ATXN7
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q58EX7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.50–0.72]
RankingsWhere PLEKHG4 stands among ~20K protein-coding genes
  • #10,673of 20,598
    Most Researched37
  • #5,543of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedPLEKHG4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Activation of a Potassium Channel Mutation That Causes Spinocerebellar Ataxia Promotes Aggregation of the RhoGEF Domain-Containing Protein Plekhg4.
PMID: 40249242
FASEB J · 2025
1.00
2
Rho Family GTPases and Rho GEFs in Glucose Homeostasis.
PMID: 33923452
Cells · 2021
0.90
3
Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer.
PMID: 37336836
Apoptosis · 2023
0.80
4
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.
PMID: 20424877
Neurogenetics · 2010
0.70
5
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
PMID: 21181198
Hum Genet · 2011
0.60