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GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLEKHG4B
pleckstrin homology and RhoGEF domain containing G4B
Chromosome 5 · 5p15.33
NCBI Gene: 153478Ensembl: ENSG00000153404.15HGNC: HGNC:29399UniProt: A0AAK2PKJ8
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activitynucleuscell-cell junctionbasal plasma membraneatrial fibrillationhearing losscardiac arrhythmiacervical carcinoma
✦AI Summary

PLEKHG4B is a guanine nucleotide exchange factor (GEF) that specifically activates the small GTPase CDC42 by catalyzing GDP-to-GTP exchange. This function enables its primary role in regulating actin cytoskeletal remodeling during late-stage cell-cell junction formation by controlling actin filament contractility, facilitating the transition from 'open' to 'closed' junctions. Beyond junction formation, PLEKHG4B exhibits disease-relevant roles in multiple malignancies. In hepatocellular carcinoma (HCC), PLEKHG4B is frequently targeted by HBV integration and functions downstream of the circ_0008043/miR-661 axis to promote cell migration and epithelial-mesenchymal transition 1 2. A super-enhancer-associated PLEKHG4B variant contributes to bladder cancer prognosis prediction 3, while elevated PLEKHG4B expression associates with ovarian cancer recurrence risk 4. Clinically, a missense variant (rs150706952, A432V) in PLEKHG4B shows significant association with white matter and gray matter diffusivity in type 2 diabetes populations, suggesting neurological involvement 5. Additionally, PLEKHG4B expression is differentially regulated in uterine fibroids in a race/ethnicity-dependent manner 6. These findings indicate PLEKHG4B functions beyond cytoskeletal regulation in disease pathogenesis, positioning it as a potential therapeutic target across multiple cancer types and metabolic conditions.

Sources cited
1
PLEKHG4B is included in a multi-RNA signature for predicting ovarian cancer recurrence and disease-free survival
PMID: 32149080
2
PLEKHG4B is identified as one of the three most frequently targeted genes by HBV integration in hepatocellular carcinoma
PMID: 34071075
3
A missense variant rs150706952 (A432V) in PLEKHG4B associates with white matter and gray matter mean diffusivity in type 2 diabetes populations
PMID: 25523635
4
PLEKHG4B is regulated by the circ_0008043/miR-661 axis and promotes HCC cell migration, EMT, and metastasis
PMID: 40628993
5
PLEKHG4B expression is significantly higher in uterine fibroids from Black and Hispanic patients compared to White patients
PMID: 37686244
6
PLEKHG4B is embedded in a super-enhancer shared with LRRC14B in skeletal muscle epigenetic regulation
PMID: 34968235
7
PLEKHG4B is included in a super-enhancer-associated gene prognosis model for bladder cancer outcomes prediction
PMID: 41870815
8
PLEKHG4B is identified as a gene variant associated with gastroschisis in cell adhesion regulation pathways
PMID: 31075877
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.46Moderate
hearing lossOpen Targets
0.38Weak
cardiac arrhythmiaOpen Targets
0.36Weak
cervical carcinomaOpen Targets
0.23Weak
amputationOpen Targets
0.22Weak
alcohol drinkingOpen Targets
0.21Weak
DNA methylationOpen Targets
0.19Weak
Alzheimer diseaseOpen Targets
0.19Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
atrial flutterOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
Tetralogy of FallotOpen Targets
0.03Suggestive
rectum cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
gastric carcinomaOpen Targets
0.02Suggestive
metopic craniosynostosisOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLEKHG4Shared pathway67%ARHGEF40Shared pathway67%ARHGEF25Shared pathway67%UNC5DShared pathway50%TENM2Shared pathway40%CNTN5Shared pathway40%
Tissue Expression6 tissues
Brain
100%
Ovary
20%
Bone Marrow
20%
Lung
6%
Heart
2%
Liver
1%
Gene Interaction Network
Click a node to explore
PLEKHG4BPLEKHG4ARHGEF40ARHGEF25UNC5DTENM2CNTN5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96PX9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.83–1.15]
RankingsWhere PLEKHG4B stands among ~20K protein-coding genes
  • #15,959of 20,598
    Most Researched14
  • #11,942of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedPLEKHG4B
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Recurrence-Associated Multi-RNA Signature to Predict Disease-Free Survival for Ovarian Cancer Patients.
PMID: 32149080
Biomed Res Int · 2020
1.00
2
Recurrent HBV Integration Targets as Potential Drivers in Hepatocellular Carcinoma.
PMID: 34071075
Cells · 2021
0.89
3
Heritability and genetic association analysis of neuroimaging measures in the Diabetes Heart Study.
PMID: 25523635
Neurobiol Aging · 2015
0.78
4
Circ_0008043 promotes the metastasis of hepatocellular carcinoma by regulating the miR-661/PLEKHG4B axis.
PMID: 40628993
Sci Rep · 2025
0.67
5
The Influence of Race/Ethnicity on the Transcriptomic Landscape of Uterine Fibroids.
PMID: 37686244
Int J Mol Sci · 2023
0.56