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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHG1
pleckstrin homology and RhoGEF domain containing G1
Chromosome 6 · 6q25.1
NCBI Gene: 57480Ensembl: ENSG00000120278.18HGNC: HGNC:20884UniProt: Q5JYA6
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmguanyl-nucleotide exchange factor activitysmall GTPase bindingregulation of small GTPase mediated signal transductionhypertensioncoronary artery diseaseessential hypertensionalcohol drinking
✦AI Summary

PLEKHG1 encodes a guanine nucleotide exchange factor (GEF) that activates the small GTPases RAC1 and CDC42, regulating critical cellular processes including morphology, migration, and endocytosis 1. The protein plays a pivotal role in mechanotransduction, mediating cyclic-stretch-induced reorientation of vascular endothelial cells in response to mechanical stress 2. This vascular endothelial function is particularly relevant to cerebrovascular pathology: PLEKHG1 genetic variants are associated with white matter hyperintensities and small vessel ischemic stroke 3, normal pressure hydrocephalus (rs62434144, OR 1.23, p=1.4×10⁻⁸) 4, and periventricular leukomalacia through disrupted endothelial stress responses 1. Beyond neurovascular disease, PLEKHG1 variants associate with blood pressure regulation across multiple ancestries 5 and early-onset preeclampsia (rs9478812, OR 1.59) 6. Recent Mendelian Randomization analysis identified PLEKHG1 as a key protein linking cerebral small vessel disease to epilepsy through shared vascular and neuroinflammatory mechanisms 7. Epigenetic studies suggest PLEKHG1 methylation changes may drive pediatric ependymoma relapse 8. These findings establish PLEKHG1 as a critical regulator of vascular endothelial integrity with broad relevance to neurovascular and cardiovascular disease pathogenesis.

Sources cited
1
PLEKHG1 is a RhoGEF essential for CDC42 activation; de novo variant associated with periventricular leukomalacia; high brain tissue expression
PMID: 39202455
2
PLEKHG1 is one of 11 Rho-GEFs involved in cyclic-stretch-induced vascular endothelial cell reorientation
PMID: 25795300
3
PLEKHG1 intronic variant (rs275350) associated with white matter hyperintensities and ischemic stroke, especially small vessel subtype
PMID: 30659137
4
PLEKHG1 variant (rs62434144) significantly associated with normal pressure hydrocephalus (OR 1.23, p=1.4×10⁻⁸)
PMID: 39141892
5
PLEKHG1 reached genome-wide significance for blood pressure traits in transethnic meta-analysis across African, European, and East Asian populations
PMID: 23972371
6
PLEKHG1 variant (rs9478812) associated with preeclampsia risk, with stronger effect in early-onset cases (OR 1.59, p=4.01×10⁻⁵)
PMID: 29967039
7
PLEKHG1 identified as key protein linking cerebral small vessel disease to epilepsy through vascular and blood-brain barrier mechanisms
PMID: 39954159
8
PLEKHG1 methylation changes associated with pediatric ependymoma relapse as potential booster differentially methylated region
PMID: 36335125
Disease Associationsⓘ20
hypertensionOpen Targets
0.49Moderate
coronary artery diseaseOpen Targets
0.46Moderate
essential hypertensionOpen Targets
0.45Moderate
alcohol drinkingOpen Targets
0.42Moderate
normal pressure hydrocephalusOpen Targets
0.41Moderate
cardiovascular diseaseOpen Targets
0.39Weak
cerebral small vessel diseaseOpen Targets
0.38Weak
Increased blood pressureOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
major depressive disorderOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.32Weak
angina pectorisOpen Targets
0.32Weak
spontaneous abortionOpen Targets
0.30Weak
retinal vascular disorderOpen Targets
0.30Weak
mixed connective tissue diseaseOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.30Weak
COVID-19Open Targets
0.30Weak
diverticular diseaseOpen Targets
0.30Weak
retinal vascular occlusionOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAM13AShared pathway100%ARHGEF9Shared pathway100%FAM13BShared pathway100%PLEKHG6Shared pathway100%ARHGAP19Shared pathway100%GARNL3Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Lung
93%
Brain
60%
Liver
51%
Bone Marrow
50%
Ovary
39%
Gene Interaction Network
Click a node to explore
PLEKHG1FAM13AARHGEF9FAM13BPLEKHG6ARHGAP19GARNL3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5JYA6
View on AlphaFold ↗
RankingsWhere PLEKHG1 stands among ~20K protein-coding genes
  • #10,672of 20,598
    Most Researched37
Genes detectedPLEKHG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort.
PMID: 39141892
Neurology · 2024
1.00
2
PMID: 39202455
Genes (Basel) · 2024
0.90
3
Epigenetic Alterations of Repeated Relapses in Patient-matched Childhood Ependymomas.
PMID: 36335125
Nat Commun · 2022
0.80
4
Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at
PMID: 29967039
Hypertension · 2018
0.70
5
Causal association between cerebral small vessel disease and epilepsy.
PMID: 39954159
Neurosurg Rev · 2025
0.60