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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHG6
pleckstrin homology and RhoGEF domain containing G6
Chromosome 12 · 12p13.31
NCBI Gene: 55200Ensembl: ENSG00000008323.16HGNC: HGNC:25562UniProt: A0A2X0TW08
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell junctionguanyl-nucleotide exchange factor activitycytosolneurodegenerative diseasecolorectal cancerbenign colon neoplasmcolorectal adenoma
✦AI Summary

PLEKHG6 is a guanine nucleotide exchange factor that activates the small GTPases RHOA and RHOG, playing crucial roles in cytoskeletal organization and cellular processes 1. The protein localizes to the apical pole of epithelial cells where it promotes the formation of microvilli and membrane ruffles through RhoG activation 1. PLEKHG6 functions as part of a complex with ezrin and is essential for macropinocytosis, as demonstrated by reduced dextran uptake when either PLEKHG6 or ezrin expression is downregulated 1. In neuronal development, a primate-specific isoform of PLEKHG6 regulates neuroprogenitor differentiation and neuronal migration via RhoA signaling, with variants associated with periventricular nodular heterotopia 2. The gene shows clinical relevance across multiple diseases, functioning as a putative tumor suppressor in colorectal cancer where it is co-activated by super-enhancer polymorphisms 3. PLEKHG6 expression correlates with favorable prognosis in bladder cancer and serves as a biomarker in ulcerative colitis with strong correlations to immune cell infiltration 45. Additionally, PLEKHG6 methylation patterns are affected by maternal circadian disruption, potentially impacting fetal development 6.

Sources cited
1
PLEKHG6 is a RhoGEF that activates RhoG and promotes microvillar formation and macropinocytosis in epithelial cells
PMID: 17881735
2
Primate-specific PLEKHG6 isoform regulates neurogenesis and neuronal migration via RhoA, with variants causing periventricular nodular heterotopia
PMID: 30517861
3
PLEKHG6 functions as a tumor suppressor in colorectal cancer, co-activated by super-enhancer polymorphisms
PMID: 31988071
4
PLEKHG6 expression correlates with DAPK1 and favorable prognosis in bladder cancer
PMID: 28388658
5
PLEKHG6 serves as a diagnostic biomarker in ulcerative colitis with strong immune infiltration correlations
PMID: 39915583
6
PLEKHG6 methylation is affected by maternal night shift work, suggesting epigenetic impacts on fetal development
PMID: 31026301
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
colorectal cancerOpen Targets
0.36Weak
benign colon neoplasmOpen Targets
0.34Weak
colorectal adenomaOpen Targets
0.25Weak
brain cancerOpen Targets
0.21Weak
nervous system cancerOpen Targets
0.21Weak
viral pneumoniaOpen Targets
0.21Weak
polyp of colonOpen Targets
0.21Weak
lung cancerOpen Targets
0.19Weak
TNF receptor 1-associated periodic fever syndromeOpen Targets
0.12Weak
Tumor necrosis factor receptor 1 associated periodic syndromeOpen Targets
0.12Weak
ArthralgiaOpen Targets
0.11Weak
melanomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
multiple sclerosisOpen Targets
0.06Suggestive
primary biliary cirrhosisOpen Targets
0.05Suggestive
pancreatic adenocarcinomaOpen Targets
0.03Suggestive
biliary liver cirrhosisOpen Targets
0.03Suggestive
poisoningOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAM13AShared pathway100%ARHGEF9Shared pathway100%FAM13BShared pathway100%ARHGAP19Shared pathway100%GARNL3Shared pathway100%ARHGAP23Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
32%
Lung
30%
Brain
17%
Heart
7%
Ovary
5%
Gene Interaction Network
Click a node to explore
PLEKHG6FAM13AARHGEF9FAM13BARHGAP19GARNL3ARHGAP23
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q3KR16
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.82–1.18]
RankingsWhere PLEKHG6 stands among ~20K protein-coding genes
  • #13,276of 20,598
    Most Researched24
  • #12,347of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedPLEKHG6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The prognostic significance of DAPK1 in bladder cancer.
PMID: 28388658
PLoS One · 2017
1.00
2
Genetic Predisposition to Colon and Rectal Adenocarcinoma Is Mediated by a Super-enhancer Polymorphism Coactivating
PMID: 31988071
Cancer Epidemiol Biomarkers Prev · 2020
0.90
3
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
PMID: 30517861
Cell Rep · 2018
0.80
4
Identification of the immune infiltration and biomarkers in ulcerative colitis based on liquid-liquid phase separation-related genes.
PMID: 39915583
Sci Rep · 2025
0.70
5
Maternal circadian disruption is associated with variation in placental DNA methylation.
PMID: 31026301
PLoS One · 2019
0.60