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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHG2
pleckstrin homology and RhoGEF domain containing G2
Chromosome 19 · 19q13.2
NCBI Gene: 64857Ensembl: ENSG00000090924.15HGNC: HGNC:29515UniProt: E7ESZ3
33PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of actin filament polymerizationguanyl-nucleotide exchange factor activitysmall GTPase bindingleukodystrophy and acquired microcephaly with or without dystonia;Abnormal brain morphologymicrocephalynon-small cell lung carcinoma
✦AI Summary

PLEKHG2 is a Rho guanine nucleotide exchange factor (GEF) that primarily functions as an activator of small GTPases Rac1, Rac3, and Cdc42 1. It belongs to the Dbl family of RhoGEFs and contains both pleckstrin homology and RhoGEF domains 2. Mechanistically, PLEKHG2 is activated by binding heterotrimeric G protein βγ subunits at its N-terminus, which relieves autoinhibition to expose the catalytic Dbl homology domain 3. This activation promotes actin polymerization and cytoskeletal reorganization 4. PLEKHG2 activity is negatively regulated by Gαs subunit binding, which directly masks the functional DH domain 5. The protein also interacts with regulatory partners including FHL1A isoform, which specifically enhances PLEKHG2-dependent transcription 6, and ABL1 kinase, which suppresses cell growth through NF-κB signaling 7. Clinically, PLEKHG2 mutations cause neurodevelopmental disorders. Homozygous p.Arg204Trp variants associate with microcephaly and intellectual disability 1. Loss of PLEKHG2 function impairs dendritic arbor formation, axon pathfinding, and dendritic spine morphogenesis during cortical development 1. PLEKHG2 variants also contribute to leukodystrophy pathogenesis 8, suggesting essential roles in white matter development. These findings establish PLEKHG2 as critical for neuronal maturation and proper brain development.

Sources cited
1
PLEKHG2 mutations cause microcephaly with intellectual disability; p.Arg204Trp variant impairs Rac/Cdc42 GEF activity and dendritic arbor, axon, and spine development
PMID: 35203342
2
PLEKHG2 is a Dbl family RhoGEF that regulates Rho GTPases and is involved in neural development and disorders
PMID: 40313131
3
PLEKHG2 is a Gβγ-dependent GEF for Rac and Cdc42 that regulates lymphocyte migration and actin polymerization; Gβγ activation works by relieving autoinhibition
PMID: 24001768
4
FHL1A interacts with PLEKHG2 and enhances Gβγ-stimulated SRE-dependent gene transcription and cell morphological changes
PMID: 27765816
5
Gαs subunit negatively regulates PLEKHG2 by direct binding that masks the DH domain
PMID: 28108261
6
FHL1A specifically regulates PLEKHG2 activity and enhances Gβγ-induced SRE-dependent gene transcription
PMID: 28489964
7
PLEKHG2 interacts with ABL1 kinase to suppress cell growth through NF-κB signaling pathway
PMID: 31100317
8
PLEKHG2 variants are associated with leukodystrophy in patient cohorts
PMID: 40594583
Disease Associationsⓘ21
leukodystrophy and acquired microcephaly with or without dystonia;Open Targets
0.69Moderate
Abnormal brain morphologyOpen Targets
0.27Weak
microcephalyOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.07Suggestive
osteosarcomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
fever of unknown originOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.03Suggestive
nasopharyngeal carcinomaOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
DystoniaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
familial nephrotic syndromeOpen Targets
0.01Suggestive
myeloid leukemiaOpen Targets
0.01Suggestive
Leukodystrophy and acquired microcephaly with or without dystoniaUniProt
Pathogenic Variants1
NM_022835.3(PLEKHG2):c.1270C>T (p.Gln424Ter)Likely pathogenic
Leukodystrophy and acquired microcephaly with or without dystonia;
★☆☆☆→ Residue 424
View on ClinVar ↗
Related Genes
COTL1Shared pathway100%RHOAProtein interaction87%CDC42Protein interaction78%ARHGAP40Shared pathway50%CYRIAShared pathway50%ARPC5LShared pathway33%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
65%
Ovary
51%
Heart
30%
Brain
16%
Liver
15%
Gene Interaction Network
Click a node to explore
PLEKHG2COTL1RHOACDC42ARHGAP40CYRIAARPC5L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H7P9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.59–0.86]
RankingsWhere PLEKHG2 stands among ~20K protein-coding genes
  • #11,387of 20,598
    Most Researched33
  • #5,237of 5,498
    Most Pathogenic Variants1
  • #7,573of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedPLEKHG2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Specific activation of PLEKHG2-induced serum response element-dependent gene transcription by four-and-a-half LIM domains (FHL) 1, but not FHL2 or FHL3.
PMID: 28489964
Small GTPases · 2019
1.00
2
PLEKHG2 and the PLEKHG family: Linking Rho family GTPases to neural development and disorders.
PMID: 40313131
Histol Histopathol · 2025
0.90
3
Four-and-a-half LIM Domains 1 (FHL1) Protein Interacts with the Rho Guanine Nucleotide Exchange Factor PLEKHG2/FLJ00018 and Regulates Cell Morphogenesis.
PMID: 27765816
J Biol Chem · 2016
0.80
4
Impaired Function of PLEKHG2, a Rho-Guanine Nucleotide-Exchange Factor, Disrupts Corticogenesis in Neurodevelopmental Phenotypes.
PMID: 35203342
Cells · 2022
0.70
5
The interaction between PLEKHG2 and ABL1 suppresses cell growth via the NF-κB signaling pathway in HEK293 cells.
PMID: 31100317
Cell Signal · 2019
0.60