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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGEF4
Rho guanine nucleotide exchange factor 4
Chromosome 2 · 2q21.1
NCBI Gene: 50649Ensembl: ENSG00000136002.21HGNC: HGNC:684UniProt: E7EV07
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingprotein domain specific bindinglamellipodium assemblyhematologic diseasepulmonary edemaliver diseaseacute tonsillitis
✦AI Summary

ARHGEF4 (Rho guanine nucleotide exchange factor 4) is a brain-enriched guanine nucleotide exchange factor that activates small GTPases including Rac1 and Cdc42 12. The protein regulates actin cytoskeleton reorganization and cellular morphology, controlling the formation of membrane protrusions, filopodia, and podosomes in various cell types 23. ARHGEF4 functions through ERK1/2 and GSK-3α/β signaling pathways to promote cell motility and invasion 2. In hepatic stellate cells, ARHGEF4 specifically mediates actin cytoskeleton reorganization in 3D collagen matrices, promoting podosome-related gene expression 3. The gene is clinically significant in multiple contexts: high ARHGEF4 expression correlates with poor prognosis and increased invasiveness in pancreatic cancer 2, serves as a biomarker for progressive primary open-angle glaucoma 4, and is involved in cisplatin resistance in lung cancer 5. Genomic deletions affecting ARHGEF4 are associated with neurodevelopmental disorders including ADHD, intellectual disability, and epilepsy 6. Additionally, ARHGEF4 methylation patterns are altered in maternal asthma and serve as tumor purity markers in esophageal cancer 78.

Sources cited
1
ARHGEF4 is brain-enriched and shows homology to collybistin
PMID: 10873612
2
ARHGEF4 is specific for Rac1 and Cdc42, promotes cell invasion through ERK1/2 and GSK-3α/β signaling, and correlates with poor prognosis in pancreatic cancer
PMID: 30226582
3
ARHGEF4 mediates actin cytoskeleton reorganization and podosome formation in hepatic stellate cells in 3D collagen matrices
PMID: 30871422
4
ARHGEF4 serves as a biomarker for progressive primary open-angle glaucoma
PMID: 35278478
5
Deletions affecting ARHGEF4 are associated with neurodevelopmental disorders including ADHD, intellectual disability, and epilepsy
PMID: 22543972
6
ARHGEF4 methylation is altered in maternal asthma
PMID: 35858526
7
ARHGEF4 expression is altered in cisplatin-resistant lung cancer cells
PMID: 35690284
8
ARHGEF4 methylation serves as a tumor purity marker in esophageal cancer
PMID: 24312652
Disease Associationsⓘ20
hematologic diseaseOpen Targets
0.34Weak
pulmonary edemaOpen Targets
0.29Weak
liver diseaseOpen Targets
0.26Weak
acute tonsillitisOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.17Weak
polycythemiaOpen Targets
0.17Weak
Premature atrial contractionsOpen Targets
0.17Weak
placenta praeviaOpen Targets
0.17Weak
neoplasmOpen Targets
0.04Suggestive
colorectal neoplasmOpen Targets
0.03Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
medulloblastomaOpen Targets
0.02Suggestive
acute lymphoblastic leukemiaOpen Targets
0.02Suggestive
adenomaOpen Targets
0.01Suggestive
large cell medulloblastomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APCProtein interaction100%APC2Protein interaction100%KIFAP3Protein interaction100%IQGAP1Protein interaction98%CDC42Protein interaction94%RAC2Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Ovary
53%
Heart
13%
Lung
10%
Liver
4%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
ARHGEF4APCAPC2KIFAP3IQGAP1CDC42RAC2
PROTEIN STRUCTURE
Preparing viewer…
PDB2PZ1 · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.65–0.88]
RankingsWhere ARHGEF4 stands among ~20K protein-coding genes
  • #9,835of 20,598
    Most Researched42
  • #7,883of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedARHGEF4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22.
PMID: 10873612
Biochem Biophys Res Commun · 2000
1.00
2
ARHGEF4 predicts poor prognosis and promotes cell invasion by influencing ERK1/2 and GSK-3α/β signaling in pancreatic cancer.
PMID: 30226582
Int J Oncol · 2018
0.90
3
Biomarkers for primary open-angle glaucoma progression.
PMID: 35278478
Exp Eye Res · 2022
0.80
4
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
PMID: 22543972
Hum Mol Genet · 2012
0.70
5
Associations between antenatal maternal asthma status and placental DNA methylation.
PMID: 35858526
Placenta · 2022
0.60