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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARHGAP4
Rho GTPase activating protein 4
Chromosome X · Xq28
NCBI Gene: 393Ensembl: ENSG00000089820.18HGNC: HGNC:674UniProt: P98171
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmcytosolregulation of synapse assemblyneurodegenerative diseasenephrogenic diabetes insipiduscolorectal carcinomasystemic lupus erythematosus
✦AI Summary

ARHGAP4 is a Rho GTPase-activating protein that negatively regulates Rho family GTPases and inhibits stress fiber organization 1. Mechanistically, ARHGAP4 forms a complex with septin proteins (SEPT2/SEPT9) via its Rho-GAP and SH3 domains to modulate integrin-mediated focal adhesions and cytoskeletal reorganization 2. The protein also functions by binding p53 to inhibit DRAM1 signaling 1. ARHGAP4 has emerged as a critical oncogenic driver across multiple cancer types. In acute myeloid leukemia, ARHGAP4 overexpression promotes leukemogenesis and predicts poor prognosis, with knockdown inducing apoptosis and impairing tumor progression 1. In colon cancer, elevated ARHGAP4 promotes metastasis through TGF-β/Smad signaling and correlates with T cell exhaustion markers and reduced overall survival 34. Similarly, ARHGAP4 overexpression in gastric scirrhous-type cancer independently predicts poor prognosis and recurrence 5. Additionally, ARHGAP4 was identified as a co-diagnostic biomarker in both Alzheimer's disease and metabolic syndrome 6, while ARHGAP4 deletions cause intellectual disability and nephrogenic diabetes insipidus in males 7. Clinically, ARHGAP4 represents a promising therapeutic target and prognostic biomarker for cancer stratification and treatment selection.

Sources cited
1
ARHGAP4 is overexpressed in AML, promotes leukemogenesis by inhibiting DRAM1 signaling, and its knockdown induces apoptosis
PMID: 37443303
2
ARHGAP4 forms a complex with SEPT2/SEPT9 to modulate integrin-mediated focal adhesions and cell migration
PMID: 34524873
3
ARHGAP4 promotes colon cancer metastasis through TGF-β/Smad pathway and correlates with T cell exhaustion
PMID: 38805788
4
High ARHGAP4 expression is an independent predictor of poor overall survival after colon liver metastasis resection
PMID: 38821620
5
ARHGAP4 is overexpressed in gastric scirrhous-type cancer and independently predicts poor prognosis
PMID: 36288877
6
ARHGAP4 was identified as a co-diagnostic gene for both Alzheimer's disease and metabolic syndrome
PMID: 36405716
7
ARHGAP4 deletions cause intellectual disability and nephrogenic diabetes insipidus in males
PMID: 22965914
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
nephrogenic diabetes insipidusOpen Targets
0.34Weak
colorectal carcinomaOpen Targets
0.09Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
poliovirus infectionOpen Targets
0.06Suggestive
Sleep DisorderOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
sleep apneaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
lobular neoplasiaOpen Targets
0.04Suggestive
hereditary angioedemaOpen Targets
0.03Suggestive
skin squamous cell carcinomaOpen Targets
0.03Suggestive
nervous system diseaseOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
angioedemaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AVPR2Protein interaction88%WASProtein interaction72%SRGAP3Shared pathway50%SRGAP2BShared pathway38%SRGAP1Shared pathway38%SRGAP2CShared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
41%
Liver
9%
Ovary
5%
Heart
4%
Brain
3%
Gene Interaction Network
Click a node to explore
ARHGAP4AVPR2WASSRGAP3SRGAP2BSRGAP1SRGAP2C
PROTEIN STRUCTURE
Preparing viewer…
PDB2EPD · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.92Intolerant
Observed/Expected LoF0.37 [0.27–0.52]
RankingsWhere ARHGAP4 stands among ~20K protein-coding genes
  • #8,769of 20,598
    Most Researched50
  • #3,175of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedARHGAP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of diagnostic genes for both Alzheimer's disease and Metabolic syndrome by the machine learning algorithm.
PMID: 36405716
Front Immunol · 2022
1.00
2
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
PMID: 22965914
Am J Med Genet A · 2012
0.90
3
ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling.
PMID: 37443303
Oncogene · 2023
0.80
4
ARHGAP4-SEPT2-SEPT9 complex enables both up- and down-modulation of integrin-mediated focal adhesions, cell migration, and invasion.
PMID: 34524873
Mol Biol Cell · 2021
0.70
5
Candidate Oncogenes,
PMID: 36288877
Anticancer Res · 2022
0.60