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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARHGAP40
Rho GTPase activating protein 40
Chromosome 20 Β· 20q11.23
NCBI Gene: 343578Ensembl: ENSG00000124143.12HGNC: HGNC:16226UniProt: Q5TG30
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of small GTPase mediated signal transductionregulation of actin filament polymerizationGTPase activator activitycytoplasmAbnormal deliveryurinary tract obstructionesophageal squamous cell carcinomaBenign Ovarian Neoplasm
✦AI Summary

ARHGAP40 is a Rho GTPase-activating protein (RhoGAP) that functions as a GTPase activator, converting Rho-type GTPases to their inactive GDP-bound state and thereby regulating actin filament polymerization and small GTPase-mediated signaling in the cytoplasm 1. In normal tissues, ARHGAP40 is robustly expressed in basal cells and benign skin lesions 1, as well as in normal fallopian tubes and benign ovarian tumors 2. However, ARHGAP40 expression is frequently lost in multiple cancer types through an epigenetic mechanism involving CpG island hypermethylation of its promoter region 12. ARHGAP40 downregulation occurs in 93.8% of high-grade serous ovarian carcinomas 2, breast tumors from ATM pathogenic variant carriers 3, and basal cell carcinomas 1, with promoter methylation showing strong inverse correlation with protein expression 2. Clinically, methylated ARHGAP40 circulating tumor DNA was detected in 80% of high-grade serous ovarian cancer patients' plasma but absent in controls, suggesting potential utility as a noninvasive biomarker for early cancer diagnosis and monitoring 2. ARHGAP40 may also serve as a biomarker to distinguish basal cell carcinoma from benign skin lesions 1.

Sources cited
1
ARHGAP40 is a RhoGAP that is expressed in normal basal cells and benign skin lesions but lost in basal cell carcinomas due to CpG island promoter hypermethylation
PMID: 37822129
2
ARHGAP40 is absent/weakly expressed in 93.8% of high-grade serous ovarian carcinomas but robustly expressed in normal tissues; promoter hypermethylation inversely correlates with protein expression; methylated ARHGAP40 ctDNA detected in 80% of HGSC patient plasma as potential biomarker
PMID: 40605010
3
ARHGAP40 promoter is hypermethylated in breast tumors from ATM pathogenic variant carriers with associated lower gene expression
PMID: 40069712
4
ARHGAP40 is identified as playing an important role in regulating immune function and reproductive traits in animal studies
PMID: 36288637
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormal deliveryOpen Targets
0.19Weak
urinary tract obstructionOpen Targets
0.14Weak
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
Benign Ovarian NeoplasmOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.02Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
basal cell carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
ovarian serous adenocarcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
skin basal cell carcinomaOpen Targets
0.01Suggestive
gestational diabetesOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
serous adenocarcinomaOpen Targets
0.01Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
central nervous system cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ARHGAP28Shared pathway67%COTL1Shared pathway50%PLEKHG2Shared pathway50%ARHGAP19Shared pathway50%GARNL3Shared pathway50%ARHGAP23Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Liver
18%
Brain
11%
Bone Marrow
9%
Ovary
4%
Heart
0%
Gene Interaction Network
Click a node to explore
ARHGAP40ARHGAP28COTL1PLEKHG2ARHGAP19GARNL3ARHGAP23
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5TG30
View on AlphaFold β†—
RankingsWhere ARHGAP40 stands among ~20K protein-coding genes
  • #18,020of 20,598
    Most Researched6
Genes detectedARHGAP40
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
PMID: 40069712
Breast Cancer Res Β· 2025
1.00
2
Methylated ARHGAP40 DNA as a potential biomarker for early diagnosis in high-grade ovarian serous cancer.
PMID: 40605010
J Ovarian Res Β· 2025
0.75
3
Loss of ARHGAP40 expression in basal cell carcinoma via CpG island hypermethylation.
PMID: 37822129
Exp Dermatol Β· 2023
0.50
4
Transcriptional analyses provide novel insights into the transgenerational effects of Poly (I:C) on chickens.
PMID: 36288637
Ecotoxicol Environ Saf Β· 2022
0.25