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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGAP20
Rho GTPase activating protein 20
Chromosome 11 · 11q22.3-q23.1
NCBI Gene: 57569Ensembl: ENSG00000137727.13HGNC: HGNC:18357UniProt: Q9P2F6
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityregulation of small GTPase mediated signal transductioncytosolsignal transductionopen-angle glaucomaneurodegenerative diseasetype 1 diabetes mellitusAbnormality of limbs
✦AI Summary

ARHGAP20 encodes a Rho GTPase-activating protein that inactivates Rho-family GTPases by promoting their conversion to an inactive GDP-bound state 1. The protein functions as a negative regulator of small GTPase-mediated signal transduction and contains a conserved RhoGAP domain along with RA domain and Annexin-like repeats 2. ARHGAP20 is implicated in B-cell chr11 lymphocytic leukemia (B-CLL) pathogenesis. The gene is located within the minimally deleted region 11q22-23, which is frequently deleted in B-CLL and associated with poor survival 1. Gene disruption and altered regulation of ARHGAP20—rather than point mutations—appear to drive leukemogenesis; notably, ARHGAP20 shows counterintuitive upregulation in CLL cases with 11q22-23 deletions compared to cases without genetic lesions 3. This paradoxical expression pattern, also observed in cases with 13q14 deletions, suggests an intriguing compensatory regulatory mechanism 3. Beyond hematologic malignancies, ARHGAP20 has emerging relevance in other cancers. The gene was identified as a tumor microenvironment-related prognostic marker in rectal cancer, with protein-level differences between tumor and normal tissues 4. Additionally, ARHGAP20 phosphorylation shows sex-biased regulation in murine models 5, and the broader ARHGAP family represents cancer-associated genes where dysregulation promotes tumorigenesis through disrupted Rho/Rac/Cdc42 GTPase signaling 6.

Sources cited
1
ARHGAP20 encodes a protein involved in regulation of Rho family GTPases; gene disruption or altered expression (not point mutation) is a molecular mechanism in B-CLL leukemogenesis
PMID: 15543602
2
ARHGAP20 (KIAA1391) contains RA domain, RhoGAP domain, and Annexin-like repeats; located in 11q23.1 commonly deleted region
PMID: 14532992
3
ARHGAP20 shows counterintuitive higher expression in CLL cases with 11q22-23 deletions compared to cases without genetic lesions or trisomy 12; suggests unusual regulatory mechanism
PMID: 21500311
4
ARHGAP20 identified as tumor microenvironment-related prognostic gene in rectal cancer with protein-level differences between tumor and normal tissues
PMID: 33949771
5
ARHGAP20 phosphorylation shows sex-biased regulation in AC3 knockout mice
PMID: 30814930
6
ARHGAP family genes are cancer-associated; genetic alterations lead to carcinogenesis through dysregulation of Rho/Rac/Cdc42-like GTPases
PMID: 15492870
Disease Associationsⓘ20
open-angle glaucomaOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
type 1 diabetes mellitusOpen Targets
0.33Weak
Abnormality of limbsOpen Targets
0.32Weak
self-injurious ideationOpen Targets
0.32Weak
musculoskeletal system diseaseOpen Targets
0.31Weak
spondylolisthesisOpen Targets
0.31Weak
benign chondrogenic neoplasmOpen Targets
0.26Weak
respiratory system diseaseOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.17Weak
glomerulonephritisOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
Abruptio PlacentaeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
exostosisOpen Targets
0.04Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.03Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TAGAPShared pathway100%RHOAProtein interaction97%BRWD3Protein interaction96%ARHGEF28Shared pathway50%GARNL3Shared pathway50%PLEKHG1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Lung
84%
Ovary
50%
Liver
46%
Heart
12%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
ARHGAP20TAGAPRHOABRWD3ARHGEF28GARNL3PLEKHG1
PROTEIN STRUCTURE
Preparing viewer…
PDB3MSX · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.44 [0.32–0.61]
RankingsWhere ARHGAP20 stands among ~20K protein-coding genes
  • #13,603of 20,598
    Most Researched22
  • #4,269of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedARHGAP20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes.
PMID: 15543602
Genes Chromosomes Cancer · 2005
1.00
2
Identification and characterization of human FOXN5 and rat Foxn5 genes in silico.
PMID: 15067358
Int J Oncol · 2004
0.90
3
Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20.
PMID: 21500311
Genes Chromosomes Cancer · 2011
0.80
4
Identification and characterization of ARHGAP27 gene in silico.
PMID: 15492870
Int J Mol Med · 2004
0.70
5
Characterization of human ARHGAP10 gene in silico.
PMID: 15375573
Int J Oncol · 2004
0.60