HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARHGAP22
Rho GTPase activating protein 22
Chromosome 10 · 10q11.22-q11.23
NCBI Gene: 58504Ensembl: ENSG00000128805.16HGNC: HGNC:30320UniProt: A0A2X0SFC0
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranefocal adhesionglutamatergic synapseneurodegenerative diseasetype 2 diabetes mellitusdiabetes mellitushidradenitis
✦AI Summary

ARHGAP22 is a Rho GTPase-activating protein that functions as a Rac1-specific GAP, converting active GTP-bound Rac to its inactive GDP-bound state 1. Unlike related family members, ARHGAP22 localizes predominantly at endosomes rather than lamellae, where it is transported to the plasma membrane via Rab11-dependent endosomal recycling to inactivate Rac and suppress lamellipodia formation and cell spreading 12. The protein contains an N-terminal pleckstrin homology (PH) domain required for both Rac-GAP activity and plasma membrane localization, and a C-terminal region critical for endosomal targeting 32. ARHGAP22 regulates actin cytoskeleton dynamics by inhibiting Rac-dependent cell morphology changes 1. Disease relevance includes associations with invasive melanoma, where hypermethylation of ARHGAP22 characterizes invasive cells and metastatic samples 4. Genetic variants in ARHGAP22 are associated with type 2 diabetes risk and progression, with the rs3844492 G allele linked to diabetic kidney disease, decreased glomerular filtration rate, and elevated creatinine 56. Additionally, rs76208937 shows suggestive association with anti-MDA5-positive dermatomyositis susceptibility 7. These findings indicate ARHGAP22's roles in cell motility control and metabolic disease pathogenesis.

Sources cited
1
ARHGAP22 localizes at endosomes and acts as a Rac-specific GAP that suppresses Rac-dependent lamellae formation and cell spreading
PMID: 24933155
2
Endosomal localization via Rab11-dependent recycling pathway regulates ARHGAP22 GAP activity; PH domain required for plasma membrane localization and activity
PMID: 36456117
3
ARHGAP22 contains N-terminal PH domain and RhoGAP domain; PH domain necessary for protein interactions
PMID: 22952583
4
Hypermethylation of ARHGAP22 characterizes invasive melanoma cells and metastasis samples
PMID: 36200505
5
ARHGAP22 rs4838605 polymorphism associated with type 2 diabetes risk; rs4838605 TT genotype correlated with elevated triglyceride levels
PMID: 27863428
6
rs3844492/ARHGAP22 G allele associated with diabetic kidney disease risk, decreased glomerular filtration rate, and elevated creatinine in type 2 diabetes
PMID: 40271977
7
ARHGAP22 rs76208937 SNP shows suggestive significance in association with anti-MDA5-positive dermatomyositis
PMID: 40246682
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
type 2 diabetes mellitusOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.30Weak
hidradenitisOpen Targets
0.30Weak
SplenomegalyOpen Targets
0.30Weak
joint diseaseOpen Targets
0.28Weak
diabetic retinopathyOpen Targets
0.28Weak
bilirubin metabolism diseaseOpen Targets
0.28Weak
ThyrotoxicosisOpen Targets
0.18Weak
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
22q11.2 deletion syndromeOpen Targets
0.04Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
intestinal hypomagnesemia 1Open Targets
0.04Suggestive
Primary hypomagnesemia with secondary hypocalcemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC42Protein interaction96%ARHGAP45Shared pathway67%ARHGAP29Shared pathway50%ARHGAP25Shared pathway40%GMIPShared pathway40%TANC1Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Brain
98%
Bone Marrow
70%
Heart
59%
Lung
51%
Liver
35%
Gene Interaction Network
Click a node to explore
ARHGAP22CDC42ARHGAP45ARHGAP29ARHGAP25GMIPTANC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z5H3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.72–1.14]
RankingsWhere ARHGAP22 stands among ~20K protein-coding genes
  • #11,111of 20,598
    Most Researched34
  • #11,853of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedARHGAP22
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ARHGAP22 localizes at endosomes and regulates actin cytoskeleton.
PMID: 24933155
PLoS One · 2014
1.00
2
Endosomal Localization of RacGAP Protein ARHGAP22 Regulates its GAP Activity in Human Melanoma Cells.
PMID: 36456117
Anticancer Res · 2022
0.90
3
The Prospective Registry of MyositIS (PROMIS): I. Next-generation sequencing identifies HLA-DQA1 as a novel genetic risk of anti-MDA5 antibody-positive dermatomyositis.
PMID: 40246682
Ann Rheum Dis · 2025
0.80
4
Parallel molecular alteration between Alzheimer's disease and major depressive disorder in the human brain dorsolateral prefrontal cortex: an insight from gene expression and methylation profile analyses.
PMID: 36928034
Genes Genet Syst · 2023
0.70
5
Impact of diabetes-related gene polymorphisms on the clinical characteristics of type 2 diabetes Chinese Han population.
PMID: 27863428
Oncotarget · 2016
0.60