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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ARHGAP32
Rho GTPase activating protein 32
Chromosome 11 Β· 11q24.3
NCBI Gene: 9743Ensembl: ENSG00000134909.19HGNC: HGNC:17399UniProt: A0A804HK06
75PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi apparatusprotein bindingcytosolGTPase activator activityAbnormality of refractionbrain aneurysmosteoarthritisGlobal developmental delay
✦AI Summary

ARHGAP32 is a Rho GTPase-activating protein that negatively regulates small GTPases including RhoA, Cdc42, and Rac1 1. The protein localizes to multiple cellular compartments including the cytosol, Golgi apparatus, and postsynaptic density, where it regulates actin dynamics and dendritic spine morphogenesis 2. A key functional feature is its G-actin-binding RPEL motif, which provides negative feedback coupling Rac/Cdc42 activity to actin availability 2. ARHGAP32 is enriched in desmosomal structures through interaction with desmoplakin, where it regulates F-actin organization and epithelial cell sheet integrity by suppressing ROCK-dependent actomyosin contractility 1. Pathologically, de novo loss-of-function mutations in ARHGAP32 are associated with autism spectrum disorder 3, while a gain-of-function L754V mutation causes focal segmental glomerulosclerosis by inducing podocyte damage through altered Cdc42 binding affinity 4. ARHGAP32 dysregulation also contributes to neurodegenerative diseases, with aberrant cryptic splicing of ARHGAP32 identified as a biomarker in TDP-43 proteinopathies 5. Additionally, dysregulation of circular ARHGAP32 promotes atherosclerosis through miR-665-dependent signaling 6.

Sources cited
1
De novo mutations in ARHGAP32 identified in autism spectrum disorder patients
PMID: 27824329
2
ARHGAP32 interacts with desmoplakin and regulates desmosomal organization and F-actin dynamics
PMID: 39258310
3
ARHGAP32 shows cryptic splicing dysregulation in FTLD-TDP brains as a potential biomarker
PMID: 40478310
4
ARHGAP32 L754V mutation causes focal segmental glomerulosclerosis through enhanced Cdc42 binding
PMID: 40231370
5
ARHGAP32 is an RPEL-family RhoGAP with G-actin-binding ability that regulates Rac/Cdc42 activity
PMID: 31209295
6
Circular ARHGAP32 promotes atherosclerosis via miR-665/FGF2 signaling in vascular smooth muscle cells
PMID: 35662113
7
ARHGAP32 identified as differentially expressed gene with functional relationship to BCL2 and MMP9 in Alzheimer's disease
PMID: 34808269
Disease Associationsβ“˜20
Abnormality of refractionOpen Targets
0.29Weak
brain aneurysmOpen Targets
0.28Weak
osteoarthritisOpen Targets
0.27Weak
Global developmental delayOpen Targets
0.27Weak
self-injurious ideationOpen Targets
0.26Weak
celiac diseaseOpen Targets
0.25Weak
atrial fibrillationOpen Targets
0.23Weak
Abnormality of the integumentOpen Targets
0.12Weak
ependymomaOpen Targets
0.11Weak
behavioral variant of frontotemporal dementiaOpen Targets
0.05Suggestive
childhood disintegrative disorderOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.04Suggestive
15q11q13 microduplication syndromeOpen Targets
0.04Suggestive
autismOpen Targets
0.04Suggestive
developmental and epileptic encephalopathy, 9Open Targets
0.04Suggestive
Pick diseaseOpen Targets
0.04Suggestive
intellectual developmental disorder with paroxysmal dyskinesia or seizuresOpen Targets
0.04Suggestive
amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
frontotemporal dementiaOpen Targets
0.04Suggestive
early-onset autosomal dominant Alzheimer diseaseOpen Targets
0.04Suggestive
Pathogenic Variants2
NM_001378024.1(ARHGAP32):c.1583C>G (p.Thr528Arg)Pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 528
NM_001378024.1(ARHGAP32):c.610C>T (p.Arg204Ter)Likely pathogenic
Global developmental delay
β˜…β˜†β˜†β˜†2025β†’ Residue 204
View on ClinVar β†—
Related Genes
CDC42Protein interaction93%RAC1Protein interaction82%RHOAProtein interaction81%ARHGAP33Shared pathway75%ARHGAP9Shared pathway50%ARHGAP31Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
43%
Bone Marrow
31%
Liver
23%
Lung
16%
Heart
15%
Gene Interaction Network
Click a node to explore
ARHGAP32CDC42RAC1RHOAARHGAP33ARHGAP9ARHGAP31
PROTEIN STRUCTURE
Preparing viewer…
PDB3IUG Β· 1.77 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.35Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.27 [0.21–0.35]
RankingsWhere ARHGAP32 stands among ~20K protein-coding genes
  • #6,308of 20,598
    Most Researched75
  • #4,368of 5,498
    Most Pathogenic Variants2
  • #1,535of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedARHGAP32
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID: 27824329
Nat Commun Β· 2016
1.00
2
The RhoGAP ARHGAP32 interacts with desmoplakin, and is required for desmosomal organization and assembly.
PMID: 39258310
J Cell Sci Β· 2024
0.90
3
Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing.
PMID: 40478310
Acta Neuropathol Β· 2025
0.80
4
Pathogenesis of Focal Segmental Glomerulosclerosis Caused by a Leu754Val Mutation in ARHGAP32.
PMID: 40231370
FASEB J Β· 2025
0.70
5
Exploring Candidate Gene Studies and Alexithymia: A Systematic Review.
PMID: 39202385
Genes (Basel) Β· 2024
0.60