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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGEF40
Rho guanine nucleotide exchange factor 40
Chromosome 14 · 14q11.2
NCBI Gene: 55701Ensembl: ENSG00000165801.11HGNC: HGNC:25516UniProt: Q8TER5
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityaxon guidancecytoplasmplasma membraneAbnormality of the skeletal systematrial fibrillationneurodegenerative diseaseneuroblastoma
✦AI Summary

ARHGEF40 (also known as SOLO) functions as a guanine nucleotide exchange factor (GEF) that specifically activates RhoA and RhoC small GTPases 1. The protein plays a crucial role in cytoskeletal organization by promoting actin stress fiber formation and force-induced stress fiber reinforcement through RhoA/ROCK signaling activation 1. ARHGEF40 directly binds to keratin-8/keratin-18 (K8/K18) intermediate filaments through multiple sites, and this interaction is essential for tensile force-induced RhoA activation and consequent actin cytoskeletal reinforcement 1. The protein's DH-PH domain is responsible for its interaction with RhoA, and deletion of this domain abolishes binding and blocks Wnt signaling activation 2. In disease contexts, ARHGEF40 has emerging clinical significance. It is overexpressed in non-small cell lung cancer, where it promotes proliferation and invasion via the AKT-Wnt axis 2. The gene has been identified as a novel susceptibility gene for hereditary melanoma 3 and is associated with lung function in Korean populations 4. Additionally, de novo missense variants at position p.Arg225 have been identified in individuals with multiple congenital anomalies and developmental delay, suggesting an autosomal dominant disease relationship 5.

Sources cited
1
ARHGEF40 acts as a GEF for RhoA/RhoC, binds K8/K18 filaments, and is essential for force-induced stress fiber reinforcement
PMID: 26823019
2
ARHGEF40 is overexpressed in NSCLC and promotes cancer progression via AKT-Wnt axis through RhoA interaction via DH-PH domain
PMID: 36000254
3
ARHGEF40 identified as novel susceptibility gene for hereditary melanoma
PMID: 32276436
4
ARHGEF40 variants associated with lung function in Korean population
PMID: 32336055
5
De novo variants at p.Arg225 associated with congenital anomalies and developmental delay
PMID: 39838643
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
atrial fibrillationOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.33Weak
neuroblastomaOpen Targets
0.33Weak
aortic valve diseaseOpen Targets
0.30Weak
developmental disabilityOpen Targets
0.18Weak
Familial prostate cancerOpen Targets
0.11Weak
myoepithelial tumorOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
age-related macular degenerationOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
age related macular degeneration 11Open Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
age related macular degeneration 4Open Targets
0.06Suggestive
age related macular degeneration 6Open Targets
0.06Suggestive
age related macular degeneration 7Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLEKHG4Shared pathway100%ARHGEF25Shared pathway100%PLEKHG4BShared pathway67%KIAA1755Shared pathway50%ARHGAP19Shared pathway50%GARNL3Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Ovary
82%
Lung
59%
Heart
40%
Brain
21%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
ARHGEF40PLEKHG4ARHGEF25PLEKHG4BKIAA1755ARHGAP19GARNL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TER5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.52–0.72]
RankingsWhere ARHGEF40 stands among ~20K protein-coding genes
  • #9,972of 20,598
    Most Researched41
  • #5,581of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedARHGEF40
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.
PMID: 32276436
Genes (Basel) · 2020
1.00
2
ARHGEF40 promotes non-small cell lung cancer proliferation and invasion via the AKT-Wnt axis by binding to RhoA.
PMID: 36000254
Mol Carcinog · 2022
0.90
3
Bioinformatics identification of potential biomarkers and therapeutic targets for ischemic stroke and vascular dementia.
PMID: 38320734
Exp Gerontol · 2024
0.80
4
A genome wide association study for lung function in the Korean population using an exome array.
PMID: 32336055
Korean J Intern Med · 2021
0.70
5
Interplay between Solo and keratin filaments is crucial for mechanical force-induced stress fiber reinforcement.
PMID: 26823019
Mol Biol Cell · 2016
0.60