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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGEF3
Rho guanine nucleotide exchange factor 3
Chromosome 3 · 3p14.3
NCBI Gene: 50650Ensembl: ENSG00000163947.12HGNC: HGNC:683UniProt: B7Z6B2
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of Rho protein signal transductioncytosolRho protein signal transductionopen-angle glaucomaglaucomacholelithiasisthrombocytopenia 4
✦AI Summary

ARHGEF3 (Rho guanine nucleotide exchange factor 3) is a widely-expressed guanine nucleotide exchange factor that catalyzes nucleotide exchange on RhoA and RhoB GTPases 1, thereby positively regulating Rho protein signaling cascades. The gene is located at chromosome 3-21 1 and encodes a 526-amino acid polypeptide 1. ARHGEF3 plays important roles in multiple physiological processes. During megakaryocyte maturation, ARHGEF3 is dramatically upregulated and influences platelet function; a promoter SNP (rs1354034) acts as an expression quantitative locus associated with platelet activation and mean platelet volume in humans 2. In bone metabolism, ARHGEF3 knockdown reduces expression of osteoprotegerin in osteoblasts, suggesting involvement in bone homeostasis 3. ARHGEF3 has emerging clinical significance in multiple disease contexts. In osteosarcoma, ARHGEF3 is downregulated and correlates with increased invasion, metastasis, and proliferation, positioning it as a potential therapeutic target 4. The gene exhibits conserved antiviral properties across species, with ARHGEF3 overexpression inhibiting hepatitis C virus and flavivirus (yellow fever and Zika) replication in both humans and rhesus macaques 5. ARHGEF3 is also implicated in Hirschsprung disease susceptibility through genetic variants within RET-dependent loci 6. Additionally, exosomal miR-1911-5p regulates ARHGEF3 to promote macrophage M2 polarization and cisplatin resistance in gastric cancer 7.

Sources cited
1
ARHGEF3 is a novel RhoGEF encoding a 526-amino acid polypeptide, mapped to chromosome 3p13-21
PMID: 10873612
2
ARHGEF3 is dramatically upregulated during megakaryocyte maturation; a promoter SNP (rs1354034) is an eQTL associated with ARHGEF3 expression and platelet activation
PMID: 28542600
3
ARHGEF3 knockdown reduces osteoprotegerin expression in osteoblasts, implicating it in bone metabolism
PMID: 24840563
4
ARHGEF3 is downregulated in osteosarcoma and associated with invasion, metastasis, and proliferation
PMID: 34350290
5
ARHGEF3 overexpression inhibits hepatitis C virus and flavivirus replication in both human and rhesus macaque cells
PMID: 36016278
6
ARHGEF3 genetic variants are associated with Hirschsprung disease susceptibility in Han Chinese population
PMID: 32139661
7
Exosomal miR-1911-5p targets ARHGEF3 to promote macrophage M2 polarization and cisplatin resistance in gastric cancer
PMID: 40664751
8
ARHGEF3 is among genes regulated in brain by glucocorticoids, involved in actin cytoskeleton regulation
PMID: 29180230
Disease Associationsⓘ20
open-angle glaucomaOpen Targets
0.46Moderate
glaucomaOpen Targets
0.39Weak
cholelithiasisOpen Targets
0.37Weak
thrombocytopenia 4Open Targets
0.37Weak
hemorrhagic diseaseOpen Targets
0.36Weak
celiac diseaseOpen Targets
0.32Weak
thrombophiliaOpen Targets
0.32Weak
atrophic gastritisOpen Targets
0.31Weak
otosclerosisOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
ThrombocytopeniaOpen Targets
0.29Weak
response to stimulusOpen Targets
0.29Weak
gram-negative bacterial infectionsOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.24Weak
adolescent idiopathic scoliosisOpen Targets
0.18Weak
cervical carcinomaOpen Targets
0.16Weak
asthmaOpen Targets
0.16Weak
essential hypertensionOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RHOBProtein interaction95%RHOCProtein interaction91%CDC42Protein interaction89%RHOAProtein interaction82%RICTORProtein interaction79%ARHGEF12Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
69%
Heart
63%
Lung
63%
Bone Marrow
62%
Liver
10%
Gene Interaction Network
Click a node to explore
ARHGEF3RHOBRHOCCDC42RHOARICTORARHGEF12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NR81
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.43 [0.32–0.59]
RankingsWhere ARHGEF3 stands among ~20K protein-coding genes
  • #8,909of 20,598
    Most Researched49
  • #4,013of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedARHGEF3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Glucocorticoids, genes and brain function.
PMID: 29180230
Prog Neuropsychopharmacol Biol Psychiatry · 2018
1.00
2
ARHGEF3 Associated with Invasion, Metastasis, and Proliferation in Human Osteosarcoma.
PMID: 34350290
Biomed Res Int · 2021
0.90
3
A Human and Rhesus Macaque Interferon-Stimulated Gene Screen Shows That Over-Expression of
PMID: 36016278
Viruses · 2022
0.80
4
Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22.
PMID: 10873612
Biochem Biophys Res Commun · 2000
0.70
5
SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume.
PMID: 28542600
PLoS One · 2017
0.60