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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGEF15
Rho guanine nucleotide exchange factor 15
Chromosome 17 · 17p13.1
NCBI Gene: 22899Ensembl: ENSG00000198844.13HGNC: HGNC:15590UniProt: A0A0S2Z547
27PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingguanyl-nucleotide exchange factor activityregulation of actin cytoskeleton organizationpositive regulation of Rho protein signal transductiondevelopmental and epileptic encephalopathyMicroscopic hematuriaHypercholesterolemiaFamilial prostate cancer
✦AI Summary

ARHGEF15 (also known as Ephexin5) is a Rho-specific guanine nucleotide exchange factor (GEF) that activates RhoA and mediates VEGF-induced Cdc42 activation in endothelial cells 1. It does not activate RAC1 or CDC42 directly, though it can potentiate Cdc42 signaling in specific contexts 2. ARHGEF15 is highly enriched in developing endothelial cells and is essential for neonatal retinal vascularization and angiogenesis 31, functioning through regulation of actin polymerization and cell motility. Beyond vascular development, ARHGEF15 plays context-dependent roles in disease. In pancreatic ductal adenocarcinoma, ARHGEF15 overexpression promotes cancer cell motility and proliferation through Rho pathway activation, correlating with poor prognosis 2. In endothelial cells, ARHGEF15 promotes migration via STAT3 phosphorylation rather than proliferation 4. Conversely, ARHGEF15 functions as a developmental synapse repressor (Ephexin5); its pathological elevation in Alzheimer's disease drives amyloid-β-induced dendritic spine loss and cognitive impairment, and reducing its expression ameliorates disease-like phenotypes 5. ARHGEF15 has also been implicated in early-onset epilepsy, where mutations reduce GEF exchange activity 6, and upregulation occurs in alcohol use disorder brain tissue 7. These findings indicate ARHGEF15 represents a pleiotropic regulator with therapeutic potential across multiple disease contexts.

Sources cited
1
ARHGEF15 is an EC-specific RhoGEF mediating VEGF-induced Cdc42 activation and promoting retinal angiogenesis through actin polymerization and cell motility
PMID: 23029280
2
ARHGEF15 is highly enriched in developing endothelial cells and is important for neonatal retinal vascularization
PMID: 22535667
3
ARHGEF15 overexpression promotes pancreatic cancer cell motility and proliferation through Rho signaling and correlates with poor prognosis
PMID: 27145964
4
ARHGEF15 promotes endothelial cell migration through STAT3 phosphorylation without affecting proliferation
PMID: 41359253
5
ARHGEF15 (Ephexin5) functions as a developmental synapse repressor; pathological elevation in Alzheimer's disease drives cognitive impairment, and reducing its expression ameliorates deficits
PMID: 28346227
6
De novo ARHGEF15 mutations reduce GEF exchange activity by ~50% and are associated with early-onset intractable epilepsy
PMID: 23647072
7
ARHGEF15 is upregulated in the dorsal and ventral striatum in alcohol use disorder
PMID: 35523767
Disease Associationsⓘ21
developmental and epileptic encephalopathyOpen Targets
0.34Weak
Microscopic hematuriaOpen Targets
0.31Weak
HypercholesterolemiaOpen Targets
0.25Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
age-related macular degenerationOpen Targets
0.08Suggestive
Uterine leiomyomaOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
persistent fetal circulation syndromeOpen Targets
0.05Suggestive
age related macular degeneration 11Open Targets
0.05Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
age related macular degeneration 4Open Targets
0.05Suggestive
age related macular degeneration 6Open Targets
0.05Suggestive
age related macular degeneration 7Open Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
adenocarcinomaOpen Targets
0.04Suggestive
PDA1Open Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
Brain small vessel disease 5 with osteoporosisUniProt
Pathogenic Variants1
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del)Likely pathogenic
Developmental and epileptic encephalopathy
★☆☆☆2018→ Residue 237
View on ClinVar ↗
Related Genes
UBE3AProtein interaction87%RHOAProtein interaction85%EPHA4Protein interaction84%MCF2Protein interaction71%CDC42Protein interaction70%ARHGEF5Shared pathway38%
Tissue Expression6 tissues
Heart
100%
Lung
67%
Liver
17%
Ovary
14%
Brain
3%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ARHGEF15UBE3ARHOAEPHA4MCF2CDC42ARHGEF5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94989
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.59–0.92]
RankingsWhere ARHGEF15 stands among ~20K protein-coding genes
  • #12,507of 20,598
    Most Researched27
  • #5,283of 5,498
    Most Pathogenic Variants1
  • #8,400of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedARHGEF15
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide identification of endothelial cell-enriched genes in the mouse embryo.
PMID: 22535667
Blood · 2012
1.00
2
ARHGEF15 overexpression worsens the prognosis in patients with pancreatic ductal adenocarcinoma through enhancing the motility and proliferative activity of the cancer cells.
PMID: 27145964
Mol Cancer · 2016
0.90
3
ARHGEF15 Promotes Endothelial Cell Migration Through the Regulation of STAT3 Signaling.
PMID: 41359253
Curr Med Sci · 2025
0.80
4
Multi-omics signatures of alcohol use disorder in the dorsal and ventral striatum.
PMID: 35523767
Transl Psychiatry · 2022
0.70
5
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
PMID: 23647072
Epilepsia · 2013
0.60