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26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RAPGEF3
Rap guanine nucleotide exchange factor 3
Chromosome 12 · 12q13.11
NCBI Gene: 10411Ensembl: ENSG00000079337.17HGNC: HGNC:16629UniProt: O95398
174PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecortical actin cytoskeletonguanyl-nucleotide exchange factor activityprotein bindingAbnormality of the skeletal systemhypothyroidismthyroid diseaseopen-angle glaucoma
✦AI Summary

RAPGEF3 encodes EPAC1 (exchange protein directly activated by cAMP), a cAMP-responsive guanine nucleotide exchange factor that activates RAP1A and RAP2A small GTPases 1. EPAC1 functions as a cAMP sensor mediating intracellular signaling through dynamic signalosomes formed with diverse cellular partners 1. Mechanistically, EPAC1 regulates multiple physiological processes including adipogenesis, where selective pharmacological activation increases brown adipose tissue mass and browning of white fat, reducing diet-induced obesity 2. In podocytes, EPAC1 activation protects against glomerulonephritis by reprogramming cellular metabolism through enhanced mitochondrial function and glycolysis 3. EPAC1 also promotes autophagy in pancreatic β-cells via calcium-dependent signaling through calcineurin and TFEB, supporting cell survival under metabolic stress 4. In vascular endothelium, EPAC1 activation restores endothelial function during inflammation by suppressing IL-6-mediated pro-inflammatory responses and upregulating nitric oxide synthase 5. Clinically, RAPGEF3 variants associate with obesity risk: a coding variant correlates positively with BMI and abolishes noradrenaline-induced brown adipocyte proliferation 2, while rare variants show ~10-fold larger BMI effects than common variants 6. In pulmonary fibrosis, EPAC1 inhibition with AM-001 protects against progression by blocking profibrotic pathways 7. In lung cancer, RAPGEF3 drives basal-subtype progression via RAP1A-AKT signaling and represents a therapeutic vulnerability amenable to selective inhibition 8.

Sources cited
1
EPAC1 activation increases brown adipose tissue mass and browning of white fat; RAPGEF3 coding variant correlates with BMI and impairs brown adipocyte proliferation
PMID: 38195707
2
EPAC1 activation protects podocytes in glomerulonephritis through metabolic reprogramming and mitochondrial function enhancement
PMID: 38821447
3
Rare coding variants in RAPGEF3 are newly implicated in human obesity with ~10-fold larger effect sizes than common variants
PMID: 29273807
4
EPAC1 inhibition with AM-001 protects against pulmonary fibrosis by blocking fibroblast proliferation and profibrotic pathways
PMID: 40639873
5
EPAC1 is a cAMP sensor and guanine nucleotide exchange factor for Rap GTPases; functions as stress response switch in cardiac, pain, cancer and infectious disease contexts
PMID: 26119090
6
RAPGEF3/EPAC-mediated calcium signaling promotes autophagy in pancreatic β-cells through calcineurin-TFEB axis
PMID: 34338148
7
RAPGEF3 drives basal-subtype lung squamous cell carcinoma through RAP1A-AKT signaling and is a therapeutic vulnerability
PMID: 40781157
8
EPAC1 activation restores endothelial function in vascular inflammation by suppressing IL-6 pro-inflammatory responses and upregulating eNOS
PMID: 40848957
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
hypothyroidismOpen Targets
0.43Moderate
thyroid diseaseOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.33Weak
glaucomaOpen Targets
0.28Weak
Hashimoto's thyroiditisOpen Targets
0.27Weak
hemorrhoidOpen Targets
0.15Weak
cardiovascular diseaseOpen Targets
0.11Weak
melanomaOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.07Suggestive
Pallister-Hall syndromeOpen Targets
0.07Suggestive
thromboangiitis obliteransOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
MODYOpen Targets
0.06Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRKACBProtein interaction99%ABCC8Protein interaction99%PDE4AProtein interaction97%PDE4DProtein interaction97%MAPK7Protein interaction97%AKAP1Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Heart
25%
Lung
17%
Bone Marrow
8%
Brain
8%
Liver
5%
Gene Interaction Network
Click a node to explore
RAPGEF3PRKACBABCC8PDE4APDE4DMAPK7AKAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6H7E · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.69–0.95]
RankingsWhere RAPGEF3 stands among ~20K protein-coding genes
  • #2,531of 20,598
    Most Researched174 · top quartile
  • #8,942of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedRAPGEF3
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
EPAC1 enhances brown fat growth and beige adipogenesis.
PMID: 38195707
Nat Cell Biol · 2024
1.00
2
Signaling through cAMP-Epac1 induces metabolic reprogramming to protect podocytes in glomerulonephritis.
PMID: 38821447
Kidney Int · 2024
0.90
3
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
PMID: 29273807
Nat Genet · 2018
0.80
4
Pharmacological inhibition of Epac1 protects against pulmonary fibrosis by blocking FoxO3a neddylation.
PMID: 40639873
Eur Respir J · 2025
0.70
5
Epac: new emerging cAMP-binding protein.
PMID: 33298248
BMB Rep · 2021
0.68