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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RAPGEF4
Rap guanine nucleotide exchange factor 4
Chromosome 2 · 2q31.1
NCBI Gene: 11069Ensembl: ENSG00000091428.18HGNC: HGNC:16626UniProt: B7Z278
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingguanyl-nucleotide exchange factor activityRap protein signal transductionalcohol drinkingschizophreniaintelligenceplacenta praevia
✦AI Summary

RAPGEF4 (Rap guanine nucleotide exchange factor 4), also known as Epac2, is a cAMP-activated guanine nucleotide exchange factor that activates small GTPases RAP1A, RAP1B, and RAP2A 1. The protein functions as a direct cAMP sensor involved in cAMP-mediated signal transduction 1, with primary expression in brain, neuroendocrine, and endocrine tissues 1. Mechanistically, RAPGEF4 regulates diverse cellular processes through calcium-dependent signaling. In pancreatic β-cells, RAPGEF4 mediates GLP-1 receptor agonist-induced autophagy through a calcium-calcineurin-TFEB axis, independent of AMPK/mTOR pathways 2. In neuronal development, RAPGEF4 is critical for maturation of resting membrane potential and inward sodium current in prefrontal cortex neurons, with deficiency in autism-associated CHD8 gene leading to RAPGEF4 downregulation and impaired electrophysiological maturation 3. Disease relevance spans multiple conditions: RAPGEF4 dysregulation associates with type 2 diabetes pathogenesis 2, neuropsychiatric disorders including autism and major depressive disorder 34, polycystic ovary syndrome 5, and sex-specific cardiac fibrosis in aging 6. The rs3769219 polymorphism shows protective effects against depression in males and recurrent depression overall 4. RAPGEF4 represents a potential therapeutic target for metabolic and neuropsychiatric disorders 7.

Sources cited
1
RAPGEF4/Epac2 is a direct cAMP target involved in Rap GTPase activation, expressed in brain and neuroendocrine/endocrine tissues
PMID: 26390815
2
RAPGEF4 mediates GLP-1 agonist-induced autophagy in pancreatic β-cells via calcium-calcineurin-TFEB signaling, independent of AMPK/mTOR
PMID: 34338148
3
RAPGEF4 is important for maturation of resting membrane potential and sodium current in prefrontal cortex neurons; restoration rescues CHD8-deficient neuron maturation
PMID: 40398411
4
RAPGEF4 rs3769219 A-allele associates with reduced MDD risk in males and recurrent MDD in total population
PMID: 32905835
5
RAPGEF4 is differentially expressed in PCOS granulosa cells, involved in ovarian steroidogenesis and fertility dysfunction
PMID: 40170064
6
RAPGEF4 is upregulated with age in females and associated with cardiac fibrosis and thrombosis pathway dysregulation
PMID: 40025369
7
EPAC1 and EPAC2 (RAPGEF4) are potential therapeutic targets for cardiovascular disease and insulin resistance
PMID: 31671184
8
RAPGEF4 is a potential downstream target of NOP2 in ovarian cancer, regulated by m5C methylation
PMID: 37800580
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.43Moderate
schizophreniaOpen Targets
0.31Weak
intelligenceOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.30Weak
Pancreatic pseudocystOpen Targets
0.29Weak
cardiomyopathyOpen Targets
0.27Weak
ankylosing spondylitisOpen Targets
0.22Weak
secondary malignant neoplasmOpen Targets
0.20Weak
Abruptio PlacentaeOpen Targets
0.19Weak
thyroid cancerOpen Targets
0.19Weak
preeclampsiaOpen Targets
0.19Weak
atopic eczemaOpen Targets
0.19Weak
ApneaOpen Targets
0.17Weak
multinodular goiterOpen Targets
0.17Weak
mental or behavioural disorderOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAP1BProtein interaction100%ADCY2Protein interaction98%RAP1AProtein interaction98%RYR2Protein interaction98%ABCC8Protein interaction98%ADCY1Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Liver
43%
Heart
29%
Ovary
23%
Lung
17%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
RAPGEF4RAP1BADCY2RAP1ARYR2ABCC8ADCY1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WZA2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.43 [0.34–0.54]
RankingsWhere RAPGEF4 stands among ~20K protein-coding genes
  • #6,750of 20,598
    Most Researched70
  • #3,438of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedRAPGEF4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exendin-4 stimulates autophagy in pancreatic β-cells via the RAPGEF/EPAC-Ca
PMID: 34338148
Autophagy · 2022
1.00
2
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortex.
PMID: 40398411
Neuron · 2025
0.90
3
Structure and functional roles of Epac2 (Rapgef4).
PMID: 26390815
Gene · 2016
0.80
4
Downregulation of FASN in granulosa cells and its impact on ovulatory dysfunction in PCOS.
PMID: 40170064
J Ovarian Res · 2025
0.70
5
Understanding diabetic retinopathy.
PMID: 26088199
Sci China Life Sci · 2015
0.60