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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RAPGEF2
Rap guanine nucleotide exchange factor 2
Chromosome 4 · 4q32.1
NCBI Gene: 9693Ensembl: ENSG00000109756.10HGNC: HGNC:16854UniProt: A0A994J7S7
67PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecGMP bindingguanyl-nucleotide exchange factor activityGTPase activator activitymyoclonic epilepsybenign adult familial myoclonic epilepsyepilepsy, familial adult myocloniclymphoid leukemia
✦AI Summary

RAPGEF2 is a guanine nucleotide exchange factor (GEF) that activates Rap and Ras family GTPases by exchanging GDP for GTP, functioning as a molecular link between cell surface receptors and intracellular signaling cascades 1. The protein operates through cAMP-dependent mechanisms in neurons and neuroendocrine cells, where it mediates dopamine D1 receptor-induced ERK phosphorylation in corticolimbic and striatal regions 1. RAPGEF2 participates in mechanotransduction by relaying ECM stiffness signals through RAP2 activation to control YAP/TAZ-mediated cellular responses 2. In kidney podocytes, RAPGEF2 forms a complex with MAGI2 to activate Rap1 signaling essential for maintaining glomerular integrity 3. Clinically, RAPGEF2 variants cause neurodevelopmental disorders characterized by developmental delay, epilepsy, and motor dysfunction 4, while repeat expansions in the RAPGEF2 gene cause familial adult myoclonic epilepsy (FAME) 56. In Alzheimer's disease, upregulated RAPGEF2 mediates oligomeric amyloid-β-induced synaptic loss and cognitive dysfunction through Rap2-JNK signaling 7. Additionally, RAPGEF2 degradation regulates epithelial cell migration; loss of this degradation suppresses breast cancer metastasis 8.

Sources cited
1
RAPGEF2 (NCS-Rapgef2) links cAMP elevation to ERK activation in neurons and mediates dopamine D1 receptor-induced ERK phosphorylation in corticolimbic and striatal brain regions
PMID: 28948210
2
RAPGEF2 (PDZGEF2) activates RAP2 in response to ECM stiffness signals to regulate YAP/TAZ-mediated mechanotransduction and cell growth
PMID: 30135582
3
RAPGEF2 forms a complex with MAGI2 and activates Rap1 signaling critical for podocyte function; disruption causes congenital nephrotic syndrome
PMID: 31171376
4
De novo heterozygous RAPGEF2 variants are loss-of-function alleles associated with neurodevelopmental disorder including developmental delay, epilepsy, and motor dysfunction
PMID: 41556274
5
RAPGEF2 repeat expansions (TTTCA and TTTTA) cause benign adult familial myoclonic epilepsy
PMID: 29507423
6
RAPGEF2 is one of six genes with noncoding repeat expansions associated with familial adult myoclonic epilepsy (FAME)
PMID: 37021642
7
RAPGEF2 upregulation mediates oligomeric amyloid-β-induced synaptic loss and cognitive dysfunction in Alzheimer's disease through Rap2-JNK signaling
PMID: 33345400
8
RAPGEF2 degradation through IKKβ and CK1α-mediated ubiquitination regulates epithelial cell migration; resistance to degradation suppresses breast cancer metastasis
PMID: 24290981
Disease Associationsⓘ21
myoclonic epilepsyOpen Targets
0.49Moderate
benign adult familial myoclonic epilepsyOpen Targets
0.37Weak
epilepsy, familial adult myoclonicOpen Targets
0.37Weak
lymphoid leukemiaOpen Targets
0.32Weak
drug allergyOpen Targets
0.31Weak
HeadacheOpen Targets
0.31Weak
Limb painOpen Targets
0.31Weak
Abdominal painOpen Targets
0.30Weak
nutritional deficiency diseaseOpen Targets
0.27Weak
gastric ulcerOpen Targets
0.25Weak
hemorrhageOpen Targets
0.23Weak
mathematical abilityOpen Targets
0.21Weak
peripheral vascular diseaseOpen Targets
0.16Weak
spinal cord injuryOpen Targets
0.16Weak
angina pectorisOpen Targets
0.14Weak
neuroendocrine neoplasmOpen Targets
0.14Weak
major salivary gland cancerOpen Targets
0.10Weak
tooth diseaseOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Epilepsy, familial adult myoclonic, 7UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAGI1Protein interaction99%TJP2Protein interaction98%MRASProtein interaction98%RAP2CProtein interaction97%TJP1Protein interaction96%NRASProtein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
49%
Heart
41%
Lung
29%
Liver
26%
Ovary
14%
Gene Interaction Network
Click a node to explore
RAPGEF2MAGI1TJP2MRASRAP2CTJP1NRAS
PROTEIN STRUCTURE
Preparing viewer…
PDB6QDT · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.29 [0.23–0.37]
RankingsWhere RAPGEF2 stands among ~20K protein-coding genes
  • #7,010of 20,598
    Most Researched67
  • #1,723of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedRAPGEF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RAP2 mediates mechanoresponses of the Hippo pathway.
PMID: 30135582
Nature · 2018
1.00
2
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
PMID: 29507423
Nat Genet · 2018
0.90
3
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
PMID: 37021642
Epilepsia · 2023
0.80
4
NCS-Rapgef2, the Protein Product of the Neuronal
PMID: 28948210
eNeuro · 2017
0.70
5
RAPGEF2 mediates oligomeric Aβ-induced synaptic loss and cognitive dysfunction in the 3xTg-AD mouse model of Alzheimer's disease.
PMID: 33345400
Neuropathol Appl Neurobiol · 2021
0.60