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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RAPGEF5
Rap guanine nucleotide exchange factor 5
Chromosome 7 · 7p15.3
NCBI Gene: 9771Ensembl: ENSG00000136237.20HGNC: HGNC:16862UniProt: A0A0S2Z561
26PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityGTP-dependent protein bindingnucleusnuclear bodymusculoskeletal system diseasemale reproductive system diseasevein disorderlymphatic system disease
✦AI Summary

RAPGEF5 is a guanine nucleotide exchange factor that activates RAP1A, RAP2A, and MRAS small GTPases, regulating fundamental cellular processes including cell adhesion, migration, and signal transduction 1. The protein functions during mammalian embryogenesis and is critical for proper nervous system development 1. RAPGEF5 mutations are associated with both neurological disorders and congenital heart disease 1. A disruptive insertion in the RAPGEF5 gene is linked to idiopathic epilepsy in canines through disruption of Wnt-β-catenin signaling, which is essential for normal brain function 2. In human disease, RAPGEF5 variants show significant associations with multiple primary melanoma risk 3 and with sporadic amyotrophic lateral sclerosis susceptibility 4. Additionally, the circular RNA form of RAPGEF5 (circ-RAPGEF5) has emerged as an oncogenic factor in intrahepatic cholangiocarcinoma and colorectal cancer, promoting tumor progression through miRNA sponging mechanisms 56. In diabetic cardiac pathology, RAPGEF5 expression changes contribute to exaggerated post-myocardial infarction remodeling through effects on cardiomyocyte apoptosis and proliferation 7.

Sources cited
1
RAPGEF5 is a potent activator of Rap proteins; mutations linked to neurological disorders and congenital heart disease; expressed during mammalian embryogenesis
PMID: 31163262
2
RAPGEF5 disruptive insertion associated with idiopathic epilepsy in Belgian Shepherd dogs; involved in Wnt-β-catenin signaling crucial for brain function
PMID: 35885906
3
RAPGEF5 genetic variants significantly associated with multiple primary melanoma risk
PMID: 40036058
4
RAPGEF5 gene identified as significantly associated with sporadic amyotrophic lateral sclerosis in multi-ethnic meta-analysis
PMID: 32968195
5
Circular RNA form of RAPGEF5 (circ-RAPGEF5) promotes intrahepatic cholangiocarcinoma progression via miR-3185/SAE1 axis
PMID: 37705041
6
Circ-RAPGEF5 promotes colorectal cancer progression through miR-545-5p/GALNT3 axis; downregulation inhibits tumor growth
PMID: 38775215
7
Rapgef5 expression modulated in diabetic cardiac tissue following myocardial infarction; involved in diabetes-mediated cardiomyocyte apoptosis and proliferation
PMID: 40162308
Disease Associationsⓘ20
musculoskeletal system diseaseOpen Targets
0.32Weak
male reproductive system diseaseOpen Targets
0.31Weak
lymphatic system diseaseOpen Targets
0.30Weak
vein disorderOpen Targets
0.30Weak
trauma complicationOpen Targets
0.29Weak
mixed connective tissue diseaseOpen Targets
0.29Weak
JaundiceOpen Targets
0.26Weak
dilated cardiomyopathy 1AOpen Targets
0.26Weak
acute tonsillitisOpen Targets
0.25Weak
albuminuriaOpen Targets
0.13Weak
intrahepatic cholangiocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
familial male-limited precocious pubertyOpen Targets
0.05Suggestive
glomerulonephritisOpen Targets
0.05Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
intestinal impactionOpen Targets
0.04Suggestive
X-linked intellectual disability-macrocephaly-macroorchidism syndromeOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr)Likely pathogenic
Dilated cardiomyopathy 1A
☆☆☆☆→ Residue 811
View on ClinVar ↗
Related Genes
HRASProtein interaction99%MRASProtein interaction98%RAP1BProtein interaction95%NRASProtein interaction94%RRASProtein interaction92%RAP1AProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Heart
44%
Lung
39%
Liver
33%
Bone Marrow
8%
Ovary
8%
Gene Interaction Network
Click a node to explore
RAPGEF5HRASMRASRAP1BNRASRRASRAP1A
PROTEIN STRUCTURE
Preparing viewer…
PDB1WGY · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.48–0.74]
RankingsWhere RAPGEF5 stands among ~20K protein-coding genes
  • #12,859of 20,598
    Most Researched26
  • #5,303of 5,498
    Most Pathogenic Variants1
  • #5,835of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedRAPGEF5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
Expression of the guanine nucleotide exchange factor, RAPGEF5, during mouse and human embryogenesis.
PMID: 31163262
Gene Expr Patterns · 2019
0.90
3
Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression by stabilizing SAE1 to facilitate SUMOylation.
PMID: 37705041
J Exp Clin Cancer Res · 2023
0.80
4
Association of Inherited Genetic Variants with Multiple Primary Melanoma.
PMID: 40036058
Cancer Epidemiol Biomarkers Prev · 2025
0.70
5
Identification of novel target genes in exaggerated cardiac remodeling following myocardial infarction in diabetes.
PMID: 40162308
Front Endocrinol (Lausanne) · 2025
0.60