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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RASGEF1C
RasGEF domain family member 1C
Chromosome 5 · 5q35.3
NCBI Gene: 255426Ensembl: ENSG00000146090.17HGNC: HGNC:27400UniProt: Q8N431
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityRas protein signal transductionplasma membranesmall GTPase-mediated signal transductionAlzheimer diseaseamyotrophic lateral sclerosisplacental retentioncancer
✦AI Summary

RASGEF1C (RasGEF domain family member 1C) is a guanine nucleotide exchange factor that activates Ras family small G-proteins, particularly Rap2, at the plasma membrane 1. In endothelial cells, RASGEF1C-mediated Rap2 activation antagonizes Rap1 signaling to regulate barrier resistance 1. RASGEF1C exhibits significant disease relevance across multiple pathologies. In neurodegenerative disease, RASGEF1C expression dysregulation occurs in late-onset neurocognitive disorders including Alzheimer's disease 2, and genetic variants in RASGEF1C associate with earlier amyloid deposition onset, a hallmark of early AD pathology 3. The gene contains a polymorphic (GGC)-repeat in its promoter region under natural selection in humans, with disease-associated genotypes showing significant divergence from the predominant 6-repeat allele 2. In cancer, RASGEF1C upregulation drives lung cancer progression by activating PLK1 signaling, which enhances aerobic glycolysis and promotes tumor cell proliferation, migration, and survival 4. RASGEF1C hypomethylation serves as a promising epigenetic biomarker distinguishing papillary thyroid cancer from benign nodules, with high diagnostic accuracy particularly in younger patients and BRAF V600E-positive tumors 5. Additionally, RASGEF1C variants associate with heart failure susceptibility through protein interaction networks 6, and dysregulated RASGEF1C expression correlates with preeclampsia risk 7.

Sources cited
1
RASGEF1C is a Rap2-specific activator that antagonizes Rap1 to regulate endothelial barrier resistance
PMID: 23469100
2
RASGEF1C expression is dysregulated in late-onset neurocognitive disorders; contains a polymorphic (GGC)-repeat under natural selection in humans with disease-associated genotypes divergent from the predominant 6-repeat allele
PMID: 34584172
3
RASGEF1C variants associate with earlier age of amyloid positivity onset in Alzheimer's disease
PMID: 41388821
4
RASGEF1C upregulation drives lung cancer progression through PLK1 signaling pathway and enhanced aerobic glycolysis
PMID: 40546136
5
RASGEF1C hypomethylation is a biomarker for papillary thyroid cancer with high diagnostic accuracy, particularly in younger and BRAF V600E-positive patients
PMID: 40660340
6
RASGEF1C variants associate with heart failure susceptibility through protein interaction networks
PMID: 34572079
7
RASGEF1C exhibits consistent downregulation in preeclampsia serum and placental tissue
PMID: 40973864
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.47Moderate
amyotrophic lateral sclerosisOpen Targets
0.31Weak
placental retentionOpen Targets
0.20Weak
cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
gastric adenocarcinomaOpen Targets
0.02Suggestive
laryngotracheoesophageal cleftOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
subacute thyroiditisOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
thyroid neoplasmOpen Targets
0.01Suggestive
thyroid cancerOpen Targets
0.01Suggestive
Hashimoto's thyroiditisOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
chromophobe renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RGL2Shared pathway100%RALGDSShared pathway100%RGL1Shared pathway100%RGL3Shared pathway100%RASGEF1BShared pathway100%RGL4Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
38%
Ovary
7%
Bone Marrow
7%
Liver
6%
Lung
1%
Gene Interaction Network
Click a node to explore
RASGEF1CRGL2RALGDSRGL1RGL3RASGEF1BRGL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N431
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.10Tolerant
Observed/Expected LoF0.43 [0.31–0.62]
RankingsWhere RASGEF1C stands among ~20K protein-coding genes
  • #15,976of 20,598
    Most Researched14
  • #4,299of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedRASGEF1C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder.
PMID: 34584172
Sci Rep · 2021
1.00
2
RASGEF1C methylation for the distinguishment and classification of benign and malignant thyroid tumors.
PMID: 40660340
Clin Epigenetics · 2025
0.90
3
APOE, ABCA7, and RASGEF1C are associated with earlier onset of amyloid deposition from more than 4000 harmonized positron emission tomography images.
PMID: 41388821
Alzheimers Dement · 2025
0.80
4
RASGEF1C affects aerobic glycolysis and facilitates lung cancer progression through the PLK1 signaling pathway.
PMID: 40546136
Expert Rev Anticancer Ther · 2025
0.70
5
Species-Specific Paternal Age Effects and Sperm Methylation Levels of Developmentally Important Genes.
PMID: 35203380
Cells · 2022
0.60