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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RASGEF1B
RasGEF domain family member 1B
Chromosome 4 · 4q21.21
NCBI Gene: 153020Ensembl: ENSG00000138670.20HGNC: HGNC:24881UniProt: Q0VAM2
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityRas protein signal transductionplasma membranemidbodyneurodegenerative diseasemyopiarefractive erroreye disease
✦AI Summary

RASGEF1B is a guanine nucleotide exchange factor (GEF) that exhibits highly specific activity toward RAP2A, a member of the Ras-like G-protein family 1. Unlike other GEFs, RASGEF1B demonstrates remarkable specificity, functioning exclusively on Rap2 while showing no activity toward Rap1 or other Ras subfamily members 1. The protein localizes to early endosomes and heavy membrane fractions, where it can trigger Ras activity through the canonical Ras-Raf-MEK-ERK pathway 2. RASGEF1B expression is induced in macrophages by Toll-like receptor (TLR) agonists, particularly TLR3 and TLR4, through MyD88-independent pathways, and during infections with protozoan parasites 2. The gene shows tissue-specific developmental expression patterns in zebrafish, including somites, brain regions, and retinal tissues 3. Clinically, RASGEF1B has emerged as a disease-relevant gene, with haploinsufficiency contributing to 4q21 microdeletion syndrome characterized by growth restriction, mental retardation, and speech delays 4. The gene has also been identified as a potential biomarker in genome-wide association studies of parathyroid hormone levels and white-coat hypertension effect, suggesting broader physiological roles 56.

Sources cited
1
RASGEF1B functions as a specific exchange factor for RAP2A, not acting on Rap1 or other Ras subfamily members
PMID: 19645719
2
RASGEF1B localizes to early endosomes, is induced by TLR agonists in macrophages, and can trigger Ras activity
PMID: 20090772
3
RASGEF1B shows tissue-specific developmental expression patterns in zebrafish
PMID: 17239665
4
RASGEF1B haploinsufficiency contributes to 4q21 microdeletion syndrome with growth restriction and developmental delays
PMID: 20522426
5
RASGEF1B variants associate with parathyroid hormone levels in genome-wide association studies
PMID: 30134803
6
RASGEF1B variants associate with white-coat hypertension effect
PMID: 31044621
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
myopiaOpen Targets
0.42Moderate
refractive errorOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.34Weak
sialolithiasisOpen Targets
0.32Weak
Tietze syndromeOpen Targets
0.32Weak
coronary artery diseaseOpen Targets
0.31Weak
cervical carcinomaOpen Targets
0.29Weak
Pathologic fractureOpen Targets
0.29Weak
COVID-19Open Targets
0.28Weak
severe acute respiratory syndromeOpen Targets
0.27Weak
myocardial infarctionOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.27Weak
injuryOpen Targets
0.23Weak
coronary atherosclerosisOpen Targets
0.20Weak
heart diseaseOpen Targets
0.20Weak
frozen shoulderOpen Targets
0.20Weak
SplenomegalyOpen Targets
0.19Weak
Abnormality of the gastrointestinal tractOpen Targets
0.18Weak
liver diseaseOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RGL2Shared pathway100%RALGDSShared pathway100%RGL1Shared pathway100%RGL3Shared pathway100%RGL4Shared pathway100%RASGEF1CShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
30%
Lung
16%
Brain
8%
Heart
5%
Ovary
3%
Gene Interaction Network
Click a node to explore
RASGEF1BRGL2RALGDSRGL1RGL3RGL4RASGEF1C
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q0VAM2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.44 [0.31–0.64]
RankingsWhere RASGEF1B stands among ~20K protein-coding genes
  • #14,515of 20,598
    Most Researched19
  • #4,595of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedRASGEF1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange.
PMID: 19645719
FEBS J · 2009
1.00
2
Early endosome localization and activity of RasGEF1b, a toll-like receptor-inducible Ras guanine-nucleotide exchange factor.
PMID: 20090772
Genes Immun · 2010
0.90
3
Expression of rasgef1b in zebrafish.
PMID: 17239665
Gene Expr Patterns · 2007
0.80
4
Identification and study of mood-related biomarkers and potential molecular mechanisms in type 2 diabetes mellitus.
PMID: 39915429
J Mol Histol · 2025
0.70
5
Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level.
PMID: 30134803
Mol Med · 2018
0.60