RASGRF2
Ras Protein-Specific Guanine Nucleotide-Releasing Factor 2
Gene Information Card
| Symbol | RASGRF2 |
|---|---|
| Full Name | Ras protein-specific guanine nucleotide-releasing factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 5924 ncbi.nlm.nih.gov/gene/5924 |
| Ensembl ID | ENSG00000113319 |
| UniProt ID | O14827 |
| OMIM ID | 606613 |
| HGNC ID | 9876 |
| Aliases | CDC25L, GRF2, Ras-GRF2, RasGRF2 |
Description
RASGRF2 (Ras protein-specific guanine nucleotide-releasing factor 2) encodes a guanine nucleotide exchange factor (GEF) that activates Ras family small GTPases by promoting the exchange of GDP for GTP. The protein contains a CDC25 homology domain, a PH domain, and a coiled-coil region, and is involved in signal transduction pathways regulating cell growth, differentiation, and synaptic plasticity. RASGRF2 is expressed predominantly in the brain and plays a role in learning, memory, and addiction-related behaviors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | RASGRF2 overexpression or amplification may activate Ras-MAPK signaling, promoting tumorigenesis. | COSMIC; PMID: 22955915 |
| Lung cancer | Somatic mutations and copy number alterations in RASGRF2 have been reported, potentially contributing to Ras pathway activation. | COSMIC; PMID: 22955915 |
| Neurodevelopmental disorders | Rare variants in RASGRF2 have been associated with intellectual disability and autism spectrum disorder. | ClinVar; PMID: 25363760 |
| Substance use disorders | RASGRF2 polymorphisms are linked to alcohol and cocaine dependence, possibly via altered dopamine signaling. | PMID: 22955915; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Colon | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 4.2 | Moderate expression |
| A549 (lung carcinoma) | 3.1 | Low expression |
| HCT116 (colorectal carcinoma) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.1% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations have been reported for RASGRF2 in the curated databases.
Gain of Function (GOF)
Amplification or overexpression of RASGRF2 may lead to constitutive Ras activation, but specific gain-of-function mutations are not documented.
Dominant Negative (DN)
No dominant-negative mutations have been described for RASGRF2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ras signaling pathway (Reactome: R-HSA-167044)
• MAPK signaling pathway (KEGG: hsa04010)
• Neurotrophin signaling pathway (KEGG: hsa04722)
• Long-term potentiation (KEGG: hsa04720)
Protein Summary
RASGRF2 is a 1262-amino-acid protein that functions as a guanine nucleotide exchange factor (GEF) for Ras family GTPases, particularly H-Ras, N-Ras, and R-Ras. It contains a CDC25 homology domain responsible for catalytic activity, a pleckstrin homology (PH) domain for membrane localization, and a coiled-coil region for protein-protein interactions. RASGRF2 is highly expressed in the brain, where it modulates synaptic plasticity, learning, and memory. It also plays a role in addiction-related behaviors by influencing dopamine signaling. Dysregulation of RASGRF2 has been implicated in several cancers and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASGRF2 Knockout HEK293 Cell Line | EDJ-KQ746 | Human | 5924 | Details Get a Quote |
| RASGRF2 Knockout A-549 Cell Line | EDJ-KQ19394 | Human | 5924 | Details Get a Quote |
| RASGRF2 Knockout HeLa Cell Line | EDJ-KQ54298 | Human | 5924 | Details Get a Quote |
| RASGRF2 Knockout HCT 116 Cell Line | EDJ-KQ71258 | Human | 5924 | Details Get a Quote |
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