RALGDS
Ral Guanine Nucleotide Dissociation Stimulator
Gene Information Card
| Symbol | RALGDS |
|---|---|
| Full Name | Ral Guanine Nucleotide Dissociation Stimulator |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 5900 ncbi.nlm.nih.gov/gene/5900 |
| Ensembl ID | ENSG00000136810 |
| UniProt ID | Q12967 |
| OMIM ID | 601619 |
| HGNC ID | 9839 |
| Aliases | RalGDS, RalGEF, RalGDS1 |
Description
RALGDS (Ral Guanine Nucleotide Dissociation Stimulator) encodes a guanine nucleotide exchange factor (GEF) that specifically activates Ral GTPases (RALA and RALB) by promoting the exchange of GDP for GTP. It functions downstream of RAS signaling and is involved in cellular processes such as proliferation, differentiation, and cytoskeletal organization. The gene is located on chromosome 9q34.13 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RALGDS overexpression or mutation may enhance Ral signaling, promoting tumor growth and metastasis | COSMIC, ClinVar |
| No specific monogenic disease reported | Not applicable | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 10.1 | Moderate expression |
| A549 | 8.7 | Moderate expression |
| MCF7 | 6.4 | 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 functional effect |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | <0.05% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp189*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RALGDS.
Dominant Negative (DN)
No dominant-negative mutations reported in RALGDS.
View complete mutation data：
Gene Ontology (GO)
| • Guanine nucleotide exchange factor activity (GO:0005085) | • Ral GTPase binding (GO:0017048) |
| • Ras protein signal transduction (GO:0007265) | • Cytoplasm (GO:0005737) |
| • Plasma membrane (GO:0005886) |
Pathways
• RAS signaling pathway (Reactome: R-HSA-5673001)
• Ral GTPase cycle (Reactome: R-HSA-9013408)
• Signaling by RAS mutants (Reactome: R-HSA-6802949)
Protein Summary
The RALGDS protein (UniProt Q12967) is a 914-amino acid guanine nucleotide exchange factor that contains a Ras-associating (RA) domain and a CDC25-like GEF domain. It localizes to the cytoplasm and plasma membrane, where it interacts with activated RAS to stimulate Ral GTPases. The protein plays a role in cell proliferation, migration, and vesicle trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RALGDS Knockout HEK293 Cell Line | EDJ-KQ1246 | Human | 5900 | Details Get a Quote |
| RALGDS Knockout A-549 Cell Line | EDJ-KQ20611 | Human | 5900 | Details Get a Quote |
| RALGDS Knockout HCT 116 Cell Line | EDJ-KQ20612 | Human | 5900 | Details Get a Quote |
| RALGDS Knockout HeLa Cell Line | EDJ-KQ20613 | Human | 5900 | Details Get a Quote |
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