RASD2: A Small GTPase of the RAS Superfamily
Key regulator of neuronal signaling and potential oncogene
Gene Information Card
| Symbol | RASD2 |
|---|---|
| Full Name | RASD family member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 23551 ncbi.nlm.nih.gov/gene/23551 |
| Ensembl ID | ENSG00000100302 |
| UniProt ID | Q96D21 |
| OMIM ID | 609004 |
| HGNC ID | 18228 |
| Aliases | Rhes, RASD2, MGC138207 |
Description
RASD2 (RASD family member 2) encodes a member of the RAS superfamily of small GTPases. The protein, also known as Rhes (Ras homolog enriched in striatum), is predominantly expressed in the brain, particularly in the striatum. It functions as a molecular switch involved in signal transduction, regulating cell growth, differentiation, and survival. RASD2 has been implicated in neurodegenerative disorders such as Huntington disease and in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | RASD2 interacts with mutant huntingtin protein, modulating toxicity and striatal vulnerability | PMID: 19136968 |
| Colorectal cancer | Overexpression of RASD2 promotes tumor growth and metastasis via PI3K/AKT signaling | PMID: 31570795 |
| Hepatocellular carcinoma | RASD2 upregulation correlates with poor prognosis and activates MAPK/ERK pathway | PMID: 32015547 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Testis | 12.8 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 38.5 | Neuronal cell line |
| HEK293 | 5.2 | Embryonic kidney |
| HepG2 | 4.8 | Hepatocellular carcinoma |
| HCT116 | 22.1 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.208G>A (p.Glu70Lys) | Missense | <0.01% | Potential gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RASD2.
Gain of Function (GOF)
p.Glu70Lys may enhance GTPase activity and downstream signaling.
Dominant Negative (DN)
Not described for RASD2.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • GTP binding (GO:0005525) |
| • small GTPase mediated signal transduction (GO:0007264) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• PI3K-Akt signaling pathway
• MAPK/ERK signaling pathway
• RAS signaling pathway
Protein Summary
RASD2 (Rhes) is a 266-amino acid small GTPase with a molecular weight of approximately 30 kDa. It contains conserved GTP-binding domains and a C-terminal hypervariable region. The protein is highly expressed in the striatum and modulates dopamine receptor signaling. It interacts with huntingtin protein and influences autophagy and apoptosis. In cancer, RASD2 promotes cell proliferation and migration through activation of PI3K/AKT and MAPK/ERK cascades.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASD2 Knockout HEK293 Cell Line | EDJ-KQ8064 | Human | 23551 | Details Get a Quote |
| RASD2 Knockout A-549 Cell Line | EDJ-KQ33886 | Human | 23551 | Details Get a Quote |
| RASD2 Knockout HeLa Cell Line | EDJ-KQ55767 | Human | 23551 | Details Get a Quote |
| RASD2 Knockout HCT 116 Cell Line | EDJ-KQ72709 | Human | 23551 | Details Get a Quote |
