RIT2 Gene - Ras-like Without CAAX 2
A small GTPase involved in neuronal development and Parkinson's disease risk
Gene Information Card
| Symbol | RIT2 |
|---|---|
| Full Name | Ras-like without CAAX 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.3 |
| NCBI Gene ID | 6014 ncbi.nlm.nih.gov/gene/6014 |
| Ensembl ID | ENSG00000101473 |
| UniProt ID | Q99578 |
| OMIM ID | 609592 |
| HGNC ID | 10023 |
| Aliases | RIBA, RIN, ROC2 |
Description
RIT2 (Ras-like without CAAX 2) encodes a member of the Ras superfamily of small GTPases. The protein lacks the C-terminal CAAX motif required for membrane localization and is predominantly expressed in neuronal tissues. RIT2 functions in neuronal development, differentiation, and survival by regulating intracellular signaling pathways. Genetic variants in RIT2 have been associated with increased risk for Parkinson's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Risk variants (e.g., rs12456492) in RIT2 are associated with altered gene expression in brain tissues, potentially affecting dopaminergic neuron function. | GWAS (Nalls et al., 2014, PMID: 25064009) |
| Autism spectrum disorder | RIT2 copy number variants and rare mutations have been identified in ASD cohorts, suggesting a role in neurodevelopment. | Case-control studies (Pinto et al., 2010, PMID: 20603014) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - cortex | 12.5 | Medium |
| Brain - cerebellum | 10.2 | Medium |
| Brain - substantia nigra | 8.9 | Low |
| Testis | 4.1 | Low |
| Adrenal gland | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| SK-N-SH (neuroblastoma) | 12.8 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12456492 | SNP (intronic) | 0.35 (European) | Risk allele for Parkinson's disease; associated with reduced RIT2 expression |
| rs16976358 | SNP (intronic) | 0.12 (European) | Nominally associated with Parkinson's disease risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • intracellular signal transduction (GO:0035556) | • neuron projection development (GO:0031175) |
| • dendrite morphogenesis (GO:0048813) |
Pathways
• Ras signaling pathway (Reactome: R-HSA-5673001)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
Protein Summary
RIT2 is a 25 kDa small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It lacks a CAAX motif, making it cytosolic rather than membrane-anchored. RIT2 is highly expressed in neurons, where it regulates neurite outgrowth, dendritic spine formation, and synaptic function. It interacts with effectors such as RalGDS and PLCε to modulate downstream signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIT2 Knockout HEK293 Cell Line | EDJ-KQ5675 | Human | 6014 | Details Get a Quote |
| RIT2 Knockout HeLa Cell Line | EDJ-KQ54326 | Human | 6014 | Details Get a Quote |
| RIT2 Knockout A-549 Cell Line | EDJ-KQ62820 | Human | 6014 | Details Get a Quote |
| RIT2 Knockout HCT 116 Cell Line | EDJ-KQ71285 | Human | 6014 | Details Get a Quote |
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