RRAS Gene - RAS Related Protein
Comprehensive genomic and functional analysis of RRAS, a member of the RAS superfamily of small GTPases involved in cell signaling, growth, and cancer.
Gene Information Card
| Symbol | RRAS |
|---|---|
| Full Name | RAS related protein |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 6237 ncbi.nlm.nih.gov/gene/6237 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | P10301 |
| OMIM ID | 165090 |
| HGNC ID | 10447 |
| Aliases | R-Ras, p23, R-Ras2 |
Description
RRAS (RAS related protein) encodes a member of the RAS subfamily of small GTPases. The protein functions as a molecular switch in signal transduction pathways, regulating cell adhesion, migration, proliferation, and survival. It is involved in integrin signaling and cytoskeletal reorganization. Mutations in RRAS are associated with Noonan syndrome and various cancers, including lung adenocarcinoma and melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Noonan syndrome | Gain-of-function mutations in RRAS lead to aberrant activation of the RAS-MAPK signaling pathway, disrupting normal development. | ClinVar, OMIM |
| Lung adenocarcinoma | Somatic mutations (e.g., G12V) result in constitutive activation of RRAS, promoting uncontrolled cell proliferation. | COSMIC, NCBI |
| Melanoma | RRAS overexpression and activating mutations contribute to tumor growth and metastasis via enhanced integrin signaling. | COSMIC, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 18.7 | High expression |
| MCF7 (breast carcinoma) | 7.2 | Low expression |
| HEK293 (embryonic kidney) | 10.5 | Medium expression |
| SK-MEL-28 (melanoma) | 22.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| G12V | Substitution | <1% | Activating mutation; constitutive GTP binding, increased downstream signaling. |
| G38R | Substitution | <0.5% | Gain-of-function; associated with Noonan syndrome. |
| Q87L | Substitution | <0.1% | Activating mutation; impaired GTP hydrolysis. |
| T87I | Substitution | <0.1% | Likely gain-of-function; reported in melanoma. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in RRAS; most mutations are activating.
Gain of Function (GOF)
G12V, G38R, Q87L, and T87I are gain-of-function mutations that increase GTP-bound active state, enhancing RAS-MAPK signaling.
Dominant Negative (DN)
No dominant-negative mutations have been described for RRAS.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • signal transduction | • cell adhesion |
| • cell migration | • regulation of cell proliferation |
| • integrin-mediated signaling pathway | • RAS protein signal transduction |
Pathways
• RAS signaling pathway
• MAPK signaling pathway
• Integrin signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
RRAS is a 218-amino acid small GTPase (UniProt P10301) that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to the plasma membrane and endosomes, where it regulates cell adhesion, spreading, and migration through interactions with integrins and effectors such as RALGDS and PI3K. RRAS is ubiquitously expressed with highest levels in testis and brain. Activating mutations are oncogenic and linked to Noonan syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRAS2 Knockout HEK293 Cell Line | EDJ-KQ755 | Human | 22800 | Details Get a Quote |
| RRAS Knockout HEK293 Cell Line | EDJ-KQ1226 | Human | 6237 | Details Get a Quote |
| RRAS2 Knockout HeLa Cell Line | EDJ-KQ18253 | Human | 22800 | Details Get a Quote |
| RRAS2 Knockout A-549 Cell Line | EDJ-KQ19417 | Human | 22800 | Details Get a Quote |
| RRAS2 Knockout HCT 116 Cell Line | EDJ-KQ19418 | Human | 22800 | Details Get a Quote |
| RRAS Knockout A-549 Cell Line | EDJ-KQ20558 | Human | 6237 | Details Get a Quote |
| RRAS Knockout HCT 116 Cell Line | EDJ-KQ20559 | Human | 6237 | Details Get a Quote |
| RRAS Knockout HeLa Cell Line | EDJ-KQ20560 | Human | 6237 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
