MRAS Gene: Structure, Function, and Clinical Significance
Comprehensive genomic and proteomic overview of the MRAS (Muscle RAS Oncogene Homolog) gene
Gene Information Card
| Symbol | MRAS |
|---|---|
| Full Name | Muscle RAS Oncogene Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.3 |
| NCBI Gene ID | 22808 ncbi.nlm.nih.gov/gene/22808 |
| Ensembl ID | ENSG00000158186 |
| UniProt ID | O14807 |
| OMIM ID | 608435 |
| HGNC ID | 7227 |
| Aliases | M-Ras, R-Ras3, RRAS3 |
Description
MRAS (Muscle RAS Oncogene Homolog) encodes a member of the RAS subfamily of small GTPases. The protein cycles between an active GTP-bound and inactive GDP-bound state, acting as a molecular switch in signal transduction pathways, particularly the MAPK/ERK cascade. MRAS is involved in cell growth, differentiation, and survival. Mutations in MRAS are associated with Noonan syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Noonan syndrome | Gain-of-function mutations in MRAS lead to increased MAPK signaling, disrupting normal development. | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression and activating mutations of MRAS promote cell proliferation and tumor growth. | COSMIC, NCBI |
| Colorectal cancer | MRAS mutations and copy number alterations contribute to aberrant RAS signaling. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.2 | Cervical adenocarcinoma |
| A549 | 5.9 | Lung carcinoma |
| HEK293 | 6.8 | Embryonic kidney |
| HepG2 | 4.5 | Hepatocellular carcinoma |
| MCF7 | 3.1 | Breast adenocarcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.53G>A (p.Gly18Asp) | Missense | Rare | Gain-of-function; increased GTP binding and MAPK activation |
| c.70C>T (p.Arg24Cys) | Missense | Rare | Gain-of-function; associated with Noonan syndrome |
| c.181C>T (p.Arg61Trp) | Missense | Rare | Gain-of-function; reduced GTPase activity |
| c.218A>G (p.Gln73Arg) | Missense | Rare | Gain-of-function; enhanced downstream signaling |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MRAS.
Gain of Function (GOF)
Activating missense mutations (e.g., Gly18Asp, Arg24Cys, Arg61Trp, Gln73Arg) increase GTP binding and MAPK/ERK signaling, driving oncogenesis and developmental disorders.
Dominant Negative (DN)
No dominant-negative mutations described for MRAS.
View complete mutation data:
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • Signal transduction | • Ras protein signal transduction |
| • MAPK cascade | • Cell proliferation |
| • Cell differentiation | • Plasma membrane |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• Ras signaling pathway (KEGG: hsa04014)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• Signaling by RAS mutants (Reactome: R-HSA-6802949)
Protein Summary
MRAS encodes a 208-amino acid protein (UniProt O14807) belonging to the RAS GTPase family. It shares high homology with R-Ras and TC21. MRAS localizes to the plasma membrane and endomembranes, where it transduces signals from receptor tyrosine kinases to downstream effectors such as RAF and PI3K. Its expression is highest in skeletal muscle and heart. Activating mutations impair intrinsic GTPase activity, leading to sustained signaling and contributing to Noonan syndrome and multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRAS Knockout HEK293 Cell Line | EDJ-KQ713 | Human | 22808 | Details Get a Quote |
| MRAS Knockout A-549 Cell Line | EDJ-KQ19315 | Human | 22808 | Details Get a Quote |
| MRAS Knockout HCT 116 Cell Line | EDJ-KQ19316 | Human | 22808 | Details Get a Quote |
| MRAS Knockout HeLa Cell Line | EDJ-KQ19317 | Human | 22808 | Details Get a Quote |
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