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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RRAS2
RAS related 2
Chromosome 11 · 11p15.2
NCBI Gene: 22800Ensembl: ENSG00000133818.15HGNC: HGNC:17271UniProt: P62070
105PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activityprotein bindingosteoblast differentiationRas protein signal transductionNoonan syndromenoonan syndrome 12vitamin D deficiencygenetic disorder
✦AI Summary

RRAS2 is a RAS-related small GTPase that functions as a GTP-binding protein with GTPase activity, primarily regulating the RAS-MAPK signaling pathway to control cellular processes including craniofacial development 1. RRAS2 interacts with phosphoinositide 3-kinase α (PI3Kα) through its RAS-binding domain, with this interaction crucial for PI3K-AKT-mTOR pathway activation 2. In vascular smooth muscle cells, RRAS2 preserves homeostasis by maintaining GTF2I phosphorylation and nuclear translocation to sustain contractile gene expression, preventing pathological phenotypic switching 3. Germline RRAS2 mutations cause Noonan syndrome 12, characterized by facial dysmorphism, short stature, cardiac defects, and developmental delay 1. In cancer, RRAS2 exhibits oncogenic roles through distinct mechanisms: wild-type RRAS2 overexpression drives triple-negative breast cancer in pregnancy-dependent manner, occurring in 68% of breast tumors 4, while specific hotspot mutations (Q72L) activate MAPK and PI3K pathways and represent actionable drivers in ~0.45% of lung cancers 5. RRAS2 mutations also appear as recurrent hotspots across 41 cancer types 6, and RRAS2 serves as a potential biomarker for cetuximab response prediction in colorectal cancer 7. Therapeutic approaches include molecular glues enhancing PI3Kα-RRAS2 binding for insulin-independent glucose uptake in diabetes 8 and pan-RAS inhibitors targeting mutant RRAS2-driven cancers.

Sources cited
1
RRAS2 mutations cause Noonan syndrome with distinctive facial dysmorphism, short stature, and cardiac defects through RAS-MAPK pathway dysregulation
PMID: 36460282
2
RRAS2 binds PI3Kα catalytic subunit p110α through RAS-binding domain, essential for PI3K-AKT-mTOR pathway activation
PMID: 39788953
3
RRAS2 maintains vascular smooth muscle cell homeostasis via GTF2I phosphorylation and prevents abdominal aortic aneurysm development
PMID: 41145483
4
Wild-type RRAS2 overexpression (not mutations) drives triple-negative breast cancer in pregnancy-dependent manner, occurring in 68% of breast tumors
PMID: 38987766
5
RRAS2 Q72L mutations activate MAPK and PI3K-mTOR pathways, represent actionable drivers in ~0.45% of lung cancers, and respond to pan-RAS inhibitors
PMID: 41292901
6
RRAS2 contains recurrent mutational hotspots across 41 cancer types, indicating widespread selective pressure
PMID: 26619011
7
RRAS2 serves as potential biomarker for cetuximab therapy response prediction in colorectal cancer
PMID: 38302471
8
Molecular glues enhance PI3Kα binding affinity to RRAS2 three orders of magnitude, promoting insulin-independent glucose uptake in diabetes models
PMID: 40705882
Disease Associationsⓘ22
Noonan syndromeOpen Targets
0.78Strong
noonan syndrome 12Open Targets
0.69Moderate
vitamin D deficiencyOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
vitamin deficiency disorderOpen Targets
0.46Moderate
ovarian cancerOpen Targets
0.45Moderate
hypertrophic cardiomyopathyOpen Targets
0.43Moderate
endometrial cancerOpen Targets
0.40Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
pancreatic neuroendocrine tumorOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
ovarian neoplasmOpen Targets
0.33Weak
Noonan syndrome 12UniProt
Ovarian cancerUniProt
Pathogenic Variants11
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)Pathogenic
Noonan syndrome 12|Ovarian neoplasm|Noonan syndrome
★★★☆2024→ Residue 72
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)Likely pathogenic
Noonan syndrome|Noonan syndrome 12|RRAS2-related disorder|RASopathy|not provided
★★★☆2024→ Residue 70
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)Pathogenic
Noonan syndrome|Noonan syndrome 12|Inborn genetic diseases|not provided
★★☆☆2025→ Residue 24
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)Pathogenic
Noonan syndrome|not provided|Inborn genetic diseases|Germinoma
★★☆☆2025→ Residue 23
NM_012250.6(RRAS2):c.71G>A (p.Gly24Asp)Pathogenic
not provided|Adenocarcinoma of the large intestine|Noonan syndrome 12
★★☆☆2025→ Residue 24
NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys)Pathogenic
not provided|Noonan syndrome|Germinoma
★★☆☆2024→ Residue 23
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp)Pathogenic
Noonan syndrome 12|not provided|Central nervous system germ cell tumor
★★☆☆2023→ Residue 23
NM_012250.6(RRAS2):c.68G>C (p.Gly23Ala)Pathogenic
not provided
★☆☆☆2025→ Residue 23
NM_012250.6(RRAS2):c.212G>A (p.Gly71Glu)Likely pathogenic
not provided
★☆☆☆2021→ Residue 71
NM_012250.6(RRAS2):c.62_73dup (p.Gly21_Gly24dup)Likely pathogenic
not provided
★☆☆☆2021→ Residue 21
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)Pathogenic
Noonan syndrome
★☆☆☆2019→ Residue 22
View on ClinVar ↗
Related Genes
PIK3R1Protein interaction100%PIK3CBProtein interaction100%RASSF5Protein interaction97%SOS1Protein interaction94%SOS2Protein interaction94%RASGRP1Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Liver
88%
Lung
69%
Ovary
50%
Brain
21%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
RRAS2PIK3R1PIK3CBRASSF5SOS1SOS2RASGRP1
PROTEIN STRUCTURE
Preparing viewer…
PDB9B4Q · 1.46 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.63 [0.34–1.25]
RankingsWhere RRAS2 stands among ~20K protein-coding genes
  • #4,558of 20,598
    Most Researched105 · top quartile
  • #2,753of 5,498
    Most Pathogenic Variants11
  • #13,143of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedRRAS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID: 26619011
Nat Biotechnol · 2016
1.00
2
Molecular glues that facilitate RAS binding to PI3Kα promote glucose uptake without insulin.
PMID: 40705882
Science · 2025
0.90
3
Ras-related protein 2 limits vascular smooth muscle cell phenotypic switching and abdominal aortic aneurysm development.
PMID: 41145483
Nat Commun · 2025
0.80
4
Structural insights into isoform-specific RAS-PI3Kα interactions and the role of RAS in PI3Kα activation.
PMID: 39788953
Nat Commun · 2025
0.70
5
Unmutated RRAS2 emerges as a key oncogene in post-partum-associated triple negative breast cancer.
PMID: 38987766
Mol Cancer · 2024
0.60