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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RHEB
Ras homolog, mTORC1 binding
Chromosome 7 Β· 7q36.1
NCBI Gene: 6009Ensembl: ENSG00000106615.11HGNC: HGNC:10011UniProt: A0A090N900
198PubMed Papers
20Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
magnesium ion bindingpositive regulation of TORC1 signalingprotein bindingGTP bindingisolated focal cortical dysplasia type IIneurodegenerative diseasedeficiency anemiaresponse to xenobiotic stimulus
✦AI Summary

RHEB (Ras homolog, mTORC1 binding) is a small GTPase that functions as a critical allosteric activator of mTORC1, a central nutrient sensor controlling cellular growth and metabolism 1. RHEB activation occurs in response to growth factors, nutrients, and amino acids, triggering a conformational change in mTOR that realigns active-site residues and accelerates phosphorylation of downstream substrates including RPS6KB1/2 and EIF4EBP1 1. Unlike Rag GTPases, which mediate amino acid signaling, RHEB primarily responds to growth factor stimuli and maintains mTORC1 localization to lysosomal compartments 2. During nutrient starvation, the TSC-TBC complex inactivates RHEB, preventing mTORC1 activation 3. Dysregulation of RHEB contributes to several pathologies: somatic gain-of-function RHEB mutations cause focal cortical dysplasia type II and hemimegalencephaly through mTOR hyperactivation, leading to drug-resistant epilepsy 45. RHEB deletion in myeloid cells suppresses mTORC1 and enhances M2 macrophage polarization, alleviating experimental osteoarthritis 3. These findings establish RHEB as a key metabolic signaling node and potential therapeutic target in mTOR-related developmental and inflammatory disorders.

Sources cited
1
RHEB binding to mTOR causes allosteric conformational change that realigns active-site residues and accelerates phosphorylation of RPS6KB and EIF4EBP1
PMID: 29236692
2
RHEB activates mTORC1 by promoting intracellular localization to lysosomal compartments, distinct from Rag GTPase-mediated amino acid signaling
PMID: 18497260
3
RHEB deletion in myeloid lineage inhibits mTORC1, enhances M2 polarization, and alleviates collagenase-induced osteoarthritis
PMID: 29991473
4
Somatic gain-of-function RHEB variants cause focal cortical dysplasia type II and hemimegalencephaly through mTOR hyperactivation
PMID: 31444548
5
RHEB mutations are among mTOR pathway activators linked to epilepsy and cortical malformations in the mTORopathy spectrum
PMID: 37149062
Disease Associationsβ“˜20
isolated focal cortical dysplasia type IIOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.29Weak
deficiency anemiaOpen Targets
0.28Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
hemimegalencephalyOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
poisoningOpen Targets
0.26Weak
coronary artery diseaseOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.21Weak
mathematical abilityOpen Targets
0.17Weak
goutOpen Targets
0.17Weak
hypertensionOpen Targets
0.16Weak
chronic kidney diseaseOpen Targets
0.16Weak
essential hypertensionOpen Targets
0.15Weak
kidney failureOpen Targets
0.15Weak
anemia (phenotype)Open Targets
0.14Weak
kidney diseaseOpen Targets
0.14Weak
hypertensive heart diseaseOpen Targets
0.13Weak
nephrolithiasisOpen Targets
0.12Weak
SeizureOpen Targets
0.12Weak
Pathogenic Variants6
NM_005614.4(RHEB):c.202T>C (p.Ser68Pro)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 68
NM_005614.4(RHEB):c.110C>T (p.Pro37Leu)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 37
NM_005614.4(RHEB):c.104_105delinsTA (p.Tyr35Leu)Pathogenic
Isolated focal cortical dysplasia type II
β˜…β˜†β˜†β˜†2024β†’ Residue 35
NM_005614.4(RHEB):c.104A>C (p.Tyr35Ser)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 35
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 35
NM_005614.4(RHEB):c.119A>T (p.Glu40Val)Likely pathogenic
Hemimegalencephaly
β˜…β˜†β˜†β˜†β†’ Residue 40
View on ClinVar β†—
Related Genes
EIF4EBP1Protein interaction100%FKBP1AProtein interaction100%PRKAA2Protein interaction100%ULK1Protein interaction100%ATG13Protein interaction100%TBC1D7Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
60%
Lung
53%
Bone Marrow
48%
Ovary
47%
Heart
43%
Gene Interaction Network
Click a node to explore
RHEBEIF4EBP1FKBP1APRKAA2ULK1ATG13TBC1D7
PROTEIN STRUCTURE
Preparing viewer…
PDB6BSX Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.92LoF Tolerant
pLIβ“˜
0.13Tolerant
Observed/Expected LoF1.66 [0.33–1.92]
RankingsWhere RHEB stands among ~20K protein-coding genes
  • #2,145of 20,598
    Most Researched198 Β· top quartile
  • #3,310of 5,498
    Most Pathogenic Variants6
  • #17,410of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedRHEB
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Synovial macrophage M1 polarisation exacerbates experimental osteoarthritis partially through R-spondin-2.
PMID: 29991473
Ann Rheum Dis Β· 2018
1.00
2
mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
PMID: 37149062
Neurobiol Dis Β· 2023
0.90
3
Mechanisms of mTORC1 activation by RHEB and inhibition by PRAS40.
PMID: 29236692
Nature Β· 2017
0.80
4
The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1.
PMID: 18497260
Science Β· 2008
0.70
5
TOR signaling.
PMID: 14668532
Sci STKE Β· 2003
0.68