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Aliases for RHEB Gene

Aliases for RHEB Gene

  • Ras Homolog, MTORC1 Binding 2 3 5
  • Ras Homolog Enriched In Brain 2 2 3
  • Ras Homolog Enriched In Brain 2 4
  • RHEB2 3 4
  • GTP-Binding Protein Rheb 3

External Ids for RHEB Gene

Previous HGNC Symbols for RHEB Gene

  • RHEB2

Previous GeneCards Identifiers for RHEB Gene

  • GC07M150478
  • GC07M150555
  • GC07M150554
  • GC07M150600
  • GC07M150794
  • GC07M151163
  • GC07M144974

Summaries for RHEB Gene

Entrez Gene Summary for RHEB Gene

  • This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]

GeneCards Summary for RHEB Gene

RHEB (Ras Homolog, MTORC1 Binding) is a Protein Coding gene. Diseases associated with RHEB include Tuberous Sclerosis and Kidney Angiomyolipoma. Among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RHEBL1.

UniProtKB/Swiss-Prot for RHEB Gene

  • Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity.

Gene Wiki entry for RHEB Gene

Additional gene information for RHEB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHEB Gene

Genomics for RHEB Gene

GeneHancer (GH) Regulatory Elements for RHEB Gene

Promoters and enhancers for RHEB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I151517 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 560 +0.8 793 3.8 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF213 RHEB NUB1 ENSG00000244151 CHPF2 KMT2C ETF1P2
GH07I151685 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.4 -168.5 -168506 5.4 SIN3A GLIS2 ELK1 FOS ATF7 SMARCB1 SREBF1 MAFF SMARCA4 GLIS1 RHEB LOC644090 PRKAG2 GC07M151668 GC07M151708 PIR46081
GH07I151365 Enhancer 1.1 Ensembl ENCODE 11.1 +153.0 152954 3.5 HDGF ATF1 ZNF2 ZNF48 YY1 ARID2 ZNF207 ZNF143 FOS ATF7 GC07M151365 WDR86 WDR86-AS1 CRYGN ENSG00000241456 RHEB SMARCD3 ENSG00000243018 NUB1 GC07P151348
GH07I151456 Enhancer 1.4 FANTOM5 Ensembl ENCODE 8.4 +60.8 60780 6.2 SIN3A FEZF1 ZNF2 ZNF766 GLIS2 RXRA PPARG ZNF592 SREBF1 MAFF ENSG00000241456 SMARCD3 CRYGN RHEB GC07M151465
GH07I151550 Enhancer 0.8 Ensembl ENCODE 12.6 -30.7 -30746 1 FOXA2 NFIA ZSCAN4 OSR2 ZSCAN23 ZSCAN21 HNF1A ZNF692 KLF7 WT1 RHEB CRYGN PRKAG2 LOC644090 GIMAP4 GC07M151535 PIR60573
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHEB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHEB gene promoter:

Genomic Locations for RHEB Gene

Genomic Locations for RHEB Gene
chr7:151,466,012-151,520,120
(GRCh38/hg38)
Size:
54,109 bases
Orientation:
Minus strand
chr7:151,163,098-151,217,206
(GRCh37/hg19)

Genomic View for RHEB Gene

Genes around RHEB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHEB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHEB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHEB Gene

Proteins for RHEB Gene

  • Protein details for RHEB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15382-RHEB_HUMAN
    Recommended name:
    GTP-binding protein Rheb
    Protein Accession:
    Q15382
    Secondary Accessions:
    • B3KWN6
    • D3DX13
    • Q53Y56
    • Q99444

    Protein attributes for RHEB Gene

    Size:
    184 amino acids
    Molecular mass:
    20497 Da
    Quaternary structure:
    • Binds to mTORC1 in a guanyl nucleotide-independent manner. Interacts directly with MTOR, MLST8 and RPTOR. Interacts with TSC2. Interacts (when prenylated) with PDE6D; this promotes release from membranes.
    Miscellaneous:
    • The conserved catalytic Gln-64 found in other Ras-like GTPases seems not to be involved in GTP hydrolysis in RHEB.

    Three dimensional structures from OCA and Proteopedia for RHEB Gene

neXtProt entry for RHEB Gene

Post-translational modifications for RHEB Gene

  • Farnesylation is important for efficiently activating mTORC1-mediated signaling.
  • Phosphorylation by MAPKAPK5 impairs GTP-binding and inactivation.
  • Ubiquitination at Lys109, isoforms=135, isoforms=151, and Lys169

Other Protein References for RHEB Gene

No data available for DME Specific Peptides for RHEB Gene

Domains & Families for RHEB Gene

Gene Families for RHEB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RHEB Gene

Graphical View of Domain Structure for InterPro Entry

Q15382

UniProtKB/Swiss-Prot:

RHEB_HUMAN :
  • Belongs to the small GTPase superfamily. Rheb family.
Family:
  • Belongs to the small GTPase superfamily. Rheb family.
genes like me logo Genes that share domains with RHEB: view

Function for RHEB Gene

Molecular function for RHEB Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Alternates between an inactive form bound to GDP and an active form bound to GTP. Inactivated by TSC1-TSC2 via the GTPase activating protein (GAP) domain of TSC2.
UniProtKB/Swiss-Prot Function:
Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity.

Phenotypes From GWAS Catalog for RHEB Gene

Gene Ontology (GO) - Molecular Function for RHEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IMP 15728574
GO:0003924 GTPase activity TAS,IEA --
GO:0005515 protein binding IPI 17301792
GO:0005525 GTP binding IEA,ISS --
genes like me logo Genes that share ontologies with RHEB: view
genes like me logo Genes that share phenotypes with RHEB: view

Animal Models for RHEB Gene

MGI Knock Outs for RHEB:

Animal Model Products

miRNA for RHEB Gene

Clone Products

  • Addgene plasmids for RHEB

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHEB Gene

Localization for RHEB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHEB Gene

Endomembrane system; Lipid-anchor; Cytoplasmic side. Golgi apparatus membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytosol. Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHEB gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
golgi apparatus 4
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
endosome 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RHEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with RHEB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHEB Gene

Pathways & Interactions for RHEB Gene

genes like me logo Genes that share pathways with RHEB: view

SIGNOR curated interactions for RHEB Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RHEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007050 cell cycle arrest TAS --
GO:0007165 signal transduction IEA --
GO:0016241 regulation of macroautophagy TAS --
GO:0032006 regulation of TOR signaling IEA --
GO:0032008 positive regulation of TOR signaling IEA,IMP 20381137
genes like me logo Genes that share ontologies with RHEB: view

Drugs & Compounds for RHEB Gene

(6) Drugs for RHEB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma Target 0
Guanosine diphosphate Experimental Pharma Target 0

(2) Additional Compounds for RHEB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHEB: view

Transcripts for RHEB Gene

Unigene Clusters for RHEB Gene

Ras homolog enriched in brain:
Representative Sequences:

Clone Products

  • Addgene plasmids for RHEB

Alternative Splicing Database (ASD) splice patterns (SP) for RHEB Gene

No ASD Table

Relevant External Links for RHEB Gene

GeneLoc Exon Structure for
RHEB
ECgene alternative splicing isoforms for
RHEB

Expression for RHEB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHEB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RHEB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RHEB Gene



Protein tissue co-expression partners for RHEB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHEB Gene:

RHEB

SOURCE GeneReport for Unigene cluster for RHEB Gene:

Hs.283521

mRNA Expression by UniProt/SwissProt for RHEB Gene:

Q15382-RHEB_HUMAN
Tissue specificity: Ubiquitous. Highest levels observed in skeletal and cardiac muscle.

Evidence on tissue expression from TISSUES for RHEB Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Skin(4.5)
  • Lung(3.1)
  • Kidney(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with RHEB: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHEB Gene

Orthologs for RHEB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RHEB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHEB 33 34
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia RHEB 33 34
  • 94.93 (n)
cow
(Bos Taurus)
Mammalia RHEB 33 34
  • 94.38 (n)
mouse
(Mus musculus)
Mammalia Rheb 33 16 34
  • 92.57 (n)
rat
(Rattus norvegicus)
Mammalia Rheb 33
  • 91.67 (n)
chicken
(Gallus gallus)
Aves RHEB 33
  • 88.42 (n)
lizard
(Anolis carolinensis)
Reptilia RHEB 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rheb 33
  • 83.7 (n)
Str.2304 33
African clawed frog
(Xenopus laevis)
Amphibia rheb-prov 33
zebrafish
(Danio rerio)
Actinopterygii rheb 34
  • 86 (a)
OneToOne
zgc:73144 33
  • 79.71 (n)
zgc73144 33
fruit fly
(Drosophila melanogaster)
Insecta Rheb 34
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rheb-1 33 34
  • 50.1 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11330g 33
  • 54.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RHB1 33 34 36
  • 51.12 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rhb1 33
  • 56.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01444 33
  • 55.37 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1999 33
Species where no ortholog for RHEB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHEB Gene

ENSEMBL:
Gene Tree for RHEB (if available)
TreeFam:
Gene Tree for RHEB (if available)

Paralogs for RHEB Gene

Variants for RHEB Gene

Sequence variations from dbSNP and Humsavar for RHEB Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1057519949 likely-pathogenic, Malignant neoplasm of body of uterus, Renal cell carcinoma, Papillary renal cell carcinoma, sporadic, Transitional cell carcinoma of the bladder 151,490,964(-) A/T coding_sequence_variant, missense_variant
rs1057519950 likely-pathogenic, Renal cell carcinoma, Malignant neoplasm of body of uterus, Papillary renal cell carcinoma, sporadic, Transitional cell carcinoma of the bladder 151,490,963(-) T/A/C coding_sequence_variant, missense_variant
VAR_036310 A colorectal cancer sample p.Glu139Lys
rs1000119426 -- 151,476,520(-) C/A intron_variant
rs1000133483 -- 151,495,701(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RHEB Gene

Variant ID Type Subtype PubMed ID
nsv970970 CNV duplication 23825009
nsv831189 CNV gain 17160897
nsv824394 CNV gain 20364138
nsv818570 CNV gain 17921354
nsv6006 CNV insertion 18451855
nsv471954 CNV novel sequence insertion 20440878
nsv1151906 OTHER inversion 26484159
nsv1126820 CNV deletion 24896259
nsv1122179 CNV deletion 24896259
nsv1067934 OTHER inversion 25765185
esv3615482 CNV loss 21293372
esv3615481 CNV gain 21293372
dgv3695n106 OTHER inversion 24896259

Variation tolerance for RHEB Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHEB Gene

Human Gene Mutation Database (HGMD)
RHEB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHEB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHEB Gene

Disorders for RHEB Gene

MalaCards: The human disease database

(2) MalaCards diseases for RHEB Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tuberous sclerosis
  • tuberous sclerosis 1
kidney angiomyolipoma
  • angiomyolipoma of kidney
- elite association - COSMIC cancer census association via MalaCards
Search RHEB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHEB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RHEB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHEB Gene

Publications for RHEB Gene

  1. Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1. (PMID: 16098514) Tee AR … Proud CG (FEBS letters 2005) 3 4 22 58
  2. Rheb binds and regulates the mTOR kinase. (PMID: 15854902) Long X … Avruch J (Current biology : CB 2005) 3 4 22 58
  3. Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. (PMID: 15340059) Li Y … Guan KL (Molecular and cellular biology 2004) 3 4 22 58
  4. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. (PMID: 12869586) Inoki K … Guan KL (Genes & development 2003) 3 4 22 58
  5. Isolation of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7, 7q36. (PMID: 8661031) Mizuki N … Inoko H (Genomics 1996) 2 3 4 58

Products for RHEB Gene

Sources for RHEB Gene

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