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Aliases for RHEB Gene

Aliases for RHEB Gene

  • Ras Homolog Enriched In Brain 2 3 4 5
  • Ras Homolog Enriched In Brain 2 2 3
  • RHEB2 3 4

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 Enriched In Brain) is a Protein Coding gene. Diseases associated with RHEB include tuberous sclerosis. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RASL12.

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

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

Genomics for RHEB Gene

Regulatory Elements for RHEB Gene

Promoters for RHEB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RHEB on UCSC Golden Path with GeneCards custom track

Genomic Location for RHEB Gene

Chromosome:
7
Start:
151,466,012 bp from pter
End:
151,520,120 bp from pter
Size:
54,109 bases
Orientation:
Minus strand

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

Proteomics data for RHEB Gene at MOPED

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 Lys 109, Lys 135, Lys 151, and Lys 169
  • Modification sites at PhosphoSitePlus

Other Protein References for RHEB Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RHEB (RHEB)

No data available for DME Specific Peptides for RHEB Gene

Domains & Families for RHEB Gene

Gene Families for RHEB Gene

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.
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RHEB Gene COMPARTMENTS Subcellular localization image for RHEB gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 4
endoplasmic reticulum 3
mitochondrion 3
nucleus 3
endosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RHEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with RHEB: view

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:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0032008 positive regulation of TOR signaling IEA,IMP 20381137
GO:2000074 regulation of type B pancreatic cell development IMP 19258434
genes like me logo Genes that share ontologies with RHEB: view

Drugs & Compounds for RHEB Gene

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

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

(3) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, MOPED, and MaxQB for RHEB Gene



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.
genes like me logo Genes that share expression patterns with RHEB: view

Protein tissue co-expression partners for RHEB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia RHEB 35
  • 94.38 (n)
  • 98.91 (a)
RHEB 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHEB 35
  • 94.93 (n)
  • 99.46 (a)
RHEB 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rheb 35
  • 92.57 (n)
  • 98.91 (a)
Rheb 16
Rheb 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RHEB 35
  • 99.82 (n)
  • 100 (a)
RHEB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rheb 35
  • 91.67 (n)
  • 99.46 (a)
chicken
(Gallus gallus)
Aves RHEB 35
  • 88.42 (n)
  • 98.8 (a)
lizard
(Anolis carolinensis)
Reptilia RHEB 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rheb 35
  • 83.7 (n)
  • 92.93 (a)
Str.2304 35
African clawed frog
(Xenopus laevis)
Amphibia rheb-prov 35
zebrafish
(Danio rerio)
Actinopterygii zgc73144 35
zgc:73144 35
  • 79.71 (n)
  • 90.76 (a)
rheb 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rheb 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rheb-1 35
  • 50.1 (n)
  • 43.93 (a)
rheb-1 36
  • 38 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11330g 35
  • 54.12 (n)
  • 44.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RHB1 35
  • 51.12 (n)
  • 40.45 (a)
RHB1 36
  • 34 (a)
OneToMany
RHB1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1999 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01444 35
  • 55.37 (n)
  • 51.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rhb1 35
  • 56.16 (n)
  • 52.17 (a)
Species with no ortholog for RHEB:
  • 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

Paralogs for RHEB Gene

Pseudogenes.org Pseudogenes for RHEB Gene

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

Variants for RHEB Gene

Sequence variations from dbSNP and Humsavar for RHEB Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_036310 A colorectal cancer sample
rs10841 -- 151,466,820(-) AATGT(A/T)ATCAT utr-variant-3-prime
rs717775 -- 151,469,166(+) TGTTT(A/C)ATCAG intron-variant
rs758666 -- 151,511,244(-) AATAA(C/T)TACCT intron-variant
rs965118 -- 151,481,337(-) TATTT(A/T)CTACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv6006 CNV Insertion 18451855
nsv831189 CNV Gain 17160897
nsv824394 CNV Gain 20364138
nsv818570 CNV Gain 17921354

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)

Relevant External Links for RHEB Gene

HapMap Linkage Disequilibrium report
RHEB

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

Disorders for RHEB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tuberous sclerosis
  • bourneville's disease
- elite association - COSMIC cancer census association via MalaCards
Search RHEB in MalaCards View complete list of genes associated with diseases

Relevant External Links for RHEB

Genetic Association Database (GAD)
RHEB
Human Genome Epidemiology (HuGE) Navigator
RHEB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHEB
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. 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 67
  2. Rheb GTPase controls apoptosis by regulating interaction of FKBP38 with Bcl-2 and Bcl-XL. (PMID: 20048149) Ma D. … Jiang Y. (J. Biol. Chem. 2010) 3 23
  3. The late endosome is essential for mTORC1 signaling. (PMID: 20053679) Flinn R.J. … Backer J.M. (Mol. Biol. Cell 2010) 3 23
  4. Regulation of androgen receptor transactivity and mTOR-S6 kinase pathway by Rheb in prostate cancer cell proliferation. (PMID: 20127734) Kobayashi T. … Inoue T. (Prostate 2010) 3 23
  5. Mammalian target of rapamycin activator RHEB is frequently overexpressed in human carcinomas and is critical and sufficient for skin epithelial carcinogenesis. (PMID: 20388784) Lu Z.H. … Arbeit J.M. (Cancer Res. 2010) 3 23

Products for RHEB Gene

Sources for RHEB Gene

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