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ENSG00000206320 Gene

protein-coding   GIFtS: 17
GCID: GC06Mn32106          (predicted)

ENSG00000206320


  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RAGE3
Receptor For Advanced Glycosylation End Products3

External Ids:    Ensembl: ENSG000002063207   UniProtKB: Q151093   

Export aliases for ENSG00000206320 gene to outside databases

Previous GC identifer: GC06Mf32249


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000206320 Gene:
ENSG00000206320 is a protein-coding gene. Diseases associated with ENSG00000206320 include diabetic retinopathy, and myocardial infarction.

UniProtKB/Swiss-Prot: RAGE_HUMAN, Q15109
Function: Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically
glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts
as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in
particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the
production/expression of TNF-alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction
with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with
generation of key proinflammatory mediators. Interaction with S100B after myocardial infarction may play a role
in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Receptor for amyloid beta
peptide. Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the
extracellular to the intracellular space in cortical neurons. ABPP-initiated RAGE signaling, especially
stimulation of p38 mitogen-activated protein kinase (MAPK), has the capacity to drive a transport system
delivering ABPP as a complex with RAGE to the intraneuronal space. Can also bind oligonucleotides




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000206320
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ENSG00000206320 promoter sequence
   Search Chromatin IP Primers for ENSG00000206320

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000206320


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_QBLp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mn32106:       (about GC identifiers)

Start:
32,106,368 bp from start of contig ALT_REF_LOCI_6      End:
32,109,724 bp from start of contig ALT_REF_LOCI_6
Size:
3,357 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RAGE_HUMAN, Q15109 (See protein sequence)
Recommended Name: Advanced glycosylation end product-specific receptor precursor  
Size: 404 amino acids; 42803 Da
Subunit: Interacts with S100A1 and APP (By similarity). Interacts with S100B, S100A12 and S100A14. Constitutive
homodimer; disulfide-linked
Selected PDB 3D structures from and Proteopedia for ENSG00000206320 (see all 13):
1PWI (3D)        2BJP (3D)        2E5E (3D)        2ENS (3D)        2L7U (3D)        2LE9 (3D)    
Secondary accessions: A2BFI7 A6NKF0 A7Y2U9 B0V176 Q15279 Q3L1R4 Q3L1R5 Q3L1R6 Q3L1R7 Q3L1R8
Q3L1S0 Q86SN1 Q9H2X7 Q9Y3R3
Alternative splicing: 9 isoforms:  Q15109-1   Q15109-2   Q15109-3   Q15109-4   Q15109-5   Q15109-6   Q15109-7   Q15109-8   
Q15109-9   

Explore the universe of human proteins at neXtProt for ENSG00000206320: NX_Q15109

Explore proteomics data for ENSG00000206320 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000206320 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000372766   ENSP00000372762   ENSP00000401068   ENSP00000395578   ENSP00000411203  
     ENSP00000449037   ENSP00000449368   ENSP00000449506   ENSP00000449226   ENSP00000448579  
     ENSP00000450205  
    Reactome Protein details: Q15109

    ENSG00000206320 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR013162 CD80_C2-set
     IPR003006 Ig/MHC_CS
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q15109

    ProtoNet protein and cluster: Q15109

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013162 CD80-like C2-set immunoglobulin


    UniProtKB/Swiss-Prot: RAGE_HUMAN, Q15109
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    ENSG00000206320 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAGE_HUMAN, Q15109
    Function: Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically
    glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts
    as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in
    particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the
    production/expression of TNF-alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction
    with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with
    generation of key proinflammatory mediators. Interaction with S100B after myocardial infarction may play a role
    in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Receptor for amyloid beta
    peptide. Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the
    extracellular to the intracellular space in cortical neurons. ABPP-initiated RAGE signaling, especially
    stimulation of p38 mitogen-activated protein kinase (MAPK), has the capacity to drive a transport system
    delivering ABPP as a complex with RAGE to the intraneuronal space. Can also bind oligonucleotides

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0004888transmembrane signaling receptor activity ----
    GO:0005515protein binding ----
    GO:0042802identical protein binding ----
    GO:0044548S100 protein binding ----
         
    ENSG00000206320 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAGE_HUMAN, Q15109: Isoform 1: Cell membrane; Single-pass type I membrane protein
    RAGE_HUMAN, Q15109: Isoform 2: Secreted

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane ----
    GO:0016020membrane ----

    ENSG00000206320 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathways by sourceSee SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ENSG00000206320
        HMGB1 Pathway

    5 Reactome Pathways for ENSG00000206320
        DEx/H-box helicases activate type I IFN and inflammatory cytokines production
    Advanced glycosylation endproduct receptor signaling
    RIP-mediated NFkB activation via ZBP1
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex
    TRAF6 mediated NF-kB activation



    ENSG00000206320 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000206320
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000206320

    Selected Interacting proteins for ENSG00000206320 (Q151091, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    S100BP042711, 2, 3EBI-1646426,EBI-458391 MINT-5224202 MINT-5224259 MINT-5224222 MINT-5224235 I2D: score=2 
    TTRP027661, 2, 3EBI-1646426,EBI-711909 MINT-2635425 MINT-2635447 I2D: score=2 
    RHOAP615861, 2, 3EBI-1646426,EBI-446668 MINT-7301186 MINT-7301204 I2D: score=1 
    S100PP258151, 3EBI-1646426,EBI-743700 I2D: score=3 
    GRB2P629931, 3EBI-1646426,EBI-401755 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response ----
    GO:0007166cell surface receptor signaling pathway ----
    GO:0009611response to wounding ----
    GO:0031175neuron projection development ----
    GO:0045087innate immune response ----

    ENSG00000206320 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for ENSG00000206320 (RAGE)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469751 ENST00000497583 ENST00000468699 ENST00000383279 ENST00000383275(uc011ivr.2 uc011ivn.2 uc021zuv.1 uc011ivw.2 uc011ivv.2 uc011ivm.2)
    ENST00000462045(uc021zuq.1 uc021zur.1 uc021zus.1 uc021zut.1 uc021zuu.1 uc011ivk.2 uc011ivj.2 uc011ivi.2)
    ENST00000451115(uc011ivp.2 uc011ivs.2 uc011ivu.2 uc011ivq.2 uc011ivo.2 uc011ivl.2 uc011ivt.2)
    ENST00000415973 ENST00000453119 ENST00000548034 ENST00000549168 ENST00000549776
    ENST00000551254 ENST00000547328 ENST00000550854
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    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000206320 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000206320 Protein Expression

    UniProtKB/Swiss-Prot: RAGE_HUMAN, Q15109
    Tissue specificity: Endothelial cells

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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      --

    ENSEMBL Gene Tree for ENSG00000206320 (if available)
    TreeFam Gene Tree for ENSG00000206320 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    6 diseases for ENSG00000206320:    
    About MalaCards
    diabetic retinopathy    myocardial infarction    atherosclerosis    alzheimer's disease
    endotheliitis    neuronitis


    ENSG00000206320 for disorders           About GeneDecksing


    Export disorders for ENSG00000206320 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ENSG00000206320 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with ENSG00000206320)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disulfide bonds within the C2 domain of RAGE play key roles in its dimerization and biogenesis. (PubMed id 23284645)2 Wei W....Lin L. (PLoS ONE 2012)
    2. Advanced glycation end product recognition by the receptor for AGEs. (PubMed id 21565706)2 Xue J.... Shekhtman A. (Structure 2011)
    3. S100A14 stimulates cell proliferation and induces cell apoptosis at different concentrations via receptor for advanced glycation end products (RAGE). (PubMed id 21559403)2 Jin Q.... Liu Z. (PLoS ONE 2011)
    4. The 1.5 A crystal structure of human receptor for advanced glycation endproducts (RAGE) ectodomains reveals unique features determining ligand binding. (PubMed id 20943659)2 Park H.... Boyington J.C. (J. Biol. Chem. 2010)
    5. Structural basis for ligand recognition and activation of RAGE. (PubMed id 20947022)2 Koch M.... Fritz G. (Structure 2010)
    6. RAGE-dependent signaling in microglia contributes to neuroinflammation, Abeta accumulation, and impaired learning/memory in a mouse model of Alzheimer's disease. (PubMed id 19906677)2 Fang F.... Yan S.S. (FASEB J. 2010)
    7. Both Ca2+ and Zn2+ are essential for S100A12 protein oligomerization and function. (PubMed id 19386136)2 Moroz O.V.... Bronstein I.B. (BMC Biochem. 2009)
    8. Identification, classification, and expression of RAGE gene splice variants. (PubMed id 18089847)2 Hudson B.I.... Schmidt A.M. (FASEB J. 2008)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Ensembl:ENSG00000206320

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for ENSG00000206320 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000206320 gene:
    Search GeneIP for patents involving ENSG00000206320

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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