Human Gene AGER (uc011hcz.2) Description and Page Index
  Description: Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 10, non-coding RNA.
RefSeq Summary (NM_001206936): The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:3,491,569-3,494,923 Size: 3,355 Total Exon Count: 9 Strand: -
Coding Region
   Position: chr6_mann_hap4:3,491,794-3,494,207 Size: 2,414 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: RAGE_HUMAN
DESCRIPTION: RecName: Full=Advanced glycosylation end product-specific receptor; AltName: Full=Receptor for advanced glycosylation end products; Flags: Precursor;
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.
SUBUNIT: Interacts with S100A1 and APP (By similarity). Interacts with S100B, S100A12 and S100A14. Constitutive homodimer; disulfide-linked.
INTERACTION: Self; NbExp=2; IntAct=EBI-1646426, EBI-1646426; P62993:GRB2; NbExp=2; IntAct=EBI-1646426, EBI-401755; P16333:NCK1; NbExp=2; IntAct=EBI-1646426, EBI-389883; P61586:RHOA; NbExp=2; IntAct=EBI-1646426, EBI-446668; P04271:S100B; NbExp=5; IntAct=EBI-1646426, EBI-458391; P25815:S100P; NbExp=2; IntAct=EBI-1646426, EBI-743700; P02766:TTR; NbExp=2; IntAct=EBI-1646426, EBI-711909;
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted.
TISSUE SPECIFICITY: Endothelial cells.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AGERID594ch6p21.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: AGER
CDC HuGE Published Literature: AGER
Positive Disease Associations: Alzheimer's disease , antioxidant status , diabetes, type 2 , diabetic retinopathy. , myocardial infarct stroke, ischemic , nephropathy in diabetes mellitus , non-small cell lung cancer , proteinuria and cardiovascular disease , Psoriasis , pulmonary function , Respiratory Function Tests , Stroke , Type 2 Diabetes (Retinopathy)
Related Studies:
  1. Alzheimer's disease
    Daborg J et al. 2010, Association of the RAGE G82S polymorphism with Alzheimer's disease., Journal of neural transmission (Vienna, Austria : 1996) 117(7) : 861-7 2010. [PubMed 20567859]
  2. antioxidant status
    Kankova K et al. 2001, Polymorphisms 1704G/T and 2184A/G in the RAGE gene are associated with antioxidant status., Metabolism: clinical and experimental. 2001 Oct;50(10):1152-60. [PubMed 11586486]
  3. diabetes, type 2
    Kankova K et al. 1999, Association of G82S polymorphism in the RAGE gene with skin complications in type 2 diabetes., Diabetes care. 1999 Oct;22(10):1745. [PubMed 10526746]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -236.40586-0.403 Picture PostScript Text
3' UTR -53.18225-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013162 - CD80_C2-set
IPR007110 - Ig-like_dom
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF08205 - CD80-like C2-set immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure

1PWI
- Model Chimera

2BJP
- Model Chimera

2E5E
- NMR Chimera LS-SNP
To conserve bandwidth, only the images from the first 3 structures are shown.
2ENS - NMR Chimera LS-SNP 2L7U - NMR Chimera 2LE9 - NMR Chimera
2LMB - NMR Chimera 3CJJ - X-ray Chimera LS-SNP 3O3U - X-ray Chimera LS-SNP
3S58 - X-ray Chimera 3S59 - X-ray Chimera 4LP4 - X-ray Chimera
4LP5 - X-ray Chimera
Chimera help

ModBase Predicted Comparative 3D Structure on Q15109
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
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-  Descriptions from all associated GenBank mRNAs
  M91211 - Human receptor for advanced glycosylation end products (RAGE) mRNA, partial cds.
AJ133822 - Homo sapiens mRNA for receptor for Advanced Glycation End Product, secreted isoform (RAGEsec gene).
AK298100 - Homo sapiens cDNA FLJ56412 complete cds, highly similar to Advanced glycosylation end product-specific receptor precursor.
BC020669 - Homo sapiens advanced glycosylation end product-specific receptor, mRNA (cDNA clone MGC:22357 IMAGE:4718076), complete cds.
HQ148134 - Homo sapiens RAGE isoform sRAGE-delta (AGER) mRNA, complete cds, alternatively spliced.
HQ148135 - Homo sapiens RAGE isoform NtRAGE-delta (AGER) mRNA, complete cds, alternatively spliced.
AB036432 - Homo sapiens RAGE mRNA for advanced glycation endproducts receptor, complete cds.
AB061668 - Homo sapiens RAGE mRNA for soluble form of receptor for advanced glycation endproducts, complete cds.
AB061669 - Homo sapiens RAGE mRNA for N-terminal truncated form of receptor for advanced glycation endproducts, complete cds.
FJ545655 - Homo sapiens advanced glycosylation end products transcript variant (AGER) mRNA, complete cds.
AY755619 - Homo sapiens receptor for advanced glycosylation end-products (AGER) mRNA, complete cds, alternatively spliced.
AY755620 - Homo sapiens receptor for advanced glycation end-products splice variant 1 (AGER) mRNA, complete cds, alternatively spliced.
AY755621 - Homo sapiens receptor for advanced glycosylation end-products intron 4 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755622 - Homo sapiens receptor for advanced glycosylation end-products intron 4&9 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755623 - Homo sapiens receptor for advanced glycosylation end-products deletion exon 8 and intron 9 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755624 - Homo sapiens receptor for advanced glycosylation end-products deletion exon 3 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755625 - Homo sapiens receptor for advanced glycosylation end-products deletion exon3-7 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755626 - Homo sapiens receptor for advanced glycosylation end-products deletion exon2-6 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755627 - Homo sapiens receptor for advanced glycosylation end-products deletion exon3-10 variant (AGER) mRNA, complete cds, alternatively spliced.
AY755628 - Homo sapiens receptor for advanced glycosylation end-products intron 9 and deletion exon 11 variant (AGER) mRNA, complete cds, alternatively spliced.
DQ104251 - Homo sapiens receptor for advanced glycation end-products (AGER) mRNA, complete cds, alternatively spliced.
DQ104252 - Homo sapiens receptor for advanced glycation end-products (AGER) mRNA, complete cds, alternatively spliced.
DQ104253 - Homo sapiens receptor for advanced glycation end-products (AGER) mRNA, complete cds, alternatively spliced.
DQ104254 - Homo sapiens receptor for advanced glycation end-products (AGER) mRNA, complete cds, alternatively spliced.
EU117141 - Homo sapiens receptor for advanced glycation end-products splice variant 8 (AGER) mRNA, complete cds, alternatively spliced.
HQ148133 - Homo sapiens RAGE isoform delta (AGER) mRNA, complete cds, alternatively spliced.
EU428811 - Homo sapiens advanced glycosylation end product-specific receptor variant CC (AGER) mRNA, complete cds, alternatively spliced.
EU428812 - Homo sapiens advanced glycosylation end product-specific receptor variant AA (AGER) mRNA, complete cds, alternatively spliced.
EU428813 - Homo sapiens advanced glycosylation end product-specific receptor variant BB (AGER) mRNA, complete cds, alternatively spliced.
EU428814 - Homo sapiens advanced glycosylation end product-specific receptor (AGER) mRNA, complete sequence, alternatively spliced.
EU428815 - Homo sapiens advanced glycosylation end product-specific receptor variant BB (AGER) mRNA, complete cds, alternatively spliced.
AK313178 - Homo sapiens cDNA, FLJ93677, Homo sapiens advanced glycosylation end product-specific receptor(AGER), transcript variant 1, mRNA.
EU428816 - Homo sapiens advanced glycosylation end product-specific receptor (AGER) mRNA, complete sequence, alternatively spliced.
DQ893575 - Synthetic construct clone IMAGE:100006205; FLH176388.01X; RZPDo839C09122D advanced glycosylation end product-specific receptor (AGER) gene, encodes complete protein.
DQ896821 - Synthetic construct Homo sapiens clone IMAGE:100011281; FLH176384.01L; RZPDo839C09121D advanced glycosylation end product-specific receptor (AGER) gene, encodes complete protein.
AB527569 - Synthetic construct DNA, clone: pF1KB6647, Homo sapiens AGER gene for advanced glycosylation end product-specific receptor, without stop codon, in Flexi system.
AF536236 - Homo sapiens advanced glycosylation end product-specific receptor variant sRAGE1 (AGER) mRNA, partial cds, alternatively spliced.
AF536237 - Homo sapiens advanced glycosylation end product-specific receptor variant sRAGE2 (AGER) mRNA, partial cds, alternatively spliced.
AF537303 - Homo sapiens advanced glycosylation end product-specific receptor RAGE3 (AGER) mRNA, partial cds, alternatively spliced.
AX795281 - Sequence 4 from Patent WO03051383.
AX795282 - Sequence 5 from Patent WO03051383.
AX795283 - Sequence 6 from Patent WO03051383.
EU826618 - Homo sapiens soluble RAGE variant 3 (RAGE) mRNA, complete cds, alternatively spliced.
EU826619 - Homo sapiens soluble RAGE variant 4 (RAGE) mRNA, complete cds, alternatively spliced.
EU826617 - Homo sapiens soluble RAGE variant 2 (RAGE) mRNA, complete cds, alternatively spliced.
CU676626 - Synthetic construct Homo sapiens gateway clone IMAGE:100022253 5' read AGER mRNA.
EU826620 - Homo sapiens soluble RAGE variant 5 (RAGE) mRNA, complete cds, alternatively spliced.
EU826616 - Homo sapiens soluble RAGE variant 1 (RAGE) mRNA, complete cds, alternatively spliced.
GU139370 - Homo sapiens advanced glycosylation end product-specific receptor, variant 1-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139371 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 2 (AGER) mRNA, complete cds, alternatively spliced.
GU139372 - Homo sapiens advanced glycosylation end product-specific receptor, variant 3-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139373 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 4 (AGER) mRNA, complete cds, alternatively spliced.
GU139374 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 5 (AGER) mRNA, complete cds, alternatively spliced.
GU139375 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 6 (AGER) mRNA, complete cds, alternatively spliced.
GU139376 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 7 (AGER) mRNA, complete cds, alternatively spliced.
GU139377 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 8 (AGER) mRNA, complete cds, alternatively spliced.
GU139378 - Homo sapiens advanced glycosylation end product-specific receptor, splice variant 9 (AGER) mRNA, complete cds, alternatively spliced.
GU139379 - Homo sapiens advanced glycosylation end product-specific receptor, variant 10-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139380 - Homo sapiens advanced glycosylation end product-specific receptor, variant 11-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139381 - Homo sapiens advanced glycosylation end product-specific receptor, variant 12-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139382 - Homo sapiens advanced glycosylation end product-specific receptor, variant 13-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139383 - Homo sapiens advanced glycosylation end product-specific receptor, variant 14-like (AGER) mRNA, complete sequence, alternatively spliced.
GU139384 - Homo sapiens advanced glycosylation end product-specific receptor, variant 15-like (AGER) mRNA, complete sequence, alternatively spliced.
KC692917 - Homo sapiens receptor for advanced glycation end-products variant 20 (AGER) mRNA, complete cds, alternatively spliced.

-  Other Names for This Gene
  Alternate Gene Symbols: EU428816, NM_001206936, NP_001193865, Q3L1R6, Q3L1R6_HUMAN
UCSC ID: uc011hcz.2
RefSeq Accession: NM_001206936
Protein: Q15109 (aka RAGE_HUMAN