Human Gene AGER (uc011eqh.2)
  Description: Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 4, mRNA.
RefSeq Summary (NM_001206934): 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: hg19 chr6_apd_hap1:3,463,486-3,466,840 Size: 3,355 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr6_apd_hap1:3,464,071-3,466,740 Size: 2,670 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6_apd_hap1:3,463,486-3,466,840)mRNA (may differ from genome)Protein (363 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): 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

-  MalaCards Disease Associations
  MalaCards Gene Search: AGER
Diseases sorted by gene-association score: diabetic angiopathy (21), thymic hyperplasia (10), diabetic polyneuropathy (8), alzheimer disease-2 (6), duodenal disease (6), microvascular complications of diabetes 5 (5), microvascular complications of diabetes 3 (5), atherosclerosis (5), kidney disease (5), mitral valve disease (5), alzheimer disease (4), vascular disease (3), myocardial infarction (2), diabetes mellitus, noninsulin-dependent (1), diabetes mellitus, insulin-dependent (1)

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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.20100-0.352 Picture PostScript Text
3' UTR -92.80301-0.308 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
  Pfam Domains:
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF08205 - CD80-like C2-set immunoglobulin domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q15109-4
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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    
 RGD    
 Protein Sequence    
 Alignment    

-  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.
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.
JD503621 - Sequence 484645 from Patent EP1572962.
JD259307 - Sequence 240331 from Patent EP1572962.
HQ148134 - Homo sapiens RAGE isoform sRAGE-delta (AGER) mRNA, complete cds, alternatively spliced.
JD290958 - Sequence 271982 from Patent EP1572962.
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.
KC692917 - Homo sapiens receptor for advanced glycation end-products variant 20 (AGER) mRNA, complete cds, alternatively spliced.
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.
KJ890643 - Synthetic construct Homo sapiens clone ccsbBroadEn_00037 AGER gene, encodes complete protein.
KR711244 - Synthetic construct Homo sapiens clone CCSBHm_00021371 AGER (AGER) mRNA, encodes complete protein.
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.
JD323111 - Sequence 304135 from Patent EP1572962.
JD307214 - Sequence 288238 from Patent EP1572962.
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.
JD400372 - Sequence 381396 from Patent EP1572962.
JD055793 - Sequence 36817 from Patent EP1572962.
JD455219 - Sequence 436243 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15109 (Reactome details) participates in the following event(s):

R-HSA-879411 Advanced glycosylation end product-specific receptor (AGER/RAGE) is a multiligand receptor
R-HSA-879362 AGER binds ERK1/2
R-NUL-997411 AGER binds rat ERK1/2
R-HSA-879415 Advanced glycosylation endproduct receptor signaling
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001206934, NP_001193863, Q15109-4, RAGE
UCSC ID: uc011eqh.2
RefSeq Accession: NM_001206934
Protein: Q15109-4, splice isoform of Q15109

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001206934.1
exon count: 10CDS single in 3' UTR: no RNA size: 1511
ORF size: 1092CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2564.00frame shift in genome: no % Coverage: 98.81
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.