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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
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: 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 ]
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 ]
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 ]
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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)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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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.
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
Other Names for This Gene
Alternate Gene Symbols: NM_001206934, NP_001193863, Q15109-4, RAGEUCSC ID: uc011eqh.2RefSeq 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:
10 CDS single in 3' UTR:
no
RNA size:
1511
ORF size:
1092 CDS single in intron:
no
Alignment % ID:
99.93
txCdsPredict score:
2564.00 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.