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Aliases for AGER Gene

Aliases for AGER Gene

  • Advanced Glycosylation End-Product Specific Receptor 2 3 5
  • RAGE 3 4
  • Receptor For Advanced Glycation End-Products Variant 20 3
  • Advanced Glycosylation End Product-Specific Receptor 3
  • Receptor For Advanced Glycosylation End Products 4
  • Receptor For Advanced Glycation End-Products 2
  • RAGE Isoform NtRAGE-Delta 3
  • RAGE Isoform SRAGE-Delta 3
  • SCARJ1 3

External Ids for AGER Gene

Previous GeneCards Identifiers for AGER Gene

  • GC06M032175
  • GC06M031920
  • GC06M032220
  • GC06M032256
  • GC06M031903
  • GC06M032148

Summaries for AGER Gene

Entrez Gene Summary for AGER Gene

  • 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]

GeneCards Summary for AGER Gene

AGER (Advanced Glycosylation End-Product Specific Receptor) is a Protein Coding gene. Diseases associated with AGER include Diabetic Angiopathy and Thymic Hyperplasia. Among its related pathways are AGE/RAGE pathway and Activated TLR4 signalling. GO annotations related to this gene include identical protein binding and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for AGER Gene

  • 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 Wiki entry for AGER Gene

Additional gene information for AGER Gene

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

Genomics for AGER Gene

Regulatory Elements for AGER Gene

Enhancers for AGER Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H032184 1.7 Ensembl ENCODE dbSUPER 20 -7.0 -6956 13 MLX YBX1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 HLA-DRB1 ATF6B AGER RNF5 LSM2 NOTCH4 STK19B DDX39B BRD2 C4A
GH06H032175 1.4 ENCODE dbSUPER 14.8 +6.6 6565 5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B BRD2 LSM2 LY6G5B DDX39B ATF6B GPANK1 VARS TNXB MSH5 BAG6
GH06H032106 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +73.1 73073 9 HDAC1 PKNOX1 RB1 KLF17 BMI1 ZSCAN9 RAD21 GATA2 EGR1 SCRT2 C4A HLA-DRB1 ATF6B SKIV2L STK19 TNXA AGER CYP21A1P STK19B TNXB
GH06H031792 2 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +388.6 388630 6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ATF6B LSM2 BAG6 LY6G5B MSH5 SKIV2L DDX39B VARS CSNK2B C4A
GH06H031567 2 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +605.9 605906 22 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B TNF DDX39B LY6G5B ATF6B LSM2 TCF19 MDC1 DHX16 NFKBIL1 C6orf47
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGER on UCSC Golden Path with GeneCards custom track

Genomic Location for AGER Gene

Chromosome:
6
Start:
32,180,968 bp from pter
End:
32,184,324 bp from pter
Size:
3,357 bases
Orientation:
Minus strand

Genomic View for AGER Gene

Genes around AGER on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGER Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGER Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for AGER Gene

  • Protein details for AGER Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15109-RAGE_HUMAN
    Recommended name:
    Advanced glycosylation end product-specific receptor
    Protein Accession:
    Q15109
    Secondary Accessions:
    • A2BFI7
    • A6NKF0
    • A7Y2U9
    • B0V176
    • Q15279
    • Q3L1R4
    • Q3L1R5
    • Q3L1R6
    • Q3L1R7
    • Q3L1R8
    • Q3L1S0
    • Q86SN1
    • Q9H2X7
    • Q9Y3R3
    • V5R6A3

    Protein attributes for AGER Gene

    Size:
    404 amino acids
    Molecular mass:
    42803 Da
    Quaternary structure:
    • Interacts with S100A1 and APP (By similarity). Interacts with S100B, S100A12 and S100A14. Constitutive homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for AGER Gene

    Alternative splice isoforms for AGER Gene

neXtProt entry for AGER Gene

Post-translational modifications for AGER Gene

  • Glycosylation at posLast=2525 and Asn81
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AGER (RAGE)

Assay Products

  • Cloud-Clone Corp. Assay Kits for AGER

No data available for DME Specific Peptides for AGER Gene

Domains & Families for AGER Gene

Gene Families for AGER Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AGER: view

No data available for UniProtKB/Swiss-Prot for AGER Gene

Function for AGER Gene

Molecular function for AGER Gene

GENATLAS Biochemistry:
receptor of advanced glycosylation end products of proteins,mediating amyloid beta peptide effect on neurons and microglia
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for AGER Gene

Gene Ontology (GO) - Molecular Function for AGER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 8751438
GO:0004888 transmembrane signaling receptor activity TAS 1378843
GO:0005044 scavenger receptor activity TAS 11240025
GO:0005515 protein binding IPI 16061848
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with AGER: view
genes like me logo Genes that share phenotypes with AGER: view

Animal Models for AGER Gene

MGI Knock Outs for AGER:

Animal Model Products

  • Taconic Biosciences Mouse Models for AGER

CRISPR Products

miRNA for AGER Gene

miRTarBase miRNAs that target AGER

Clone Products

  • Addgene plasmids for AGER
  • Applied Biological Materials Clones for AGER
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AGER Gene

Localization for AGER Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGER Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Isoform 10: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGER gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS,NAS --
GO:0005887 integral component of plasma membrane TAS 1378843
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AGER: view

Pathways & Interactions for AGER Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Cytosolic sensors of pathogen-associated DNA
3 Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview
4 Innate Immune System
5 AGE-RAGE signaling pathway in diabetic complications
genes like me logo Genes that share pathways with AGER: view

Gene Ontology (GO) - Biological Process for AGER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001914 regulation of T cell mediated cytotoxicity IDA 22473704
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006954 inflammatory response TAS,IEA --
GO:0007166 cell surface receptor signaling pathway TAS 10835680
genes like me logo Genes that share ontologies with AGER: view

No data available for SIGNOR curated interactions for AGER Gene

Drugs & Compounds for AGER Gene

(17) Drugs for AGER Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(14) Additional Compounds for AGER Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AGER: view

Transcripts for AGER Gene

Unigene Clusters for AGER Gene

Advanced glycosylation end product-specific receptor:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for AGER
  • Applied Biological Materials Clones for AGER
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AGER Gene

No ASD Table

Relevant External Links for AGER Gene

GeneLoc Exon Structure for
AGER
ECgene alternative splicing isoforms for
AGER

Expression for AGER Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGER Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGER Gene

This gene is overexpressed in Lung (x26.6).

Protein differential expression in normal tissues from HIPED for AGER Gene

This gene is overexpressed in Lung (66.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGER Gene



Protein tissue co-expression partners for AGER Gene

NURSA nuclear receptor signaling pathways regulating expression of AGER Gene:

AGER

SOURCE GeneReport for Unigene cluster for AGER Gene:

Hs.534342

mRNA Expression by UniProt/SwissProt for AGER Gene:

Q15109-RAGE_HUMAN
Tissue specificity: Endothelial cells.

Evidence on tissue expression from TISSUES for AGER Gene

  • Lung(4.7)
  • Skin(4.1)
  • Muscle(4)
genes like me logo Genes that share expression patterns with AGER: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AGER Gene

Orthologs for AGER Gene

This gene was present in the common ancestor of mammals.

Orthologs for AGER Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGER 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia AGER 33 34
  • 86.6 (n)
dog
(Canis familiaris)
Mammalia AGER 33 34
  • 83.72 (n)
rat
(Rattus norvegicus)
Mammalia Ager 33
  • 81.18 (n)
mouse
(Mus musculus)
Mammalia Ager 33 16 34
  • 81.09 (n)
oppossum
(Monodelphis domestica)
Mammalia AGER 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGER 34
  • 48 (a)
OneToOne
Species where no ortholog for AGER was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AGER Gene

ENSEMBL:
Gene Tree for AGER (if available)
TreeFam:
Gene Tree for AGER (if available)

Paralogs for AGER Gene

No data available for Paralogs for AGER Gene

Variants for AGER Gene

Sequence variations from dbSNP and Humsavar for AGER Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000 -- 32,186,118(-) AACAT(A/G)CACAT upstream-variant-2KB, utr-variant-3-prime
rs1000138351 -- 32,183,571(+) ACTCG(A/G)TAGTT nc-transcript-variant, reference, synonymous-codon
rs1000286697 -- 32,184,644(+) GGGAA(A/C)AGGAG nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs1000337149 -- 32,184,909(+) TTCCC(C/T)ACTCT nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime, utr-variant-5-prime
rs1000832365 -- 32,181,882(+) GCATG(G/T)GCCAC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv462877 CNV loss 19166990
nsv602104 CNV loss 21841781
nsv602105 CNV loss 21841781
nsv830629 CNV loss 17160897

Variation tolerance for AGER Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGER Gene

Human Gene Mutation Database (HGMD)
AGER
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGER

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

Disorders for AGER Gene

MalaCards: The human disease database

(15) MalaCards diseases for AGER Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetic angiopathy
  • diabetic vascular disorder
thymic hyperplasia
  • hyperplasia of thymus gland
diabetic polyneuropathy
  • diabetes mellitus with polyneuropathy
alzheimer disease-2
  • alzheimer's disease 2
duodenal disease
  • duodenum disorder
- elite association - COSMIC cancer census association via MalaCards
Search AGER in MalaCards View complete list of genes associated with diseases

Relevant External Links for AGER

Genetic Association Database (GAD)
AGER
Human Genome Epidemiology (HuGE) Navigator
AGER
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGER
genes like me logo Genes that share disorders with AGER: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGER Gene

Publications for AGER Gene

  1. Polymorphisms in advanced glycosylation end product-specific receptor (AGER) gene, insulin resistance, and type 2 diabetes mellitus. (PMID: 18796298) Goulart AC … Zee RY (Clinica chimica acta; international journal of clinical chemistry 2008) 3 22 45 60
  2. Novel splice variants of the receptor for advanced glycation end-products expressed in human vascular endothelial cells and pericytes, and their putative roles in diabetes-induced vascular injury. (PMID: 12495433) Yonekura H … Yamamoto H (The Biochemical journal 2003) 3 4 22 60
  3. Effects of novel polymorphisms in the RAGE gene on transcriptional regulation and their association with diabetic retinopathy. (PMID: 11375354) Hudson BI … Grant PJ (Diabetes 2001) 3 4 45 60
  4. Cloning and expression of a cell surface receptor for advanced glycosylation end products of proteins. (PMID: 1378843) Neeper M … Shaw A (The Journal of biological chemistry 1992) 3 4 22 60
  5. Alternative splicing of the RAGE cytoplasmic domain regulates cell signaling and function. (PMID: 24260107) Jules J … Hudson BI (PloS one 2013) 3 4 60

Products for AGER Gene

  • Addgene plasmids for AGER

Sources for AGER Gene

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