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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 Diabetic Polyneuropathy. Among its related pathways are Activated TLR4 signalling and Advanced glycosylation endproduct receptor signaling. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for AGER Gene

Promoters and enhancers for AGER Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J032185 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 650.7 0.0 -40 0.3 PAF1 CEBPB CEBPG ZNF395 ZNF592 MEF2D ATF4 POLR2B POLR2A CEBPA AGER ENSG00000273333 PRRC2A GPANK1 NELFE ABHD16A DXO BRD2
GH06J032182 Enhancer 0.6 dbSUPER 650.7 +2.0 1995 0.2 KLF1 CEBPB REST MEF2D ZNF148 GATA2 POLR2A VEZF1 GATA1 AGER GC06P032185 GC06P032187 GC06P032188 GC06P032189 GC06P032190 GC06P032186 GC06P032184
GH06J032183 Enhancer 0.5 dbSUPER 650.7 +1.8 1783 0.1 POLR2A GATA2 VEZF1 CEBPB REST AGER SKIV2L GC06P032185 GC06P032187 GC06P032188 GC06P032189 GC06P032190 GC06P032186 GC06P032184
GH06J032184 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 20 -7.0 -6956 13.4 CLOCK MLX YBX1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PBX2 NOTCH4 GPSM3 ATF6B BRD2 DDX39B LY6G5B LSM2 RPL3P2 SKIV2L
GH06J032175 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.8 +6.6 6564 5.1 DMAP1 YBX1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC GLIS1 NR2C1 RNF5 AGPAT1 BRD2 DDX39B LY6G5B LSM2 ATF6B CSNK2B GPANK1 MICA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGER on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGER gene promoter:
  • STAT3
  • HEN1
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1

Genomic Locations for AGER Gene

Genomic Locations for AGER Gene
chr6:32,180,968-32,184,324
(GRCh38/hg38)
Size:
3,357 bases
Orientation:
Minus strand
chr6:32,148,745-32,152,101
(GRCh37/hg19)
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=8181 and posLast=2525
  • Modification sites at PhosphoSitePlus

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

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

Phenotypes From GWAS Catalog for AGER Gene

Gene Ontology (GO) - Molecular Function for AGER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 15457210
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:
  • Ager Ager<tm1.1Hyam>
  • Ager Ager<tm1.1Arnd>

Animal Model Products

  • Taconic Biosciences Mouse Models for AGER

CRISPR Products

miRNA for AGER Gene

miRTarBase miRNAs that target AGER

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGER

Clone Products

  • Addgene plasmids for AGER

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 NAS,TAS --
GO:0005887 integral component of plasma membrane NAS 15457210
GO:0009986 cell surface NAS 15457210
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:0001934 positive regulation of protein phosphorylation IGI 15457210
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006954 inflammatory response IEA,TAS --
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGER

Clone Products

  • Addgene plasmids for AGER

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(4.2)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with AGER: view

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 34 33
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGER 34 33
  • 86.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGER 34 33
  • 83.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ager 33
  • 81.18 (n)
mouse
(Mus musculus)
Mammalia Ager 16 34 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AGER: view image

Paralogs for AGER Gene

(2) SIMAP similar genes for AGER Gene using alignment to 25 proteins:

  • RAGE_HUMAN
  • A8MS87_HUMAN
  • B4DNX3_HUMAN
  • C0IP14_HUMAN
  • C0IP16_HUMAN
  • E9LVY5_HUMAN
  • E9LVY6_HUMAN
  • E9LVY7_HUMAN
  • F1ABM9_HUMAN
  • F1ABN0_HUMAN
  • F1ABN1_HUMAN
  • F1ABN2_HUMAN
  • F1ABN3_HUMAN
  • F1ABN4_HUMAN
  • F1ABN5_HUMAN
  • Q101R2_HUMAN
  • Q101R3_HUMAN
  • Q101R5_HUMAN
  • Q3L1R2_HUMAN
  • Q3L1R3_HUMAN
  • Q5SSZ2_HUMAN
  • Q5SSZ3_HUMAN
  • Q71BB6_HUMAN
  • Q71BG7_HUMAN
  • V5R6A3_HUMAN
genes like me logo Genes that share paralogs with AGER: view

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 Variation AA Info Type
rs1000 -- 32,186,118(-) T/C upstream_transcript_variant
rs1000138351 -- 32,183,571(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000286697 -- 32,184,644(-) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000337149 -- 32,184,909(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000832365 -- 32,181,882(-) T/G intron_variant

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

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

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)

Additional Variant Information for AGER Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AGER Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diabetic angiopathy
  • diabetic vascular disorder
diabetic polyneuropathy
  • diabetes mellitus with polyneuropathy
microvascular complications of diabetes 5
  • microvascular complications of diabetes, susceptibility to, 5
kidney disease
  • nephropathy
duodenal disease
  • duodenum disorder
- elite association - COSMIC cancer census association via MalaCards
Search AGER in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AGER

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 58
  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 44 58
  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 58
  5. Alternative splicing of the RAGE cytoplasmic domain regulates cell signaling and function. (PMID: 24260107) Jules J … Hudson BI (PloS one 2013) 3 4 58

Products for AGER Gene

  • Addgene plasmids for AGER

Sources for AGER Gene

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