AGER

Gene Information
 
Gene Symbol
AGER
 
Aliases
RAGE
 
Entrez Gene ID
177
 
Gene Name
Advanced glycosylation end product-specific receptor
 
Chromosomal Location
6p21.3
 
HGNC ID
320
 
Summary
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006954 Biological process Inflammatory response TAS 10399917
GO:0007166 Biological process Cell surface receptor linked signaling pathway TAS 10835680
GO:0009611 Biological process Response to wounding TAS 10399917
GO:0031175 Biological process Neuron projection development IGI 10391939
GO:0051092 Biological process Positive regulation of NF-kappaB transcription factor activity IDA 10391939
Protein Information
 
Protein Name
Advanced glycosylation end product-specific receptor
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF07679 I-set Immunoglobulin I-set domain
PF08205 C2-set_2 CD80-like C2-set immunoglobulin domain
 
OMIM
 
Interactions

Associated Diseases

Diseases References
Amyloidosis 12651613, 20376775
Cancer 18331236, 20192808, 19292913, 18331234
Cardiovascular diseases 19646657, 16159602, 16926247, 20515790
Dementia 17939855
Diabetes mellitus 19636529, 18331234, 9044315, 19591173
   
References
 
Primary:

Increased serum advanced glycation end-products is a distinct finding in lean women with polycystic ovary syndrome (PCOS).

Diamanti-Kandarakis Evanthia, Katsikis Ilias, Piperi Christina, Kandaraki Eleni, Piouka Athanasia, Papavassiliou Athanasios G, Panidis Dimitrios
First Department of Medicine, Endocrine Section, Laiko Hospital, Medical School, University of Athens, Athens, Greece. akandara@otenet.gr
Clin Endocrinol (Oxf). 2008 Oct;69(4):634-41. Epub 2008 Mar 19.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
AGEs  
 
 
 
Related 
6 PCOS and 6 controls 
AGE and RAGE was observed in the granulosa cell layer of PCOS ovaries 
AGEs  
 
 
 
Related 
29 PCOS and 22 control 
PCOS women without overt hyperglycaemia have increased AGE levels and elevated RAGE expression when compared with controls 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23823020
Dietary glycotoxins affect scavenger receptor expression and the hormonal profile of female rats. 
Animal study 

 

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