Human Gene AGER (uc011hcz.2) Description and Page Index
Description: Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 10, non-coding RNA. RefSeq Summary (NM_001206936): 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: chr6_mann_hap4:3,491,569-3,494,923 Size: 3,355 Total Exon Count: 9 Strand: - Coding Region Position: chr6_mann_hap4:3,491,794-3,494,207 Size: 2,414 Coding Exon Count: 8
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Comments and Description Text from UniProtKB
ID:RAGE_HUMAN DESCRIPTION: RecName: Full=Advanced glycosylation end product-specific receptor; AltName: Full=Receptor for advanced glycosylation end products; Flags: Precursor; 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. SUBUNIT: Interacts with S100A1 and APP (By similarity). Interacts with S100B, S100A12 and S100A14. Constitutive homodimer; disulfide-linked. INTERACTION: Self; NbExp=2; IntAct=EBI-1646426, EBI-1646426; P62993:GRB2; NbExp=2; IntAct=EBI-1646426, EBI-401755; P16333:NCK1; NbExp=2; IntAct=EBI-1646426, EBI-389883; P61586:RHOA; NbExp=2; IntAct=EBI-1646426, EBI-446668; P04271:S100B; NbExp=5; IntAct=EBI-1646426, EBI-458391; P25815:S100P; NbExp=2; IntAct=EBI-1646426, EBI-743700; P02766:TTR; NbExp=2; IntAct=EBI-1646426, EBI-711909; SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform 2: Secreted. TISSUE SPECIFICITY: Endothelial cells. SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains. SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AGERID594ch6p21.html";
Genetic Association Studies of Complex Diseases and Disorders
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.
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q15109
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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.