AGER (advanced glycosylation end-product specific receptor)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
177
Gene name Gene Name - the full gene name approved by the HGNC.
Advanced glycosylation end-product specific receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGER
Synonyms (NCBI Gene) Gene synonyms aliases
RAGE, SCARJ1, sRAGE
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez 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, de
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs138178120 C>G,T Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs140930365 A>T Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT051103 hsa-miR-16-5p CLASH 23622248
MIRT047532 hsa-miR-10a-5p CLASH 23622248
MIRT044860 hsa-miR-195-5p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
NFKB1 Activation 18622638;19616578
PPARG Repression 18855759
RELA Activation 18622638;19616578
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(130)
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IDA 29518356
GO:0001540 Function Amyloid-beta binding IPI 22406537, 23973487
GO:0001540 Function Amyloid-beta binding NAS 18367618
GO:0001540 Function Amyloid-beta binding TAS 15457210, 26871627
GO:0001650 Component Fibrillar center IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600214 320 ENSG00000204305
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15109
Protein name Advanced glycosylation end product-specific receptor (Receptor for advanced glycosylation end products)
Protein function Cell surface pattern recognition receptor that senses endogenous stress signals with a broad ligand repertoire including advanced glycation end products, S100 proteins, high-mobility group box 1 protein/HMGB1, amyloid beta/APP oligomers, nucleic
PDB 2E5E , 2ENS , 2L7U , 2LE9 , 2LMB , 2M1K , 2MJW , 2MOV , 3CJJ , 3O3U , 4LP4 , 4LP5 , 4OF5 , 4OFV , 4OI7 , 4OI8 , 4P2Y , 4XYN , 4YBH , 5D7F , 6VXG , 6XQ1 , 6XQ3 , 6XQ5 , 6XQ6 , 6XQ7 , 6XQ8 , 6XQ9 , 7LML , 7LMW , 8I9M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 21 → 112 Immunoglobulin domain Domain
PF08205 C2-set_2 124 → 219 CD80-like C2-set immunoglobulin domain Domain
PF13895 Ig_2 237 → 320 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Endothelial cells. Increased expression in pre-term labor and preeclampsia placentas compared to controls (PubMed:33918759). {ECO:0000269|PubMed:33918759}.
Sequence
Sequence length 404
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Efferocytosis
Neutrophil extracellular trap formation
AGE-RAGE signaling pathway in diabetic complications
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Diabetic cardiomyopathy
Lipid and atherosclerosis 		  TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Advanced glycosylation endproduct receptor signaling
TRAF6 mediated NF-kB activation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Takayasu Arteritis Takayasu arteritis N/A N/A GWAS
Show/Hide Text Mining Associations (261)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 25044082
Acute On Chronic Liver Failure Stimulate 26391982
Addison Disease Associate 37807083
Adenocarcinoma Associate 26683690
Adenocarcinoma of Lung Associate 17549666, 26042604, 30556321, 35571564, 36782138
Adenocarcinoma of Lung Inhibit 35358337, 37497166
Agranulocytosis Associate 26876947
Airway Obstruction Associate 34782693
Allergic Fungal Sinusitis Associate 25772690
Alzheimer Disease Associate 15882940, 18431028, 18952609, 20504772, 20567859, 21844192, 25582438, 25689357, 26313784, 26745632, 29702093, 32114455, 33119615, 35154571