Gene Gene information from NCBI Gene database.
Entrez ID 177
Gene name Advanced glycosylation end-product specific receptor
Gene symbol AGER
Synonyms (NCBI Gene)
RAGESCARJ1sRAGE
Chromosome 6
Chromosome location 6p21.32
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, de
SNPs SNP information provided by dbSNP.
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.
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 Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NFKB1 Activation 18622638;19616578
PPARG Repression 18855759
RELA Activation 18622638;19616578
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600214 320 ENSG00000204305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
69
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 12651613
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30485425
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 19451748, 28755135
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11793367, 15539404, 16033829
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17549666
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 11700025, 31266264
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17549666, 28056871, 29693146, 29849788, 30320403, 30556321
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15789216
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15789216
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11567048
★☆☆☆☆
Found in Text Mining only