AGER (advanced glycosylation end-product specific receptor)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Gene SNPs Transcription factors Other IDs 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.
3
Gene SNPs Transcription factors Other IDs 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 Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs Transcription factors Other IDs 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
130
Gene SNPs Transcription factors Other IDs 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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
600214 320 ENSG00000204305
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Uncertain significance rs2070600 RCV005931153
Chronic lymphocytic leukemia/small lymphocytic lymphoma Uncertain significance rs2070600 RCV005931155
Clear cell carcinoma of kidney Uncertain significance rs2070600 RCV005931149
Colon adenocarcinoma Uncertain significance rs2070600 RCV005931146
Show/Hide Text Mining Associations (261)
Associations from Text MiningDisease 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