AGER (advanced glycosylation end-product specific receptor)

Gene

• Entrez ID: 177
• Gene name: Advanced glycosylation end-product specific receptor
• Gene symbol: AGER
• Synonyms: RAGE, SCARJ1, sRAGE
• 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 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

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 factor	Regulation	Reference
NFKB1	Activation	18622638;19616578
PPARG	Repression	18855759
RELA	Activation	18622638;19616578

Gene ontology (GO)

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
GO:0001666	Process	Response to hypoxia	IEA
GO:0001774	Process	Microglial cell activation	IGI	15457210
GO:0001774	Process	Microglial cell activation	ISS	22406537
GO:0001914	Process	Regulation of T cell mediated cytotoxicity	IDA	22473704
GO:0001934	Process	Positive regulation of protein phosphorylation	IGI	15457210
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	1378843
GO:0005044	Function	Scavenger receptor activity	TAS	11240025
GO:0005515	Function	Protein binding	IPI	16061848, 16716307, 16954185, 17474147, 17660747, 17726019, 18922799, 19386136, 19944695, 21706016, 21829704, 24474694, 25910212, 26758977, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	15457210
GO:0006897	Process	Endocytosis	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	10835680
GO:0007611	Process	Learning or memory	IGI	15457210
GO:0009611	Process	Response to wounding	TAS	10399917
GO:0009986	Component	Cell surface	NAS	15457210
GO:0010255	Process	Glucose mediated signaling pathway	IDA	25689357
GO:0016324	Component	Apical plasma membrane	IDA	26005850
GO:0030054	Component	Cell junction	IDA
GO:0031175	Process	Neuron projection development	IGI	10391939
GO:0032693	Process	Negative regulation of interleukin-10 production	IDA	22473704
GO:0032722	Process	Positive regulation of chemokine production	ISS	22406537
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS	22406537
GO:0032735	Process	Positive regulation of interleukin-12 production	IMP	15944249
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS	22406537
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS	22406537
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IGI	11078691
GO:0038023	Function	Signaling receptor activity	IMP	15457210
GO:0042104	Process	Positive regulation of activated T cell proliferation	IMP	15944249
GO:0042802	Function	Identical protein binding	IPI	24119142
GO:0043507	Process	Positive regulation of JUN kinase activity	IEA
GO:0044548	Function	S100 protein binding	IPI	15033494
GO:0044877	Function	Protein-containing complex binding	IPI	29518356
GO:0045056	Process	Transcytosis	ISS	12808450, 22406537
GO:0045087	Process	Innate immune response	TAS
GO:0046330	Process	Positive regulation of JNK cascade	IGI	20739563
GO:0048143	Process	Astrocyte activation	IGI	15457210
GO:0048167	Process	Regulation of synaptic plasticity	TAS	18367618, 19221410, 20739563
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050785	Function	Advanced glycation end-product receptor activity	NAS	15457210
GO:0050930	Process	Induction of positive chemotaxis	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	10391939
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IGI	15457210
GO:0051101	Process	Regulation of DNA binding	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IGI	15457210
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IEA
GO:0072657	Process	Protein localization to membrane	IEA
GO:0090647	Process	Modulation of age-related behavioral decline	IGI	15457210
GO:0098794	Component	Postsynapse	TAS	26224839
GO:0150003	Process	Regulation of spontaneous synaptic transmission	IGI	15457210
GO:0150104	Process	Transport across blood-brain barrier	IDA	23973487
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1900271	Process	Regulation of long-term synaptic potentiation	ISS
GO:1900272	Process	Negative regulation of long-term synaptic potentiation	IGI	15457210
GO:1900272	Process	Negative regulation of long-term synaptic potentiation	ISS
GO:1900453	Process	Negative regulation of long-term synaptic depression	IGI	20739563
GO:1900744	Process	Regulation of p38MAPK cascade	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IGI	20739563
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	NAS	15457210
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	IGI	15457210
GO:1902961	Process	Positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IGI	22406537
GO:1903523	Process	Negative regulation of blood circulation	ISS	12808450
GO:1904472	Process	Positive regulation of endothelin production	ISS	12808450
GO:1904597	Process	Negative regulation of connective tissue replacement involved in inflammatory response wound healing	IEA
GO:1904645	Process	Response to amyloid-beta	ISS
GO:1904645	Process	Response to amyloid-beta	TAS	18367618, 20739563
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:2000439	Process	Positive regulation of monocyte extravasation	IMP	11078691
GO:2000514	Process	Regulation of CD4-positive, alpha-beta T cell activation	IDA	22473704
GO:2001200	Process	Positive regulation of dendritic cell differentiation	IMP	15944249

Other IDs

• MIM: 600214
• HGNC: 320
• e!Ensembl: ENSG00000204305

Protein

• 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

• Sequence:

  MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEA
  WKVLSPQGGGPWDSVARVLPNGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQI
  PGKPEIVDSASELTAGVPNKVGTCVSEGSYPAGTLSWHLDGKPLVPNEKGVSVKEQTRRH
  PETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPIQPRVWEPVPLEEVQL
  VVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYS
  CVATHSSHGPQESRAVSISIIEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGV
  ILWQRRQRRGEERKAPENQEEEEERAELNQSEEPEAGESSTGGP

• Sequence length: 404