• Gene id: 177

Gene Summary

• Gene Symbol: AGER   Gene   UCSC   Ensembl
• Aliases: RAGE, SCARJ1
• Gene name: advanced glycosylation end-product specific receptor
• Alternate names: advanced glycosylation end product-specific receptor, RAGE isoform NtRAGE-delta, RAGE isoform sRAGE-delta, receptor for advanced glycation end-products variant 20,
• Gene location: 6p21.32 (31615211: 31617014)     Exons: 5     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 0

SNPs

rs36065902

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41841870A>T
NW_003571052.1   g.128512A>T
NG_051246.1   g.11186A>T
NM_152467.5   c.242A>T
NM_152467.4   c.242A>T
NM_152467.3   c.242A>T
NM_001329596.2   c.-23A>T
NM_001329596.1   c.-23A>T
NM_001329595.1   c.242A>T
NC_000017.10   g.39998122A>T
NP_689680.2  

rs61752339

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41845328T>C
NW_003571052.1   g.131970T>C
NG_051246.1   g.14644T>C
NM_152467.5   c.887T>C
NM_152467.4   c.887T>C
NM_152467.3   c.887T>C
NM_001329596.2   c.623T>C
NM_001329596.1   c.623T>C
NM_001329595.1   c.887T>C
NC_000017.10   g.40001580T>C
NP_689680.2  

Protein Summary

• Protein general information: Q15109  
  • Name: Advanced glycosylation end product specific receptor (Receptor for advanced glycosylation end products)
  • Length: 404  
  • Mass: 42803
  • Tissue specificity: Endothelial cells.
• Sequence:

  MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSV
  ARVLPNGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSY
  PAGTLSWHLDGKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPI
  QPRVWEPVPLEEVQLVVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYS
  CVATHSSHGPQESRAVSISIIEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGVILWQRRQRRGEERKA
  PENQEEEEERAELNQSEEPEAGESSTGGP

• Structural information:
  • Protein Domains: (23..11-)
    (/note="Ig-like-V-type)
    (124..22-)
    1 (/note="Ig-like-C2-type)
    (227..31-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR003006   IPR003599  IPR003598  IPR013151  
  • Prosite: PS50835 PS00290
  • PDB: 1PWI 2BJP 2E5E 2ENS 2L7U 2LE9 2LMB 2M1K 2MJW 2MOV 3CJJ 3O3U 4LP4 4LP5 4OF5 4OFV 4OI7 4OI8 4P2Y 4XYN 4YBH 5D7F
  • PDBsum: 1PWI 2BJP 2E5E 2ENS 2L7U 2LE9 2LMB 2M1K 2MJW 2MOV 3CJJ 3O3U 4LP4 4LP5 4OF5 4OFV 4OI7 4OI8 4P2Y 4XYN 4YBH 5D7F
  • DIP: 40658
  • STRING: ENSP00000364210
• Other Databases: GeneCards:  AGER  Malacards:  AGER

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0150104	transport across blood-brain barrier	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0001540	amyloid-beta binding	NAS	molecular function
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0050785	advanced glycation end-product receptor activity	NAS	molecular function
GO:0038023	signaling receptor activity	IMP	molecular function
GO:0005044	scavenger receptor activity	TAS	molecular function
GO:1904472	positive regulation of endothelin production	ISS	biological process
GO:2000439	positive regulation of monocyte extravasation	IMP	biological process
GO:0007611	learning or memory	IGI	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:1903523	negative regulation of blood circulation	ISS	biological process
GO:0150003	regulation of spontaneous synaptic transmission	IGI	biological process
GO:1900745	positive regulation of p38MAPK cascade	IGI	biological process
GO:1904645	response to amyloid-beta	TAS	biological process
GO:1904645	response to amyloid-beta	ISS	biological process
GO:1904645	response to amyloid-beta	TAS	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IGI	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IGI	biological process
GO:1901222	regulation of NIK/NF-kappaB signaling	NAS	biological process
GO:1904646	cellular response to amyloid-beta	ISS	biological process
GO:1900271	regulation of long-term synaptic potentiation	ISS	biological process
GO:0045080	positive regulation of chemokine biosynthetic process	ISS	biological process
GO:1902961	positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IGI	biological process
GO:0045056	transcytosis	ISS	biological process
GO:0045056	transcytosis	ISS	biological process
GO:1900744	regulation of p38MAPK cascade	ISS	biological process
GO:0098794	postsynapse	TAS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IGI	biological process
GO:1900272	negative regulation of long-term synaptic potentiation	IGI	biological process
GO:1900272	negative regulation of long-term synaptic potentiation	ISS	biological process
GO:0045410	positive regulation of interleukin-6 biosynthetic process	ISS	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0048167	regulation of synaptic plasticity	TAS	biological process
GO:0048167	regulation of synaptic plasticity	TAS	biological process
GO:0048167	regulation of synaptic plasticity	TAS	biological process
GO:0009986	cell surface	NAS	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IGI	biological process
GO:1900453	negative regulation of long-term synaptic depression	IGI	biological process
GO:0001934	positive regulation of protein phosphorylation	IGI	biological process
GO:0001934	positive regulation of protein phosphorylation	IGI	biological process
GO:0001934	positive regulation of protein phosphorylation	IGI	biological process
GO:0046330	positive regulation of JNK cascade	IGI	biological process
GO:0001774	microglial cell activation	IGI	biological process
GO:0048143	astrocyte activation	IGI	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	ISS	biological process
GO:0001774	microglial cell activation	ISS	biological process
GO:0090647	modulation of age-related behavioral decline	IGI	biological process
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IGI	biological process
GO:0032693	negative regulation of interleukin-10 production	IDA	biological process
GO:0001914	regulation of T cell mediated cytotoxicity	IDA	biological process
GO:2000514	regulation of CD4-positive, alpha-beta T cell activation	IDA	biological process
GO:2001200	positive regulation of dendritic cell differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042104	positive regulation of activated T cell proliferation	IMP	biological process
GO:0032735	positive regulation of interleukin-12 production	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005886	plasma membrane	NAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006954	inflammatory response	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0009611	response to wounding	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0014002	astrocyte development	IEA	biological process
GO:0045056	transcytosis	IEA	biological process
GO:0045080	positive regulation of chemokine biosynthetic process	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0051101	regulation of DNA binding	IEA	biological process
GO:1900271	regulation of long-term synaptic potentiation	IEA	biological process
GO:1903523	negative regulation of blood circulation	IEA	biological process
GO:1904472	positive regulation of endothelin production	IEA	biological process
GO:1904645	response to amyloid-beta	IEA	biological process
GO:1904646	cellular response to amyloid-beta	IEA	biological process
GO:0001774	microglial cell activation	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0043507	positive regulation of JUN kinase activity	IEA	biological process
GO:0044548	S100 protein binding	IEA	molecular function
GO:0045410	positive regulation of interleukin-6 biosynthetic process	IEA	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	IEA	biological process
GO:0050930	induction of positive chemotaxis	IEA	biological process
GO:0071639	positive regulation of monocyte chemotactic protein-1 production	IEA	biological process
GO:0072657	protein localization to membrane	IEA	biological process
GO:1900272	negative regulation of long-term synaptic potentiation	IEA	biological process
GO:1900744	regulation of p38MAPK cascade	IEA	biological process
GO:1904597	negative regulation of connective tissue replacement involved in inflammatory response wound healing	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0010255	glucose mediated signaling pathway	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0044548	S100 protein binding	IPI	molecular function
GO:0044548	S100 protein binding	IPI	molecular function
GO:0031175	neuron projection development	IGI	biological process
GO:0044548	S100 protein binding	IPI	molecular function
GO:0044548	S100 protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04933	AGE-RAGE signaling pathway in diabetic complications

Diseases

Associated diseases	References
Inflammatory bowel disease	PMID:21939913
Renal fibrosis	PMID:22669512
Atrial fibrillation	PMID:21652096
Lupus nephritis	PMID:22513366
Prostate cancer	PMID:15666359
Schizotypal personality disorder	PMID:22146151
Alzheimer's disease	PMID:8751438
morbid obesity	PMID:22828946
cardiovascular system disease	PMID:20040351
cardiovascular system disease	PMID:12606536
Diabetic retinopathy	PMID:16364297
Kawasaki disease	PMID:22337222
Cystic fibrosis	PMID:24127697
Cystic fibrosis	PMID:21993476
pancreatic cancer	PMID:20398646
Optic nerve disease	PMID:19277685
Melanoma	PMID:15009731
Atherosclerosis	PMID:21906738
Multiple sclerosis	PMID:21511691
Takayasu's arteritis	PMID:20579752
Asthma	PMID:21920897
invasive ductal carcinoma	PMID:22366088
Chronic obstructive pulmonary disease	PMID:20133931
Coronary artery disease	PMID:22337222
Coronary artery disease	PMID:20668462
Carotid artery disease	PMID:21906738
Cerebral infarction	PMID:23288172
Pulmonary fibrosis	PMID:22669512
lung non-small cell carcinoma	PMID:15539404
systemic scleroderma	PMID:18825489
clear cell renal cell carcinoma	PMID:21947243
Schizophrenia	PMID:22146151
Proteinuria	PMID:12606536
Myocardial infarction	PMID:16728681
congestive heart failure	PMID:20685687
Pulmonary hypertension	PMID:21041689
Rheumatoid arthritis	PMID:20541603
Chronic kidney disease	PMID:21822023
Chronic kidney disease	PMID:21432860
Cor pulmonale	PMID:21450080
Psoriasis	PMID:12029499
Diabetic retinopathy	PMID:23091285
Diabetic retinopathy	PMID:16969646
Systemic lupus erythematosus	PMID:22513366
diabetes mellitus	PMID:23396398
type 2 diabetes mellitus	PMID:11884895
type 2 diabetes mellitus	PMID:21067572
vascular skin disease	PMID:11457670
Neovascular inflammatory vitreoretinopathy	PMID:16364297
type 1 diabetes mellitus	PMID:21870072
type 1 diabetes mellitus	PMID:16969646
type 1 diabetes mellitus	PMID:10553500
obesity	PMID:22761461
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R