Endometriosis Knowledgebase

Search Result

Gene id

177

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (32185246: 32180967) Exons: 11 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, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]

OMIM

600214

Protein Summary

Protein general information

Q15109

Name: Advanced glycosylation end product specific receptor (Receptor for advanced glycosylation end products)

Length: 404 Mass: 42,803

Tissue specificity: Endothelial cells.

Sequence

MAAGTAVGAWVLVLSLWGAVVGAQNITARIGEPLVLKCKGAPKKPPQRLEWKLNTGRTEAWKVLSPQGGGPWDSV
ARVLPNGSLFLPAVGIQDEGIFRCQAMNRNGKETKSNYRVRVYQIPGKPEIVDSASELTAGVPNKVGTCVSEGSY
PAGTLSWHLDGKPLVPNEKGVSVKEQTRRHPETGLFTLQSELMVTPARGGDPRPTFSCSFSPGLPRHRALRTAPI
QPRVWEPVPLEEVQLVVEPEGGAVAPGGTVTLTCEVPAQPSPQIHWMKDGVPLPLPPSPVLILPEIGPQDQGTYS
CVATHSSHGPQESRAVSISIIEPGEEGPTAGSVGGSGLGTLALALGILGGLGTAALLIGVILWQRRQRRGEERKA
PENQEEEEERAELNQSEEPEAGESSTGGP

Structural information

Protein Domains	Ig-like (23-116) Ig-like (124-221) Ig-like (227-317)
Interpro:	IPR013162 IPR007110 IPR013783 IPR003006 IPR003599 IPR003598 IPR013151
Prosite:	PS50835 PS00290
Pfam:	PF08205 PF00047 PF13895
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
MINT:	2635420
STRING:	ENSP00000364217;

Other Databases

GeneCards: AGER; Malacards: AGER

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001914	regulation of T cell medi ated cytotoxicity	IDA	biological_process
GO:0001933	negative regulation of pr otein phosphorylation	IEA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IEA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	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:0005615	extracellular space	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	IEA	biological_process
GO:0007162	negative regulation of ce ll adhesion	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007259	JAK-STAT cascade	IEA	biological_process
GO:0007420	brain development	IEA	biological_process
GO:0009100	glycoprotein metabolic pr ocess	IEA	biological_process
GO:0009611	response to wounding	TAS	biological_process
GO:0009750	response to fructose	IEA	biological_process
GO:0009925	basal plasma membrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0010508	positive regulation of au tophagy	IEA	biological_process
GO:0010596	negative regulation of en dothelial cell migration	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IEA	biological_process
GO:0010763	positive regulation of fi broblast migration	IEA	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0014911	positive regulation of sm ooth muscle cell migratio n	IEA	biological_process
GO:0030324	lung development	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0031175	neuron projection develop ment	IGI	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IDA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IMP	biological_process
GO:0032966	negative regulation of co llagen biosynthetic proce ss	IEA	biological_process
GO:0033189	response to vitamin A	IEA	biological_process
GO:0033595	response to genistein	IEA	biological_process
GO:0033689	negative regulation of os teoblast proliferation	IEA	biological_process
GO:0035690	cellular response to drug	IEA	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IMP	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043525	positive regulation of ne uron apoptotic process	IEA	biological_process
GO:0044548	S100 protein binding	IPI	molecular_function
GO:0045087	innate immune response	TAS	biological_process
GO:0048146	positive regulation of fi broblast proliferation	IEA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0050785	advanced glycation end-pr oduct receptor activity	IEA	molecular_function
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051595	response to methylglyoxal	IEA	biological_process
GO:0055074	calcium ion homeostasis	IEA	biological_process
GO:0055093	response to hyperoxia	IEA	biological_process
GO:0060100	positive regulation of ph agocytosis, engulfment	IEA	biological_process
GO:0060290	transdifferentiation	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070379	high mobility group box 1 binding	IEA	molecular_function
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071398	cellular response to fatt y acid	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IEA	biological_process
GO:0072714	response to selenite ion	IEA	biological_process
GO:1901018	positive regulation of po tassium ion transmembrane transporter activity	IEA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IEA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IEA	biological_process
GO:2000514	regulation of CD4-positiv e, alpha-beta T cell acti vation	IDA	biological_process
GO:2000676	positive regulation of ty pe B pancreatic cell apop totic process	IEA	biological_process
GO:2001200	positive regulation of de ndritic cell differentiat ion	IMP	biological_process
GO:0001914	regulation of T cell medi ated cytotoxicity	IDA	biological_process
GO:0001933	negative regulation of pr otein phosphorylation	IEA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IEA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	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:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	NAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0007162	negative regulation of ce ll adhesion	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007259	JAK-STAT cascade	IEA	biological_process
GO:0007420	brain development	IEA	biological_process
GO:0009100	glycoprotein metabolic pr ocess	IEA	biological_process
GO:0009611	response to wounding	TAS	biological_process
GO:0009750	response to fructose	IEA	biological_process
GO:0009925	basal plasma membrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0010508	positive regulation of au tophagy	IEA	biological_process
GO:0010596	negative regulation of en dothelial cell migration	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IEA	biological_process
GO:0010763	positive regulation of fi broblast migration	IEA	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0014911	positive regulation of sm ooth muscle cell migratio n	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030324	lung development	IEA	biological_process
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0031175	neuron projection develop ment	IEA	biological_process
GO:0031175	neuron projection develop ment	IGI	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IDA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IMP	biological_process
GO:0032966	negative regulation of co llagen biosynthetic proce ss	IEA	biological_process
GO:0033189	response to vitamin A	IEA	biological_process
GO:0033595	response to genistein	IEA	biological_process
GO:0033689	negative regulation of os teoblast proliferation	IEA	biological_process
GO:0035690	cellular response to drug	IEA	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IMP	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043065	positive regulation of ap optotic process	IEA	biological_process
GO:0043525	positive regulation of ne uron apoptotic process	IEA	biological_process
GO:0044548	S100 protein binding	IEA	molecular_function
GO:0044548	S100 protein binding	IPI	molecular_function
GO:0045087	innate immune response	TAS	biological_process
GO:0048146	positive regulation of fi broblast proliferation	IEA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0050785	advanced glycation end-pr oduct receptor activity	IEA	molecular_function
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051595	response to methylglyoxal	IEA	biological_process
GO:0055074	calcium ion homeostasis	IEA	biological_process
GO:0055093	response to hyperoxia	IEA	biological_process
GO:0060100	positive regulation of ph agocytosis, engulfment	IEA	biological_process
GO:0060290	transdifferentiation	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070379	high mobility group box 1 binding	IEA	molecular_function
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071398	cellular response to fatt y acid	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IEA	biological_process
GO:0072714	response to selenite ion	IEA	biological_process
GO:1901018	positive regulation of po tassium ion transmembrane transporter activity	IEA	biological_process
GO:1901216	positive regulation of ne uron death	IEA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IEA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IEA	biological_process
GO:2000514	regulation of CD4-positiv e, alpha-beta T cell acti vation	IDA	biological_process
GO:2000676	positive regulation of ty pe B pancreatic cell apop totic process	IEA	biological_process
GO:2001200	positive regulation of de ndritic cell differentiat ion	IMP	biological_process
GO:0001914	regulation of T cell medi ated cytotoxicity	IDA	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	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:0005886	plasma membrane	NAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0009611	response to wounding	TAS	biological_process
GO:0031175	neuron projection develop ment	IGI	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IDA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IMP	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IMP	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0044548	S100 protein binding	IPI	molecular_function
GO:0045087	innate immune response	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:2000514	regulation of CD4-positiv e, alpha-beta T cell acti vation	IDA	biological_process
GO:2001200	positive regulation of de ndritic cell differentiat ion	IMP	biological_process

KEGG pathways

hsa04933 AGE-RAGE signaling pathway in diabetic complications

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19204726
Cancer	PMID: 11282423
Cardiovascular disease	PMID: 12606536
Coronary heart disease	PMID: 12606536
Diabetes	PMID: 14704946
Diabetic nephropathy	PMID: 18615900
Endometriosis	PMID: 20537326
Female infertility	PMID: 24276462
Hyperandrogenism	PMID: 28125989
Ischemic heart disease	PMID: 12606536
Kidney disease	PMID: 19578796
Lung disease	PMID: 20010835
Endometriosis	INFBASE20537326
Polycystic ovary syndrome (PCOS)	PMID: 17205306
Proteinuria	PMID: 12606536
Retinopathy	PMID: 11375354
Systemic lupus erythematosus	PMID: 19851445
Ulcerative colitis	PMID: 19659809

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
20537326	Endometrio sis			48 (28 study pa tients, 20 cont rols)		RAGE EN-RAGE COX-2	Show abstract