AGER (Advanced Glycosylation End-Product Specific Receptor)
Key mediator of inflammatory signaling and diabetic complications
Gene Information Card
| Symbol | AGER |
|---|---|
| Full Name | Advanced Glycosylation End-Product Specific Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 177 ncbi.nlm.nih.gov/gene/177 |
| Ensembl ID | ENSG00000204305 |
| UniProt ID | Q15109 |
| OMIM ID | 600214 |
| HGNC ID | 320 |
| Aliases | RAGE, SCARJ1, MGC2235 |
Description
The AGER gene encodes the receptor for advanced glycation end-products (RAGE), a multiligand member of the immunoglobulin superfamily. RAGE binds AGEs, HMGB1, S100 proteins, and amyloid-beta, activating NF-κB and MAPK signaling pathways. It plays a central role in chronic inflammation, diabetic vascular complications, neurodegeneration, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic nephropathy | AGE-RAGE signaling induces oxidative stress and pro-inflammatory cytokines in renal cells | ClinVar, OMIM |
| Alzheimer's disease | RAGE mediates amyloid-beta transport across the blood-brain barrier and neuroinflammation | NCBI, OMIM |
| Rheumatoid arthritis | S100/calgranulin binding to RAGE promotes synovial inflammation | UniProt, OMIM |
| Atherosclerosis | RAGE activation in endothelial cells enhances adhesion molecule expression and plaque formation | NCBI, OMIM |
| Lung cancer | RAGE overexpression in tumor cells promotes proliferation and metastasis via NF-κB | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 48.2 | High |
| Heart | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 6.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 62.4 | High expression |
| HEK293 (embryonic kidney) | 18.9 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.2 | Low expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2070600 (Gly82Ser) | missense | ~5% (global) | Increased ligand binding and NF-κB activation; associated with diabetic complications |
| rs1800625 (T-429C) | promoter | ~10% (global) | Alters transcription factor binding; linked to inflammatory diseases |
| rs184003 (G1704T) | intronic | ~8% (global) | Associated with rheumatoid arthritis susceptibility |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in germline; knockout mice show reduced inflammation.
Gain of Function (GOF)
Gly82Ser variant enhances RAGE signaling and pro-inflammatory cytokine production.
Dominant Negative (DN)
Soluble RAGE (sRAGE) isoforms act as decoy receptors, but no dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004888 – transmembrane signaling receptor activity | • GO:0005515 – protein binding |
| • GO:0006954 – inflammatory response | • GO:0007165 – signal transduction |
| • GO:0019899 – enzyme binding |
Pathways
• AGE-RAGE signaling pathway in diabetic complications (KEGG hsa04933)
• NF-kappa B signaling pathway (KEGG hsa04064)
• MAPK signaling pathway (KEGG hsa04010)
Protein Summary
RAGE is a 404-amino-acid type I transmembrane protein with an extracellular V-C1-C2 Ig-like domain, a single transmembrane helix, and a short cytoplasmic tail essential for signaling. It binds diverse ligands including AGEs, HMGB1, S100 proteins, and amyloid-beta. The cytoplasmic domain interacts with Diaphanous-1 and TIRAP to activate NF-κB and MAPK cascades. Alternative splicing generates soluble RAGE (sRAGE) that acts as a decoy receptor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGER Knockout HEK293 Cell Line | EDJ-KQ1094 | Human | 177 | Details Get a Quote |
| AGER Knockout A-549 Cell Line | EDJ-KQ18916 | Human | 177 | Details Get a Quote |
| AGER Knockout HCT 116 Cell Line | EDJ-KQ20260 | Human | 177 | Details Get a Quote |
| AGER Knockout HeLa Cell Line | EDJ-KQ20261 | Human | 177 | Details Get a Quote |
| AGER Knockout BEAS-2B Cell Line | EDC08146 | Human | 177 | Details Get a Quote |
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