AREG Gene (Amphiregulin)
AREG: A key EGFR ligand in development, inflammation, and cancer
Gene Information Card
| Symbol | AREG |
|---|---|
| Full Name | Amphiregulin |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 374 ncbi.nlm.nih.gov/gene/374 |
| Ensembl ID | ENSG00000109321 |
| UniProt ID | P15514 |
| OMIM ID | 104640 |
| HGNC ID | 651 |
| Aliases | AR, CRDGF, SDGF, AREGB |
Description
AREG (amphiregulin) is a member of the epidermal growth factor (EGF) family. It is synthesized as a transmembrane precursor that is cleaved to release a soluble growth factor. AREG binds to the epidermal growth factor receptor (EGFR/ERBB1) and activates downstream signaling pathways, including MAPK and PI3K/AKT. It plays critical roles in cell proliferation, survival, differentiation, and tissue repair. AREG is also implicated in inflammatory responses, mammary gland development, and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | Overexpression of AREG activates EGFR signaling, promoting tumor cell proliferation and resistance to therapy | ClinVar, COSMIC |
| Colorectal cancer | AREG is frequently overexpressed and contributes to autocrine EGFR activation, driving tumor growth | COSMIC, NCBI Gene |
| Breast cancer | AREG expression is associated with poor prognosis and endocrine therapy resistance via EGFR/ERBB2 crosstalk | OMIM, COSMIC |
| Psoriasis | Increased AREG expression in keratinocytes stimulates hyperproliferation and inflammation through EGFR | NCBI Gene, UniProt |
| Ovarian cancer | AREG is upregulated and correlates with aggressive disease and chemoresistance | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.3 | Medium |
| Placenta | 8.7 | Medium |
| Breast | 6.5 | Low |
| Lung | 5.2 | Low |
| Colon | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| MCF7 (breast adenocarcinoma) | 9.8 | Moderate expression |
| HeLa (cervical carcinoma) | 7.3 | Low expression |
| HCT116 (colorectal carcinoma) | 11.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Rare variant; uncertain significance |
| c.500G>A (p.Arg167Gln) | Missense | <0.01% | Reported in COSMIC; potential gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in AREG.
Gain of Function (GOF)
Missense mutations such as p.Arg167Gln may enhance EGFR binding or signaling, but evidence is limited.
Dominant Negative (DN)
No dominant-negative mutations described for AREG.
View complete mutation data：
Gene Ontology (GO)
Pathways
• EGFR tyrosine kinase inhibitor resistance (KEGG: hsa01521)
• ErbB signaling pathway (KEGG: hsa04012)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
Amphiregulin (AREG) is a 252-amino-acid transmembrane glycoprotein that is proteolytically cleaved to release a soluble 78-84 amino acid mature growth factor. It contains an EGF-like domain that binds to EGFR with high affinity. AREG is involved in normal physiological processes such as mammary gland development, bone formation, and immune regulation. In pathology, its overexpression is linked to multiple cancers, inflammatory diseases, and fibrosis. AREG is a target for therapeutic antibodies and small molecule inhibitors in oncology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AREG Knockout HEK293 Cell Line | EDJ-KQ607 | Human | 374 | Details Get a Quote |
| AREG Knockout HeLa Cell Line | EDJ-KQ18040 | Human | 374 | Details Get a Quote |
| AREG Knockout A-549 Cell Line | EDJ-KQ19061 | Human | 374 | Details Get a Quote |
| AREG Knockout HCT 116 Cell Line | EDJ-KQ19062 | Human | 374 | Details Get a Quote |
