EGFR (Epidermal Growth Factor Receptor)
A key oncogene and therapeutic target in multiple cancers
Gene Information Card
| Symbol | EGFR |
|---|---|
| Full Name | Epidermal Growth Factor Receptor |
| Gene Type | Protein-coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 1956 ncbi.nlm.nih.gov/gene/1956 |
| Ensembl ID | ENSG00000146648 |
| UniProt ID | P00533 |
| OMIM ID | 131550 |
| HGNC ID | 3236 |
| Aliases | ERBB1, ERBB, HER1, mENA |
Description
The EGFR gene encodes the epidermal growth factor receptor, a transmembrane tyrosine kinase that regulates cell proliferation, survival, and differentiation. It is frequently altered in various cancers, making it a major target for therapeutic intervention.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | Activating mutations (e.g., exon 19 deletions, L858R) lead to constitutive kinase activity and oncogenic signaling. | COSMIC, ClinVar |
| Colorectal cancer | EGFR overexpression and KRAS/NRAS mutations confer resistance to anti-EGFR therapies. | COSMIC, ClinVar |
| Glioblastoma | EGFR amplification and EGFRvIII variant promote tumor growth and invasion. | COSMIC, ClinVar |
| Head and neck squamous cell carcinoma | EGFR overexpression is common and associated with poor prognosis. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | High | High expression in keratinocytes |
| Liver | Medium | Moderate expression in hepatocytes |
| Lung | Medium | Expressed in bronchial epithelium |
| Kidney | Medium | Expressed in renal tubular cells |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A431 | High | Epidermoid carcinoma cell line with EGFR amplification |
| HCC827 | High | NSCLC cell line with EGFR exon 19 deletion |
| HeLa | Medium | Cervical cancer cell line with moderate EGFR expression |
| MCF7 | Low | Breast cancer cell line with low EGFR expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Exon 19 deletion (delE746-A750) | In-frame deletion | ~45% of EGFR-mutant NSCLC | Constitutive activation, sensitivity to TKIs |
| L858R | Missense | ~40% of EGFR-mutant NSCLC | Constitutive activation, sensitivity to TKIs |
| T790M | Missense | ~50-60% of acquired resistance to first/second-generation TKIs | Resistance to first/second-generation TKIs, sensitive to third-generation TKIs |
| G719X | Missense | ~3% of EGFR-mutant NSCLC | Activating, variable TKI sensitivity |
| Exon 20 insertion | In-frame insertion | ~4-10% of EGFR-mutant NSCLC | Generally resistant to TKIs, emerging targeted therapies |
Mutation functional classification
Loss of Function (LOF)
Rare truncating mutations may impair kinase activity, but are not commonly observed in cancer.
Gain of Function (GOF)
Common activating mutations (exon 19 deletions, L858R) enhance kinase activity and downstream signaling.
Dominant Negative (DN)
EGFRvIII (exon 2-7 deletion) lacks ligand-binding domain but signals constitutively; may act as dominant-negative for wild-type EGFR in some contexts.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein tyrosine kinase activity |
| • receptor signaling protein tyrosine kinase activity | • transmembrane receptor protein tyrosine kinase signaling pathway |
| • cell proliferation | • cell differentiation |
| • apoptotic process | • MAPK cascade |
| • PI3K/AKT signaling |
Pathways
• EGFR tyrosine kinase inhibitor resistance
• ErbB signaling pathway
• Ras signaling pathway
• PI3K-Akt signaling pathway
• MAPK/ERK signaling pathway
• Endocytosis
Protein Summary
The EGFR protein is a 170 kDa transmembrane glycoprotein composed of an extracellular ligand-binding domain, a single transmembrane helix, and an intracellular tyrosine kinase domain. Upon ligand binding (e.g., EGF, TGF-alpha), it undergoes dimerization and autophosphorylation, activating downstream pathways such as RAS/MAPK and PI3K/AKT, which drive cell proliferation and survival. Mutations or overexpression can lead to uncontrolled signaling and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| anti-EGFR-gy-1 Overexpression RAW 264.7 Stable Cell Line | EDJ0068-G29 | Mouse | Details Get a Quote | |
| EGFR Knockout HEK293 Cell Line | EDJ-KQ17816 | Human | 1956 | Details Get a Quote |
| EGFR Knockout A-549 Cell Line | EDJ-KQ18061 | Human | 1956 | Details Get a Quote |
| EGFR Knockout HeLa Cell Line | EDJ-KQ19162 | Human | 1956 | Details Get a Quote |
| EGFR Knockout HCT 116 Cell Line | EDJ-KQ20516 | Human | 1956 | Details Get a Quote |
| EGFR Knockout MC3T3-E1 Cell Line | EDJ-KZ208 | Mouse | 13649 | Details Get a Quote |
| EGFR (p.Q787R) Point Mutation in HCT 116 Cell Line | EDC03211 | Human | 1956 | Details Get a Quote |
| EGFR (p.T790M) Point Mutation in HCT 116 Cell Line | EDC03059 | Human | 1956 | Details Get a Quote |
| EGFR (p.S768I) Point Mutation in HCT 116 Cell Line | EDC03033 | Human | 1956 | Details Get a Quote |
| EGFR (p.H773_V774insH) Point Mutation in HCT 116 Cell Line | EDC03029 | Human | 1956 | Details Get a Quote |
| EGFR (p.C797S,c.2389T>A) Point Mutation in HCT 116 Cell Line | EDC03155 | Human | 1956 | Details Get a Quote |
| EGFR (p.C797S, c.2390G>C) Point Mutation in HCT 116 Cell Line | EDC03162 | Human | 1956 | Details Get a Quote |
| EGFR (p.Q787=) Point Mutation in HAP1 Cell Line | EDC03453 | Human | 1956 | Details Get a Quote |
| EGFR(p.L858R, c.2573T>G)Point Mutation in A-549 Cell Line | EDC90137 | Human | 1956 | Details Get a Quote |
| EGFR（p.C797S, c.2389T>A and p.Q787Q） Point Mutation in HCT 116 Cell Line | EDC03159 | Human | 1956 | Details Get a Quote |
Displaying Records 1 To 15 Of 19 Records
