EGFR Gene Summary [Human]
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]
Details
| Type | Protein Coding |
| Official Symbol | EGFR |
| Official Name | epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] |
| Ensembl ID | ENSG00000146648 |
| Bio databases IDs | |
| Aliases | epidermal growth factor receptor, erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian), erb-b2 receptor tyrosine kinase 1 |
| Synonyms | 9030024J15RIK, C-ERBB, EGFR1, EGF receptor, EGFR vIII, EGF/TGF-alpha RTK, EGF/TGF-α RTK, EGF-TK, epidermal growth factor receptor, ERBB, ERBB1, Errb1, ERRP, HER1, HER1 (EGFR), MENA, NISBD2, NNCIS, PIG61, wa-2, Wa5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EGFR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Furin-like cysteine rich region
- protein-tyrosine kinase
- identical protein binding
- Grb2 binding domain
- intracytoplasmic phosphorylation site
- NPXY motif
- FU
- cytoplasmic domain
- Src phosphorylation site
- growth factor binding
- transmembrane receptor
- Ap-2 binding domain
- extracellular domain
- ubiquitin protein ligase binding
- hormone binding
- protein kinase binding
- Growth factor receptor domain IV
- calmodulin binding
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- protein phosphatase binding
- ectodomain
- CR2 domain
- protein binding
- epidermal growth factor receptor
- Src-homology 2 binding domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- stalk region
- integrin binding
- transmembrane domain
- tyrosine kinase domain
- cytosolic tail domain
- substrate binding domain
- tyrosine phosphorylation site
- ATP-binding domain
- TM_EGFR-like
- chromatin binding
- Protein kinase domain
- ATP-binding pocket
- ligand-binding domain
- extracellular ligand binding domain
- basolateral sorting signal
- intracellular domain
- Tyrosine kinase, catalytic domain
- cytoplasmic kinase domain
- Protein kinase (unclassified specificity)
- dimerization domain
- nuclear localization sequence
- enzyme binding
- receptor binding
- autophosphorylation site
- protein tyrosine kinase activator
- phosphorylation site
- actin filament binding
- ATPase binding
- Receptor L domain
- binding protein
- kinase binding
- Protein Kinases, catalytic domain
- transmembrane receptor protein tyrosine kinase
- Furin-like repeats
Pathways
Biological processes and signaling networks where the EGFR gene in human plays a role, providing insight into its function and relevance in health or disease.
- Agrin Interactions at Neuromuscular Junction
- Bladder Cancer Signaling
- Caveolar-mediated Endocytosis Signaling
- Cholecystokinin/Gastrin-mediated Signaling
- EGF Signaling
- Ephrin A Signaling
- ErbB Signaling
- ERK5 Signaling
- Estrogen-Dependent Breast Cancer Signaling
- Glioma Signaling
- Glucocorticoid Receptor Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- HER-2 Signaling in Breast Cancer
- IL-17A Signaling in Gastric Cells
- Iron homeostasis signaling pathway
- Neuregulin Signaling
- NF-κB Signaling
- Non-Small Cell Lung Cancer Signaling
- Pancreatic Adenocarcinoma Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- SPINK1 General Cancer Pathway
- UVA-Induced MAPK Signaling
- UVB-Induced MAPK Signaling
- UVC-Induced MAPK Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung squamous cell carcinoma
- acute coronary syndrome
- non-insulin-dependent diabetes mellitus
- heart failure
- metastasis
- weight loss
- cancer
- obesity
- impaired glucose tolerance
- hepatic steatosis
role in cell
- expression in
- invasion by
- migration
- differentiation
- tyrosine phosphorylation in
- apoptosis
- phosphorylation in
- cell death
- proliferation
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- nuclear fraction
- raft fractions
- membrane fraction
- pH resistant lipid raft fraction
- glutaminergic synapse
- extranuclear space
- cell junction
- endocytic vesicle membrane
- intracellular membrane-bounded organelle
- extracellular vesicles
- Cytoplasm
- invadopodia
- cell-associated matrix
- cilia
- cell surface
- Golgi region
- Extracellular Space
- cell periphery
- intracellular space
- perinuclear region
- microvesicles
- organelle lumens
- membrane surface
- cellular membrane
- filamentous network
- Nucleus
- basal bodies
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- intercellular junctions
- cell-cell contacts
- cytosol
- apical cell surfaces
- basolateral cell surfaces
- endoplasmic reticulum membrane
- membrane ruffles
- caveolar membranes
- apical membrane
- caveolae
- synaptic membrane
- basolateral membrane
- endosomal membrane
- nucleoplasm
- perinuclear space
- nuclear envelope
- early endosomes
- late endosomes
- membrane blebs
- endocytotic vesicle
- multivesicular bodies
- anchoring junction
- membrane rafts
- clathrin-coated pits
- pseudopodia
- axons
- clathrin-coated vesicles
- cell-cell adherens junctions
- plasma
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EGFR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-tyrosine phosphorylation
- midgut development
- epidermal growth factor receptor signaling pathway
- negative regulation of protein catabolic process
- protein autophosphorylation
- neurogenesis
- tongue development
- negative regulation of epidermal growth factor receptor signaling pathway
- ovulation cycle
- cerebral cortex cell migration
- learning or memory
- positive regulation of cell growth
- epithelial cell proliferation
- hair follicle development
- ossification
- positive regulation of transcription, DNA-dependent
- positive regulation of synaptic transmission, glutamatergic
- positive regulation of epithelial cell proliferation
- positive regulation of peptidyl-serine phosphorylation
- protein insertion into membrane
- positive regulation of DNA repair
- positive regulation of cyclin-dependent protein kinase activity
- positive regulation of protein kinase C activity
- positive regulation of canonical Wnt receptor signaling pathway
- negative regulation of mitotic cell cycle
- circadian rhythm
- hydrogen peroxide metabolic process
- translation
- regulation of protein kinase B signaling cascade
- positive regulation of bone resorption
- cellular response to epidermal growth factor stimulus
- cellular response to reactive oxygen species
- positive regulation of protein kinase B signaling cascade
- positive regulation of cell migration
- positive regulation of MAP kinase activity
- viral entry into host cell
- multicellular organismal development
- ERBB2-EGFR signaling pathway
- positive regulation of vasoconstriction
- positive regulation of cell proliferation
- neuron projection morphogenesis
- positive regulation of DNA replication
- vasodilation
- positive regulation of transcription from RNA polymerase II promoter
- embryonic placenta development
- salivary gland morphogenesis
- positive regulation of smooth muscle cell proliferation
- astrocyte activation
- MAPK cascade
- cellular response to amino acid stimulus
- regulation of peptidyl-tyrosine phosphorylation
- response to UV-A
- cellular response to estradiol stimulus
- positive regulation of fibroblast proliferation
- cellular response to cadmium ion
- positive regulation of kinase activity
- lung development
- positive regulation of phosphorylation
- response to cobalamin
- positive regulation of G1/S transition of mitotic cell cycle
- response to hydroxyisoflavone
- signal transduction
- morphogenesis of an epithelial fold
- positive regulation of glial cell proliferation
- peptidyl-tyrosine autophosphorylation
- transmembrane receptor protein tyrosine kinase signaling pathway
- digestive tract morphogenesis
- cell surface receptor signaling pathway
- eyelid development in camera-type eye
- regulation of JNK cascade
- regulation of ERK1 and ERK2 cascade
- cellular response to mechanical stimulus
- response to calcium ion
- negative regulation of apoptotic process
- positive regulation of protein phosphorylation
- positive regulation of ERK1 and ERK2 cascade
- cellular response to xenobiotic stimulus
- positive regulation of mucus secretion
- diterpenoid metabolic process
- cellular response to dexamethasone stimulus
- positive regulation of superoxide anion generation
Cellular Component
Where in the cell the gene product is active
- Golgi membrane
- endoplasmic reticulum membrane
- basal plasma membrane
- endosome
- clathrin-coated endocytic vesicle membrane
- focal adhesion
- ruffle membrane
- receptor complex
- plasma membrane
- cell surface
- early endosome membrane
- nucleus
- nuclear membrane
- extracellular space
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- membrane raft
- cell junction
- Shc-EGFR complex
- endosome membrane
- macromolecular complex
- basolateral plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- double-stranded DNA binding
- integrin binding
- ATP binding
- protein tyrosine kinase activity
- transmembrane receptor protein tyrosine kinase activity
- cadherin binding
- kinase binding
- protein kinase binding
- identical protein binding
- protein phosphatase binding
- chromatin binding
- epidermal growth factor binding
- epidermal growth factor-activated receptor activity
- actin filament binding
- calmodulin binding
- transmembrane signaling receptor activity
- protein binding
- ubiquitin protein ligase binding
- transmembrane receptor protein tyrosine kinase activator activity
- protein tyrosine kinase activator activity
- viral receptor activity
- MAP kinase kinase kinase activity
- ATPase binding
- enzyme binding