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Aliases for EGFR Gene

Aliases for EGFR Gene

  • Epidermal Growth Factor Receptor 2 3 3 5
  • Receptor Tyrosine-Protein Kinase ErbB-1 3 4
  • Erb-B2 Receptor Tyrosine Kinase 1 2 3
  • Proto-Oncogene C-ErbB-1 3 4
  • ERBB1 3 4
  • ERBB 3 4
  • HER1 3 4
  • Epidermal Growth Factor Receptor (Avian Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog) 2
  • Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog (Avian) 2
  • Avian Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog 3
  • Epidermal Growth Factor Receptor Tyrosine Kinase Domain 3
  • Cell Proliferation-Inducing Protein 61 3
  • Cell Growth Inhibiting Protein 40 3
  • EC 2.7.10.1 4
  • NISBD2 3
  • PIG61 3
  • MENA 3

External Ids for EGFR Gene

Previous HGNC Symbols for EGFR Gene

  • ERBB

Previous GeneCards Identifiers for EGFR Gene

  • GC07P054550
  • GC07P054794
  • GC07P054828
  • GC07P054860
  • GC07P055054

Summaries for EGFR Gene

Entrez Gene Summary for EGFR Gene

  • 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. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]

CIViC summary for EGFR Gene

  • EGFR is widely recognized for its importance in cancer. Amplification and mutations have been shown to be driving events in many cancer types. Its role in non-small cell lung cancer, glioblastoma and basal-like breast cancers has spurred many research and drug development efforts. Tyrosine kinase inhibitors have shown efficacy in EGFR amplfied tumors, most notably gefitinib and erlotinib. Mutations in EGFR have been shown to confer resistance to these drugs, particularly the variant T790M, which has been functionally characterized as a resistance marker for both of these drugs. The later generation TKI's have seen some success in treating these resistant cases, and targeted sequencing of the EGFR locus has become a common practice in treatment of non-small cell lung cancer. Overproduction of ligands is another possible mechanism of activation of EGFR. ERBB ligands include EGF, TGF-a, AREG, EPG, BTC, HB-EGF, EPR and NRG1-4 (for detailed information please refer to the respective ligand section). In ligand-activated cancers, Cetuximab appears to be more effective than tyrosine-kinase inhibitors (Arteaga et. al.).

GeneCards Summary for EGFR Gene

EGFR (Epidermal Growth Factor Receptor) is a Protein Coding gene. Diseases associated with EGFR include Inflammatory Skin And Bowel Disease, Neonatal, 2 and Lung Cancer. Among its related pathways are ERK Signaling and Gene Expression. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is ERBB4.

UniProtKB/Swiss-Prot for EGFR Gene

  • Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Plays a role in enhancing learning and memory performance (By similarity).

  • Isoform 2 may act as an antagonist of EGF action.

  • (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.

Tocris Summary for EGFR Gene

  • The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase of the ErbB family. Four members of the ErbB family have been identified; EGFR (ErbB1, HER1), ErbB2 (HER2), ErbB3 (HER3) and ErbB4 (HER4). EGFR signaling drives many cellular responses.

Gene Wiki entry for EGFR Gene

PharmGKB "VIP" Summary for EGFR Gene

Additional gene information for EGFR Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for EGFR Gene

Genomics for EGFR Gene

GeneHancer (GH) Regulatory Elements for EGFR Gene

Promoters and enhancers for EGFR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J055017 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +3.7 3748 10.2 ATF1 FOXA2 ZSCAN4 SIN3A RAD21 YY1 ZNF335 GLIS2 EGR1 SCRT2 EGFR GC07P055075
GH07J055060 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.9 +51.2 51235 19.4 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 EGFR EGFR-AS1 SEC61G GC07P055075
GH07J055124 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +111.1 111120 11.3 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ETS1 ZNF213 EGFR EGFR-AS1 SEC61G GC07P055075
GH07J055080 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +65.8 65847 8 ELF3 FOXA2 SMAD1 RB1 MLX STAT5A BMI1 YBX1 BATF RARA EGFR EGFR-AS1 GC07P055075
GH07J054994 Enhancer 1.3 FANTOM5 Ensembl ENCODE 15.8 -23.1 -23140 1.9 PKNOX1 FOXA2 SIN3A BRCA1 TCF12 FOS ATF7 RUNX3 SMARCA4 ETV4 LOC105375284 EGFR EGFR-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EGFR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EGFR gene promoter:
  • STAT3
  • p53
  • Max1
  • c-Myc

Genomic Locations for EGFR Gene

Genomic Locations for EGFR Gene
chr7:55,019,021-55,211,628
(GRCh38/hg38)
Size:
192,608 bases
Orientation:
Plus strand
chr7:55,086,714-55,324,313
(GRCh37/hg19)
Size:
237,600 bases
Orientation:
Plus strand

Genomic View for EGFR Gene

Genes around EGFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGFR Gene

Proteins for EGFR Gene

  • Protein details for EGFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00533-EGFR_HUMAN
    Recommended name:
    Epidermal growth factor receptor
    Protein Accession:
    P00533
    Secondary Accessions:
    • O00688
    • O00732
    • P06268
    • Q14225
    • Q68GS5
    • Q92795
    • Q9BZS2
    • Q9GZX1
    • Q9H2C9
    • Q9H3C9
    • Q9UMD7
    • Q9UMD8
    • Q9UMG5

    Protein attributes for EGFR Gene

    Size:
    1210 amino acids
    Molecular mass:
    134277 Da
    Quaternary structure:
    • Binding of the ligand triggers homo- and/or heterodimerization of the receptor triggering its autophosphorylation. Heterodimer with ERBB2 (PubMed:10805725). Interacts with ERRFI1; inhibits dimerization of the kinase domain and autophosphorylation (PubMed:18046415). Part of a complex with ERBB2 and either PIK3C2A or PIK3C2B (PubMed:10805725). Interacts with GRB2; an adapter protein coupling the receptor to downstream signaling pathways. Interacts with GAB2; involved in signaling downstream of EGFR. Interacts with STAT3; mediates EGFR downstream signaling in cell proliferation. Interacts with RIPK1; involved in NF-kappa-B activation. Interacts (autophosphorylated) with CBL, CBLB and CBLC; involved in EGFR ubiquitination and regulation. Interacts with SOCS5; regulates EGFR degradation through ELOC- and ELOB-mediated ubiquitination and proteasomal degradation. Interacts with PRMT5; methylates EGFR and enhances interaction with PTPN6. Interacts (phosphorylated) with PTPN6; inhibits EGFR-dependent activation of MAPK/ERK. Interacts with COPG1; essential for regulation of EGF-dependent nuclear transport of EGFR by retrograde trafficking from the Golgi to the ER. Interacts with TNK2; this interaction is dependent on EGF stimulation and kinase activity of EGFR. Interacts with PCNA; positively regulates PCNA (PubMed:17115032). Interacts with PELP1. Interacts with MUC1. Interacts with AP2M1. Interacts with FER. May interact with EPS8; mediates EPS8 phosphorylation. Interacts (via SH2 domains) with GRB2, NCK1 and NCK2 (PubMed:10026169). Interacts with ATX2. Interacts with GAREM1. Interacts (ubiquitinated) with ANKRD13A/B/D; the interaction is direct and may regulate EGFR internalization after EGF stimulation. Interacts with GPER1; the interaction occurs in an estrogen-dependent manner. Interacts (via C-terminal cytoplasmic kinase domain) with ZPR1 (via zinc fingers). Interacts with RNF115 and RNF126 (PubMed:23418353). Interacts with GPRC5A (via its transmembrane domain) (PubMed:25311788). Interacts with FAM83B; positively regulates EGFR inducing its autophosphorylation in absence of stimulation by EGF (PubMed:23912460). Interacts with LAPTM4B; positively correlates with EGFR activation (PubMed:28479384). Interacts with STX19 (PubMed:16420529).

    Three dimensional structures from OCA and Proteopedia for EGFR Gene

    Alternative splice isoforms for EGFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGFR Gene

Post-translational modifications for EGFR Gene

  • Phosphorylated on Tyr residues in response to EGF (PubMed:27153536). Phosphorylation at Ser-695 is partial and occurs only if Thr-693 is phosphorylated. Phosphorylation at Thr-678 and Thr-693 by PRKD1 inhibits EGF-induced MAPK8/JNK1 activation. Dephosphorylation by PTPRJ prevents endocytosis and stabilizes the receptor at the plasma membrane. Autophosphorylation at Tyr-1197 is stimulated by methylation at Arg-1199 and enhances interaction with PTPN6. Autophosphorylation at Tyr-1092 and/or Tyr-1110 recruits STAT3. Dephosphorylated by PTPN1 and PTPN2.
  • Monoubiquitinated and polyubiquitinated upon EGF stimulation; which does not affect tyrosine kinase activity or signaling capacity but may play a role in lysosomal targeting (PubMed:27153536). Polyubiquitin linkage is mainly through Lys-63, but linkage through Lys-48, Lys-11 and Lys-29 also occurs. Deubiquitination by OTUD7B prevents degradation. Ubiquitinated by RNF115 and RNF126 (By similarity).
  • Palmitoylated on Cys residues by ZDHHC20. Palmitoylation inhibits internalization after ligand binding, and increases the persistence of tyrosine-phosphorylated EGFR at the cell membrane. Palmitoylation increases the amplitude and duration of EGFR signaling.
  • Methylated. Methylation at Arg-1199 by PRMT5 stimulates phosphorylation at Tyr-1197.
  • Glycosylation at isoforms=3, 4623, Asn603, Asn568, isoforms=3, 4528, isoforms=3, 4444, isoforms=3, 4413, Asn361, isoforms=2, 3, 4352, Asn196, Asn175, Asn128, Asn73, and isoforms=2, 3, 456
  • Ubiquitination at isoforms=970, Lys929, isoforms=867, Lys860, Lys754, isoforms=737, and Lys716
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • EGFR_HUMAN (137)

Antibody Products

  • Abcam antibodies for EGFR

No data available for DME Specific Peptides for EGFR Gene

Domains & Families for EGFR Gene

Gene Families for EGFR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P00533

UniProtKB/Swiss-Prot:

EGFR_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
genes like me logo Genes that share domains with EGFR: view

Function for EGFR Gene

Molecular function for EGFR Gene

UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Plays a role in enhancing learning and memory performance (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2 may act as an antagonist of EGF action.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Endocytosis and inhibition of the activated EGFR by phosphatases like PTPRJ and PTPRK constitute immediate regulatory mechanisms. Upon EGF-binding phosphorylates EPS15 that regulates EGFR endocytosis and activity. Moreover, inducible feedback inhibitors including LRIG1, SOCS4, SOCS5 and ERRFI1 constitute alternative regulatory mechanisms for the EGFR signaling.
GENATLAS Biochemistry:
epidermal growth factor receptor,also binding transforming growth factor alpha (TGFA),involved in early craniofacial development and palate closure,phosphorylating GJB1,amplified in prostate carcinoma and in astrocytomas,deleted in glioblastomas and mutated in malignant oral keratinocytes

Enzyme Numbers (IUBMB) for EGFR Gene

Phenotypes From GWAS Catalog for EGFR Gene

Gene Ontology (GO) - Molecular Function for EGFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001618 virus receptor activity IEA --
GO:0003682 chromatin binding IDA 20551055
GO:0003690 double-stranded DNA binding NAS 6325948
GO:0004672 protein kinase activity IEA --
genes like me logo Genes that share ontologies with EGFR: view

Phenotypes for EGFR Gene

MGI mutant phenotypes for EGFR:
inferred from 16 alleles
GenomeRNAi human phenotypes for EGFR:
genes like me logo Genes that share phenotypes with EGFR: view

Human Phenotype Ontology for EGFR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EGFR Gene

MGI Knock Outs for EGFR:
  • Egfr Egfr<tm1Rdk>
  • Egfr Egfr<tm2(EGFR)Wag>
  • Egfr Egfr<tm1Mag>
  • Egfr Egfr<tm1Wag>
  • Egfr Egfr<tm1.1Dwt>
  • Egfr Egfr<tm1Arge>
  • Egfr Egfr<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

  • Addgene plasmids for EGFR

Cell Line Products

No data available for Transcription Factor Targets and HOMER Transcription for EGFR Gene

Localization for EGFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGFR Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Nucleus membrane; Single-pass type I membrane protein. Endosome. Endosome membrane. Nucleus. Note=In response to EGF, translocated from the cell membrane to the nucleus via Golgi and ER (PubMed:20674546). Endocytosed upon activation by ligand (PubMed:2790960, PubMed:17182860, PubMed:27153536). Colocalized with GPER1 in the nucleus of estrogen agonist-induced cancer-associated fibroblasts (CAF) (PubMed:20551055). {ECO:0000269 PubMed:17182860, ECO:0000269 PubMed:20674546, ECO:0000269 PubMed:27153536, ECO:0000269 PubMed:2790960}.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EGFR gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 5
cytosol 4
cytoskeleton 3
lysosome 3
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EGFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space NAS 9103388
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 12828935
genes like me logo Genes that share ontologies with EGFR: view

Pathways & Interactions for EGFR Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GPCR Pathway
4 PI3K/AKT activation
5 Signaling by ERBB2
genes like me logo Genes that share pathways with EGFR: view

Pathways by source for EGFR Gene

Interacting Proteins for EGFR Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000275493%0d%0a9606.ENSP00000269571%0d%0a9606.ENSP00000370719%0d%0a9606.ENSP00000344468%0d%0a9606.ENSP00000349824%0d%0a9606.ENSP00000339328%0d%0a
Selected Interacting proteins: P00533-EGFR_HUMAN ENSP00000275493 for EGFR Gene via UniProtKB MINT STRING IID

Symbol External ID(s) Details
SHC1
CRK
ESR1
GRB2
CBL

Gene Ontology (GO) - Biological Process for EGFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity IEA --
GO:0000902 cell morphogenesis IEA --
GO:0001503 ossification NAS 12925580
GO:0001889 liver development IEA --
genes like me logo Genes that share ontologies with EGFR: view

Drugs & Compounds for EGFR Gene

(335) Drugs for EGFR Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek