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FLASH GENE
Symbol EGFR contributors: mct/pgu - updated : 12-11-2009
HGNC name epidermal growth factor receptor
HGNC id 3236
Location 7p11.2      Physical location : 55.086.724 - 55.275.030
Synonym name
  • epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)
  • avian erythroblastic leukemia viral (v-erb-b) oncogene homolog
  • cell growth inhibiting protein 40
  • cell proliferation-inducing protein 61
  • receptor tyrosine-protein kinase ErbB-1
    • Synonym symbol(s) ERBB, ERBB1, S6, HER1, PIG61, mENA
    EC.number 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 188.31 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    HTR5A 7q36.1 5-hydroxytryptamine (serotonin) receptor 5A SEC61G 7p11.2 5-hydroxytryptamine (serotonin) receptor 5A LOC222005 7p11.2 similar to ADP,ATP carrier protein T2 - human LOC392847 7 LOC392847 INSIG1 7q36 insulin induced gene 1 MGC33530 7p11.2 hypothetical protein MGC33530 LOC392672 7 hypothetical gene supported by BC050059; NM_001173 LOC392030 7 similar to ribosomal protein L31 EGFR 7p12 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) SEC61G 7p11.2 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) LOC392904 7 similar to calmodulin 1; Calmodulin 1 (phosphorylase kinase, delta) LOC346284 7p11.2 similar to Rho GTPase activating protein 5 LOC392905 7 similar to elongin A binding protein 1 LOC392673 7 similar to LanC lantibiotic synthetase component C-like 2; testis-specific adriamycin sensitivity protein; LanC (bacterial lantibiotic synthetase component C)-like 2; G protein-coupled receptor 69B EGFR 7p12 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) LANCL2 7q31.1-q31.33 LanC lantibiotic synthetase component C-like 2 (bacterial) DKFZP564K0822 7p11.2 hypothetical protein DKFZp564K0822 CALM1P2 7p11.2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 LOC392031 7 similar to elongin A binding protein 1 LANCL2 7q31.1-q31.33 LanC lantibiotic synthetase component C-like 2 (bacterial) LOC392906 7 similar to cell division cycle 42 isoform 2; cell division cycle 42 (GTP-binding protein, 25kD); GTP-binding protein, 25kD; cell division cycle 42 (GTP binding protein, 25kD) LOC392907 7 similar to tubulin, beta 5 LOC392908 7 similar to KIAA0565 protein FKBP9L 7p11.1 FK506 binding protein 9-like DKFZP564K0822 7p11.2 hypothetical protein DKFZp564K0822 LOC392674 7 similar to SMT3 suppressor of mif two 3 homolog 2 LOC392675 7 similar to hypothetical protein LOC349114 LOC392909 7 similar to septin 10 isoform 1 LOC392032 7 similar to cell division cycle 42 isoform 2; cell division cycle 42 (GTP-binding protein, 25kD); GTP-binding protein, 25kD; cell division cycle 42 (GTP binding protein, 25kD) LOC392033 7 similar to tubulin, beta 5 FLJ39963 7p11.2 hypothetical protein FLJ39963 LOC392034 7 similar to KIAA0565 protein FKBP9L 7p11.1 FK506 binding protein 9-like MRPS17 7p11-q11.21 mitochondrial ribosomal protein S17 GBAS 7p12 glioblastoma amplified sequence LOC389491 7 similar to SMT3 suppressor of mif two 3 homolog 2 LOC389492 7 similar to hypothetical protein LOC349114
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 5616 134.3 1210 - 2001 11161793
    20 splicing 2239 69.2 628 - 2001 11161793
    using a different 3' terminal exon compared to variant 1
    10 splicing 1595 44.6 405 . secreted . ovarian cancers 2001 11161793
    using a different 3' terminal exon compared to variant 1
    20 splicing 2865 77.3 705 . ubiquitous . placenta liver, fetal tissues, brain, kidney, lung 2001 11161793
    using a different 3' terminal exon compared to variant 1
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
     mouthtongue  highly
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland highly
    Urinarybladder   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroblast
    Digestivehepatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period neonatal
    Text rostral subependymal zone of postnatal brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extracellular domain
  • four subdomains (two cysteine rich and two involved in ligand binding)
  • a single transmembrane domain with extensive homology to the epidermal growth factor receptor
  • a cytoplasmic catalytic domain
  • specific N-glycan in domain III playing an essential role in regulating receptor dimerization and transforming activity
  • a putative NLS with three clusters of basic amino acids (RRRHIVRKRTLRR (amino acids 645-657)) in the juxtamembrane region
    • conjugated GlycoP
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Egfr
    homolog to drosophila Egfr
    homolog to zebrafish egfr
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • EGF receptor subfamily
    • CATEGORY receptor membrane tyrosine kinase
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • type I membrane protein, a secreted isoform
  • translocates to the nucleus in liver cells
    • basic FUNCTION
  • receptor tyrosine kinase, class I, critical regulator of hepatocyte proliferation in the initial phases of liver regeneration
  • acting as a receptor for EGF, but also for other members of the EGF family, as TGF-alpha, amphiregulin, betacellulin, heparin-binding EGF-like growth factor, GP30 and vaccinia virus growth factor
  • involved in the control of cell growth and differentiation
  • involved in early craniofacial development and palate closure and in keratinocyte differentiation
  • activating phosphatidylinositol and Ras pathways
  • plays a novel role in modulating mitochondrial function via its association with, and modification of COX2
  • mediating the activities of both myelin inhibitors and chondroitin sulfate proteoglycans in inhibiting neurite outgrowth
  • involved in the pathogenesis and progression of different carcinoma types
  • EGFR signaling is negatively regulated by CPEB3 in neurons
    • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS development
    text neurogenic potential
    PATHWAY
    metabolism
    signaling signal transduction
    MAPK signaling pathway; calcium signaling pathway
    a component
  • part of a complex with ERBB2 and either PIK3C2A or PIK3C2B
  • part of EGFR/ERK pathways involved in control of differentiation
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
    • protein
  • phosphorylating GJB1 actin cytoskeleton rearrangement resulting in membrane ruffling
  • interacting with RIPK1 (RIPK1 influences EGFR at the mRNA level by regulating the EGFR promoter)
  • stimulating ER phosphorylation on tyrosine and promoting the association of a complex between EGFR, AR/ER, and the kinase Src
  • CBL interacts with the autophosphorylated C-terminal tail of the EGF receptor
  • the autophoshorylated form interacts with PIK3C2B, maybe indirectly
  • key negative regulator of NOTCH1 gene expression in primary keratinocytes, intact epidermis and skin squamous cell carcinomas
  • interaction with ligands having differential effects of EGFR ligands on endocytic sorting of the receptor
  • USP18 overexpression elevated EGFR levels in a manner requiring the catalytic cysteine of USP18
  • interacting with MMP9 (initiates cross-talk between CD44 and EGFR, which in turn activates downstream effectors for cell migration)
  • functional interaction between IQGAP1 and EGFR, suggesting that IQGAP1 modulates EGFR activation
  • LGALS3-dependent regulation of MUC1/EGFR functions may represent an interesting mechanism modulating the EGFR-stimulated cell growth of pancreatic cancer cells
  • USP18 is a potent regulator of EGFR protein expression
  • interacting with dynamin and clathrin that are necessary first steps for translocation of EGFR to the nucleus
  • SRC-dependent link between CHKA and EGFR, which contributes to the regulation of cell proliferation and tumorigenesis
  • cooperation between the EGF/EGFR and PTGES leads to a significant tumorigenic gain in epithelial cells
  • APPL1 function as a downstream effector of EGF-initiated signaling
    • cell & other
    REGULATION
    activated by the formation of an asymmetric dimer in which the C-terminal lobe of one kinase domain plays a role analogous to that of cyclin in activated CDK/cyclin complexes
    by cholesterol depletion of plasma membranes
    inhibited by RIPK1
    GM3 (regulated by its lipid environment and in this context is specifically inhibited by interaction with the ganglioside GM3)
    repressed by ZGPAT recruiting NuRD complex to the promoter
    tubulin acetylation that negatively regulates EGFR levels
    Other phosphorylated by activated MAPK3/MAPK1 couple with the participation of IQGAP1
    VAV2 delays its internalization and degradation and enhances its phosphorylation
    regulation of EGFR vesicular trafficking and degradation by the microtubule deacetylase HDAC6
    regulated by N-glycosylation that controls ErbB signaling by various mechanisms
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in prostate carcinoma, brain astrocytomas and gliomas (tandemly duplicated
    tumoral   deletion    
    in brain glioblastoma
    tumoral somatic mutation      
    in malignant oral keratinocytes and in non-small cell lung cancer of non-smokers
    tumoral   amplification    
    short alleles of polymorphic CA repeat located at a 5-regulatory sequence in the intron 1 associated with increased expression in osteosarcoma
    tumoral   amplification    
    frequent alterations in primary melanomas and associated with bad prognosis
    tumoral     --over  
    correlated with poor prognosis in Glioblastoma multiforme patients
    Susceptibility to non-small cell lung cancer
    Variant & Polymorphism other germline mutation T790M in non-small cell lung cancer, mutation drug resistance, stimulating DNA synthesis and cytoskeletal rearrangement in breast cancer (MCF-7) and prostate cancer (LNCaP) cells
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    important target of cancer drug design (inhibition of EGFR signaling in cancer cells induces NOTCH1 gene expression through TP53)
    cancerlung 
    lung adenocarcinomas with activating mutations in EGFR often respond to treatment with EGFR tyrosine kinase inhibitors (TKIs), but the magnitude of tumour regression is variable and transient
    cancerhead and neck 
    dual blockade of MET and EGFR may be a promising clinical therapeutic strategy for treating HNSCC
    ANIMAL & CELL MODELS