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    EGFR epidermal growth factor receptor [ Homo sapiens (human) ]

    Gene ID: 1956, updated on 9-Oct-2021

    Summary

    Official Symbol
    EGFRprovided by HGNC
    Official Full Name
    epidermal growth factor receptorprovided by HGNC
    Primary source
    HGNC:HGNC:3236
    See related
    Ensembl:ENSG00000146648 MIM:131550
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERBB; ERRP; HER1; mENA; ERBB1; PIG61; NISBD2
    Summary
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
    Expression
    Broad expression in placenta (RPKM 36.6), skin (RPKM 15.6) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EGFR in Genome Data Viewer
    Location:
    7p11.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (55019017..55211628)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55086710..55279321)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SEC61G divergent transcript Neighboring gene negCOR silencer S2 Neighboring gene Rho GTPase activating protein 5 pseudogene Neighboring gene uncharacterized LOC105375284 Neighboring gene EGFR antisense RNA 1 Neighboring gene solute carrier family 19 member 3 pseudogene Neighboring gene calmodulin 1 pseudogene 2 Neighboring gene EGFR long non-coding downstream RNA

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cetuximab response
    MedGen: CN077967 GeneReviews: Not available
    Compare labs
    Chromosome 7p11.2 (EGFR) variation influences glioma risk.
    GeneReviews: Not available
    Inflammatory skin and bowel disease, neonatal, 2
    MedGen: C4015130 OMIM: 616069 GeneReviews: Not available
    Compare labs
    Lung cancer
    MedGen: C0242379 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Panitumumab response
    MedGen: CN077999 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of epidermal growth factor receptor (EGFR) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Expression of HIV-1 Gag decreases the rate of EGFR downregulation by ESCRT proteins at endosomal membranes, an effect that is dependent on the presence of the TSG101 binding motif (PTAP) within the Gag C-terminal p6 domain PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables MAP kinase kinase kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables epidermal growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables epidermal growth factor-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables epidermal growth factor-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables epidermal growth factor-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables epidermal growth factor-activated receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to nitric-oxide synthase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of phospholipase A2 activity by calcium-mediated signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in activation of phospholipase C activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in astrocyte activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to cadmium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to epidermal growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to estradiol stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to reactive oxygen species IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in diterpenoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cardiocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron projection morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ovulation cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptidyl-tyrosine autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NIK/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of mucus secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of nitric oxide mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of production of miRNAs involved in gene silencing by miRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of prolactin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein kinase C activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of superoxide anion generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein insertion into membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of nitric-oxide synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to UV-A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cobalamin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydroxyisoflavone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to osmotic stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in tongue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of Shc-EGFR complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in basal plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in multivesicular body, internal vesicle lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    epidermal growth factor receptor
    Names
    EGFR vIII
    avian erythroblastic leukemia viral (v-erb-b) oncogene homolog
    cell growth inhibiting protein 40
    cell proliferation-inducing protein 61
    epidermal growth factor receptor tyrosine kinase domain
    erb-b2 receptor tyrosine kinase 1
    proto-oncogene c-ErbB-1
    receptor tyrosine-protein kinase erbB-1
    NP_001333826.1
    NP_001333827.1
    NP_001333828.1
    NP_001333829.1
    NP_001333870.1
    NP_005219.2
    NP_958439.1
    NP_958440.1
    NP_958441.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007726.3 RefSeqGene

      Range
      5001..193307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_304

    mRNA and Protein(s)

    1. NM_001346897.2NP_001333826.1  epidermal growth factor receptor isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the 5' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. The encoded isoform (e) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC006977, AC073324, BC094761
      Consensus CDS
      CCDS87507.1
      UniProtKB/TrEMBL
      Q504U8
      Related
      ENSP00000415559.1, ENST00000455089.5
    2. NM_001346898.2NP_001333827.1  epidermal growth factor receptor isoform f precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has a 3' terminal exon that extends past a splice site that is used in variant 1. The encoded isoform (f) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC006977, AC073324, BC094761, GU255993, HQ912715
      UniProtKB/TrEMBL
      E7BSV0, F2YGG7, Q504U8
    3. NM_001346899.2NP_001333828.1  epidermal growth factor receptor isoform g precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (g) is shorter than isoform a.
      Source sequence(s)
      AC006977, AC073324, AW450657, BC094761, DA371223, HQ912715
      Consensus CDS
      CCDS87506.1
      UniProtKB/TrEMBL
      E9PFD7, F2YGG7, Q504U8
      Related
      ENSP00000395243.3, ENST00000454757.6
    4. NM_001346900.2NP_001333829.1  epidermal growth factor receptor isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses a novel 5' terminal exon compared to variant 1. The encoded isoform (h) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC006977, AC073324, AK294750, AW450657, DA371223, DC347326, HQ912715
      UniProtKB/TrEMBL
      B7Z2I3, F2YGG7
    5. NM_001346941.2NP_001333870.1  epidermal growth factor receptor isoform i precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (EGFRvIII, also known as delta-EGFR and de2-7EGFR) has an in-frame deletion of six exons in the 5' coding region, compared to variant 1. The encoded isoform (i) has a shorter extracellular domain compared to isoform a. This variant is considered to be tumorigenic and the encoded protein lacks normal ligand binding ability and is constitutively active (PMID: 23777544).
      Source sequence(s)
      AC006977, AC073324
    6. NM_005228.5NP_005219.2  epidermal growth factor receptor isoform a precursor

      See identical proteins and their annotated locations for NP_005219.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC006977, AC073324, AF125253, AU137334, AW450657, BC094761, DA371223, HQ912715, X00588
      Consensus CDS
      CCDS5514.1
      UniProtKB/Swiss-Prot
      P00533
      UniProtKB/TrEMBL
      F2YGG7, Q504U8
      Related
      ENSP00000275493.2, ENST00000275493.7
      Conserved Domains (8) summary
      smart00219
      Location:713968
      TyrKc; Tyrosine kinase, catalytic domain
      cd12093
      Location:634677
      TM_ErbB1; Transmembrane domain of Epidermal Growth Factor Receptor or ErbB1, a Protein Tyrosine Kinase
      smart00261
      Location:552598
      FU; Furin-like repeats
      cd00064
      Location:231274
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      cd05108
      Location:7041016
      PTKc_EGFR; Catalytic domain of the Protein Tyrosine Kinase, Epidermal Growth Factor Receptor
      pfam00757
      Location:185335
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:57168
      Recep_L_domain; Receptor L domain
      pfam14843
      Location:505637
      GF_recep_IV; Growth factor receptor domain IV
    7. NM_201282.2NP_958439.1  epidermal growth factor receptor isoform b precursor

      See identical proteins and their annotated locations for NP_958439.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different 3' terminal exon when compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus. Only the extracellular domain is present in isoform b.
      Source sequence(s)
      AC006977, AF125253, AF277897, AW163038, X00588
      Consensus CDS
      CCDS5516.1
      UniProtKB/Swiss-Prot
      P00533
      Related
      ENSP00000342376.3, ENST00000342916.7
      Conserved Domains (5) summary
      smart00261
      Location:552598
      FU; Furin-like repeats
      cd00064
      Location:231274
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00757
      Location:185335
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:57168
      Recep_L_domain; Receptor L domain
      pfam14843
      Location:505627
      GF_recep_IV; Growth factor receptor domain IV
    8. NM_201283.2NP_958440.1  epidermal growth factor receptor isoform c precursor

      See identical proteins and their annotated locations for NP_958440.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as ErbB1-S) uses a different 3' terminal exon when compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus. Only the extracellular domain is present in isoform c.
      Source sequence(s)
      AC006977, AW163038, U48722, X00588
      Consensus CDS
      CCDS47587.1
      UniProtKB/Swiss-Prot
      P00533
      Related
      ENSP00000413843.2, ENST00000420316.6
      Conserved Domains (3) summary
      cd00064
      Location:231274
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00757
      Location:185335
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:57168
      Recep_L_domain; Receptor L domain
    9. NM_201284.2NP_958441.1  epidermal growth factor receptor isoform d precursor

      See identical proteins and their annotated locations for NP_958441.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses a different 3' terminal exon when compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus. Only the extracellular domain is present in isoform d.
      Source sequence(s)
      AC006977, AF125253, AW163038, X00588
      Consensus CDS
      CCDS5515.1
      UniProtKB/Swiss-Prot
      P00533
      Related
      ENSP00000345973.2, ENST00000344576.7
      Conserved Domains (5) summary
      smart00261
      Location:552598
      FU; Furin-like repeats
      cd00064
      Location:231274
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00757
      Location:185335
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:57168
      Recep_L_domain; Receptor L domain
      pfam14843
      Location:505627
      GF_recep_IV; Growth factor receptor domain IV

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      55019017..55211628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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