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    ERBB2 erb-b2 receptor tyrosine kinase 2 [ Homo sapiens (human) ]

    Gene ID: 2064, updated on 7-Feb-2016
    Official Symbol
    ERBB2provided by HGNC
    Official Full Name
    erb-b2 receptor tyrosine kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:3430
    See related
    Ensembl:ENSG00000141736; HPRD:01281; MIM:164870; Vega:OTTHUMG00000179300
    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
    NEU; NGL; HER2; TKR1; CD340; HER-2; MLN 19; HER-2/neu
    Summary
    This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
    Orthologs
    See ERBB2 in Epigenomics, MapViewer
    Location:
    17q12
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (39688084..39728662)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37844167..37884915)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phenylethanolamine N-methyltransferase Neighboring gene post-GPI attachment to proteins 3 Neighboring gene microRNA 4728 Neighboring gene migration and invasion enhancer 1 Neighboring gene growth factor receptor bound protein 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Glioma susceptibility 1
    MedGen: C2750850 OMIM: 137800 GeneReviews: Not available
    Compare labs
    Lung cancer
    MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Neoplasm of stomach
    MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
    Compare labs
    Pertuzumab response
    MedGen: CN233145 GeneReviews: Not available
    not available
    Trastuzumab response
    MedGen: CN078025 GeneReviews: Not available
    not available
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    • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
    • SHC1 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in ERBB2 signaling, organism-specific biosystemAll ERBB2 heterodimers, ERBB2:EGFR, ERBB2:ERBB3 and ERBB2:ERBB4, are able to activate RAF/MAP kinase cascade by recruiting SHC1 (Pinkas-Kramarski et al. 1996, Sepp-Lorenzino et al. 1996) to phosphory...
    • SHC1 events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in ERBB4 signaling, organism-specific biosystemAll splicing isoforms of ERBB4 possess two tyrosine residues in the C-tail that serve as docking sites for SHC1 (Kaushansky et al. 2008, Pinkas-Kramarski et al. 1996, Cohen et al. 1996). Once bound t...
    • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
      SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
    • Sema4D in semaphorin signaling, organism-specific biosystem (from REACTOME)
      Sema4D in semaphorin signaling, organism-specific biosystemSemaphorin 4D (Sema 4D/CD100) is an axon guidance molecule with two disulfide-linked 150-kDa subunits. SEMA4D is structurally defined by a conserved 500-amino acid extracellular domain with 16 cyste...
    • Sema4D induced cell migration and growth-cone collapse, organism-specific biosystem (from REACTOME)
      Sema4D induced cell migration and growth-cone collapse, organism-specific biosystemSema4D-mediated attraction of endothelial cells requires Rho, but not R-Ras, signaling. Sema4D-mediated plexinB1 activation activates Rho and its downstream effector ROCK. ROCK then phosphorylates ML...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR2, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR4, organism-specific biosystem (from REACTOME)
      Signaling by FGFR4, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
      Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
    • Signalling to RAS, organism-specific biosystem (from REACTOME)
      Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
      Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
      VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      a6b1 and a6b4 Integrin signaling, organism-specific biosystem
      a6b1 and a6b4 Integrin signaling
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ErbB-3 class receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase I core binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    receptor signaling protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    Ras protein signal transduction TAS
    Traceable Author Statement
    more info
     
    activation of MAPKK activity TAS
    Traceable Author Statement
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme linked receptor protein signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    motor neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    myelination IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of immature T cell proliferation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation TAS
    Traceable Author Statement
    more info
     
    peripheral nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol 3-kinase signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein targeting to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase I promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase III promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of microtubule-based process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    receptor tyrosine-protein kinase erbB-2
    Names
    c-erb B2/neu protein
    herstatin
    human epidermal growth factor receptor 2
    metastatic lymph node gene 19 protein
    neuro/glioblastoma derived oncogene homolog
    neuroblastoma/glioblastoma derived oncogene homolog
    p185erbB2
    proto-oncogene Neu
    proto-oncogene c-ErbB-2
    tyrosine kinase-type cell surface receptor HER2
    v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
    v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2
    v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog
    NP_001005862.1
    NP_001276865.1
    NP_001276866.1
    NP_001276867.1
    NP_004439.2

    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_007503.1 RefSeqGene

      Range
      4945..45523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_724

    mRNA and Protein(s)

    1. NM_001005862.2NP_001005862.1  receptor tyrosine-protein kinase erbB-2 isoform b

      See identical proteins and their annotated locations for NP_001005862.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK295195, BC080193, BC110392, BM678576
      Consensus CDS
      CCDS45667.1
      UniProtKB/Swiss-Prot
      P04626
      Related
      ENSP00000462438, OTTHUMP00000261067, ENST00000584601, OTTHUMT00000445614
      Conserved Domains (7) summary
      cd12094
      Location:611654
      TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
      cd00064
      Location:205250
      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:159313
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:22143
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:690946
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14843
      Location:481613
      GF_recep_IV; Growth factor receptor domain IV
      cd05109
      Location:682960
      PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    2. NM_001289936.1NP_001276865.1  receptor tyrosine-protein kinase erbB-2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (c) has a distinct and shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK295195, BC080193, BM678576
      Consensus CDS
      CCDS74052.1
      UniProtKB/Swiss-Prot
      P04626
      Related
      ENSP00000446466, ENST00000541774
      Conserved Domains (7) summary
      cd12094
      Location:626669
      TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
      cd00064
      Location:220265
      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:174328
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:37158
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:705961
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14843
      Location:496628
      GF_recep_IV; Growth factor receptor domain IV
      cd05109
      Location:697975
      PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    3. NM_001289937.1NP_001276866.1  receptor tyrosine-protein kinase erbB-2 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which results in a translational frameshift, compared to variant 1. The resulting isoform (d) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AK313683, BC080193, BM678576, DC346286
      Consensus CDS
      CCDS77016.1
      UniProtKB/TrEMBL
      J3QLU9
      Related
      ENSP00000463714, OTTHUMP00000261070, ENST00000584450, OTTHUMT00000445618
      Conserved Domains (7) summary
      cd12094
      Location:641684
      TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
      cd00064
      Location:235280
      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:189343
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:52173
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:720976
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14843
      Location:511643
      GF_recep_IV; Growth factor receptor domain IV
      cd05109
      Location:712990
      PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    4. NM_001289938.1NP_001276867.1  receptor tyrosine-protein kinase erbB-2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. The resulting isoform (e) has a shorter N-terminus and a truncated C-terminus, compared to isoform a.
      Source sequence(s)
      AK295195, BC110392
      Consensus CDS
      CCDS77017.1
      UniProtKB/TrEMBL
      F5H1T4
      UniProtKB/Swiss-Prot
      P04626
      Related
      ENSP00000462808, OTTHUMP00000261068, ENST00000578199, OTTHUMT00000445616
      Conserved Domains (4) summary
      cd00064
      Location:205250
      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:159313
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:22143
      Recep_L_domain; Receptor L domain
      pfam14843
      Location:481603
      GF_recep_IV; Growth factor receptor domain IV
    5. NM_004448.3NP_004439.2  receptor tyrosine-protein kinase erbB-2 isoform a precursor

      See identical proteins and their annotated locations for NP_004439.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BM678576, DC346286, X03363
      Consensus CDS
      CCDS32642.1
      UniProtKB/Swiss-Prot
      P04626
      UniProtKB/TrEMBL
      X5DNK3
      Related
      ENSP00000269571, OTTHUMP00000261072, ENST00000269571, OTTHUMT00000445621
      Conserved Domains (7) summary
      cd12094
      Location:641684
      TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
      cd00064
      Location:235280
      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:189343
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:52173
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:720976
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14843
      Location:511643
      GF_recep_IV; Growth factor receptor domain IV
      cd05109
      Location:712990
      PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2

    RNA

    1. NR_110535.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC080193, BM678576, HY033940
      Related
      ENST00000578373, OTTHUMT00000445622

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      39688084..39728662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      38080121..38120667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)