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ERBB2 Gene

protein-coding   GIFtS: 79
GCID: GC17P037844

V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog...

(Previous name: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog...)
(Previous symbol: NGL)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 21 2     CD3402
NGL1 2 3 5     HER-22
HER22 3 5     HER-2/neu2
NEU2 3 5     TKR12
Neuro/Glioblastoma Derived Oncogene Homolog1 2     C-Erb B2/Neu Protein2
Metastatic Lymph Node Gene 19 Protein2 3     herstatin2
Proto-Oncogene C-ErbB-22 3     Neuroblastoma/Glioblastoma Derived Oncogene Homolog2
Proto-Oncogene Neu2 3     Receptor Tyrosine-Protein Kinase ErbB-22
Tyrosine Kinase-Type Cell Surface Receptor HER22 3     V-Erb-B2 Erythroblastic Leukemia Viral Oncogene Homolog 2,
Neuro/Glioblastoma Derived Oncogene Homolog2
MLN 192 3     MLN193
p185erbB22 3     CD340 Antigen3
EC 2.7.10.13 8     EC 2.7.108
V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 2
(Neuro/Glioblastoma Derived Oncogene Homolog)1
     

External Ids:    HGNC: 34301   Entrez Gene: 20642   Ensembl: ENSG000001417367   OMIM: 1648705   UniProtKB: P046263   

Export aliases for ERBB2 gene to outside databases

Previous GC identifers: GC17P037262 GC17P039854 GC17P037766 GC17P038231 GC17P035109 GC17P033638


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERBB2 Gene:
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)

GeneCards Summary for ERBB2 Gene:
ERBB2 (v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2) is a protein-coding gene. Diseases associated with ERBB2 include ductal carcinoma in situ, and breast scirrhous carcinoma. GO annotations related to this gene include protein C-terminus binding and identical protein binding. An important paralog of this gene is SYK.

UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626
Function: Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently
needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins
do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and
stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway
elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation
of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the
localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization
Function: In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in
the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the
function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein
synthesis and cell growth

summary for ERBB2 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 is initiated by ligand binding to the extracellular ligand binding domain. This initiates
receptor homo-/hetero-dimerization and autophosphorylation by the intracellular kinase domain, resulting in
receptor activation. Following activation, phosphorylation of cytoplasmic substrates occurs and a signaling
cascade is initiated that drives many cellular responses, including changes in gene expression, cytoskeletal
rearrangement, anti-apoptosis and increased cell proliferation.

Gene Wiki entry for ERBB2 (HER2/neu) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERBB2 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ERBB2 promoter sequence
   Search Chromatin IP Primers for ERBB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERBB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q11.2-q12

ERBB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERBB2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P037844:  view genomic region     (about GC identifiers)

Start:
37,844,167 bp from pter      End:
37,886,679 bp from pter
Size:
42,513 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626 (See protein sequence)
Recommended Name: Receptor tyrosine-protein kinase erbB-2 precursor  
Size: 1255 amino acids; 137910 Da
Subunit: Homodimer. Heterodimer with EGFR, ERBB3 and ERBB4. Part of a complex with EGFR and either PIK3C2A or
PIK3C2B. May interact with PIK3C2B when phosphorylated on Tyr-1196. Interacts with PRKCABP and PLXNB1. Interacts
(when phosphorylated on Tyr-1248) with MEMO1. Interacts with MUC1; the interaction is enhanced by heregulin
(HRG). Interacts (when phosphorylated on Tyr-1139) with GRB7 (via SH2 domain). Interacts (when phosphorylated on
Tyr-1248) with ERBB2IP. Interacts with KPNB1, RANBP2, EEA1, CRM1, CLTC, PTK6, RPA94 and ACTB. Interacts with SRC
(By similarity)
Selected PDB 3D structures from and Proteopedia for ERBB2 (see all 21):
1MFG (3D)        1MFL (3D)        1MW4 (3D)        1N8Z (3D)        1OVC (3D)        1QR1 (3D)    
Secondary accessions: B2RZG3 B4DHN3 Q14256 Q6LDV1 Q9UMK4
Alternative splicing, Alternative initiation: 4 isoforms:  P04626-1   P04626-2   P04626-3   P04626-4   (Produced by alternative splicing of isoform 1)

Explore the universe of human proteins at neXtProt for ERBB2: NX_P04626

Explore proteomics data for ERBB2 at MOPED

Post-translational modifications: 

  • Autophosphorylated. Ligand-binding increases phosphorylation on tyrosine residues. Autophosphorylation occurs in
    trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Signaling
    via SEMA4C promotes phosphorylation at Tyr-12481
  • Ubiquitination2 at Lys724, Lys736, Lys747, Lys753, Lys860
  • Glycosylation2 at Asn68, Asn124, Asn187, Asn259, Asn530, Asn571, Asn629
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ERBB2 (P04626) (see all 35)
     KPYDGIP  RDLAARN  AENPEYL  MARDPQR 


    See ERBB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001005862.1  NP_001276865.1  NP_001276866.1  NP_001276867.1  NP_004439.2  

    ENSEMBL proteins: 
     ENSP00000462438   ENSP00000462808   ENSP00000404047   ENSP00000463714   ENSP00000462024  
     ENSP00000463427   ENSP00000269571   ENSP00000463719   ENSP00000462270   ENSP00000464420  
     ENSP00000464252   ENSP00000463002   ENSP00000446466   ENSP00000385185   ENSP00000443562  
     ENSP00000446382  
    Reactome Protein details: P04626

    ERBB2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ERBB2 (ErbB2/Her2)
    Enzo Life Sciences proteins for ERBB2
    OriGene Purified Proteins for ERBB2
    OriGene Protein Over-expression Lysate for ERBB2
    OriGene MassSpec for ERBB2
    OriGene Custom Protein Services for ERBB2
    GenScript Custom Purified and Recombinant Proteins Services for ERBB2
    Novus Biologicals ERBB2 Proteins
    Novus Biologicals ERBB2 Lysate
    Sino Biological Recombinant Protein for ERBB2
    Sino Biological Cell Lysate for ERBB2
    ProSpec Recombinant Protein for ERBB2
    Browse Proteins at Cloud-Clone Corp.

    ERBB2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ERBB2
    R&D Systems Antibodies for ERBB2 (ErbB2/Her2)
    Cell Signaling Technology (CST) Antibodies for ERBB2  (HER2)
    OriGene Antibodies for ERBB2
    OriGene Custom Antibody Services for ERBB2
    Novus Biologicals ERBB2 Antibodies
    Abcam antibodies for ERBB2
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ERBB2
    LSBio Antibodies in human, mouse, rat for ERBB2

    ERBB2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ERBB2
    R&D Systems ELISAs for ERBB2 (ErbB2/Her2)         (see all)
    GenScript Custom Assay Services for ERBB2
    Cell Signaling Technology (CST) Sandwich ELISA Kits for ERBB2 (HER2)
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
    ErbB (epidermal growth factor) receptor family

    Selected InterPro protein domains (see all 11):
     IPR017441 Protein_kinase_ATP_BS
     IPR006212 Furin_repeat
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_dom
     IPR000494 EGF_rcpt_L

    Graphical View of Domain Structure for InterPro Entry P04626

    ProtoNet protein and cluster: P04626

    5 Blocks protein domains:
    IPB000494 Epidermal growth-factor receptor (EGFR)
    IPB004019 YLP motif
    IPB006211 Furin-like cysteine rich region
    IPB006212 Furin-like repeat
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily
    Similarity: Contains 1 protein kinase domain


    ERBB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERBB2_HUMAN, P04626
    Function: Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently
    needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins
    do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and
    stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway
    elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation
    of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the
    localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization
    Function: In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in
    the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the
    function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein
    synthesis and cell growth
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Activated by dimerization. Not activated by EGF, TGF-alpha and amphiregulin. Interaction with
    PTK6 increases its intrinsic kinase activity

         Genatlas biochemistry entry for ERBB2:
    avian erythroblastic leukemia viral (v-erb-b) oncogene homolog 2,HERC2/neu receptor tyrosine
    kinase,neuroglioblastoma derived,constitutively acting as a coreceptor for multiple stroma-derived growth factors
    i.e EGF-like ligands and neuregulins after heterodimerization with other ERBBs,involved in androgen receptor
    transactivation of inducing prostate-specific antigen (PSA) through the MAP kinase pathway,signal transducer,also
    presenting as a secreted transcript herstatin,expressed in normal fetal kidney and liver,potential inhibitor of
    ERBB2,commonly amplified in primary breast cancer and in endometrial cancer,coamplified with GRB7 in primary
    gastric cancer,and in prostate carcinoma with metastasis and poor prognosis

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001042RNA polymerase I core binding IDA--
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity TAS--
    GO:0004714transmembrane receptor protein tyrosine kinase activity IDA7514177
    GO:0004716receptor signaling protein tyrosine kinase activity IEA--
         
    ERBB2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ERBB2:
     Decreased focal adhesion (FA)   Decreased viability with pacli 

         Selected MGI mutant phenotypes (inferred from 17 alleles(MGI details for Erbb2) (see all 19):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    ERBB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ERBB2: Erbb2tm1Vrtn Erbb2tm1Gne Erbb2tm2Mul Erbb2tm1Haus Erbb2tm2.1Cbm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERBB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERBB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERBB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERBB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ERBB2:
    hsa-mir-124-3p (MIRT023179), hsa-mir-326 (MIRT043637), hsa-mir-559 (MIRT000036), hsa-mir-21-5p (MIRT004318), hsa-mir-125b-5p (MIRT002939), hsa-mir-125a-5p (MIRT005118), hsa-mir-331-3p (MIRT005805), hsa-mir-199a-5p (MIRT007265), hsa-mir-205-5p (MIRT006982), hsa-mir-548d-3p (MIRT000037), hsa-mir-199b-5p (MIRT007152)

    Block miRNA regulation of human, mouse, rat ERBB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERBB2 (see all 11):
    hsa-miR-548d-3p hsa-miR-3664-5p hsa-miR-452* hsa-miR-3921 hsa-miR-221* hsa-miR-146a* hsa-miR-593 hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidERBB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERBB2
    Predesigned siRNA for gene silencing in human, mouse, rat ERBB2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERBB2

    Clone
    Products:
         
    OriGene clones in human, mouse for ERBB2 (see all 16)
    OriGene ORF clones in mouse, rat for ERBB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERBB2 (NM_004448)
    Sino Biological Human cDNA Clone for ERBB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERBB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERBB2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ERBB2
    Browse ESI BIO Cell Lines and PureStem Progenitors for ERBB2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERBB2_HUMAN, P04626: Isoform 1: Cell membrane; Single-pass type I membrane protein. Cytoplasm, perinuclear
    region. Nucleus. Note=Translocation to the nucleus requires endocytosis, probably endosomal sorting and is
    mediated by importin beta-1/KPNB1
    ERBB2_HUMAN, P04626: Isoform 2: Cytoplasm. Nucleus
    ERBB2_HUMAN, P04626: Isoform 3: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    plasma membrane5
    cytoskeleton3
    extracellular3
    cytosol2
    endoplasmic reticulum2
    lysosome1
    mitochondrion1
    peroxisome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0010008endosome membrane IDA16314522
    GO:0016020membrane ----

    ERBB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ERBB2 About   (see all 55)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1ErbB signaling pathway
    ErbB signaling pathway0.52
    EGFR Inhibitor Pathway, Pharmacodynamics0.49
    ErbB signaling pathway0.52
    ErbB receptor signaling network0.00
    2Development EGFR signaling pathway
    Development EGFR signaling pathway0.57
    EGF Pathway0.39
    Development ERBB family signaling0.57
    GRB7 events in ERBB2 signaling0.00
    3Glioma
    Non-small cell lung cancer0.51
    Signaling Pathways in Glioblastoma0.36
    Prostate cancer0.39
    Bladder cancer0.31
    4Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    5Signaling by FGFR
    Signaling by FGFR0.91
    Signaling by PDGF0.87
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.83
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR in Cancer0.82
    Downstream signal transduction0.90
    NGF signalling via TRKA from the plasma membrane0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ERBB2
        Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERBB2 (see all 38)
        Paxillin Interactions
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    JNK Pathway
    Tec Kinases Signaling

    1 Cell Signaling Technology (CST) Pathway for ERBB2
        Tyrosine Kinases / Adaptors

    4 Tocris Bioscience Pathways for ERBB2
        Akt Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    MAPK Pathway

    Selected GeneGo (Thomson Reuters) Pathways for ERBB2 (see all 8)
        Development ERBB-family signaling
    Development Ligand-independent activation of ESR1 and ESR2
    Apoptosis and survival Role of CDK5 in neuronal death and survival
    Development EGFR signaling via PIP3
    Development EGFR signaling pathway

    Selected BioSystems Pathways for ERBB2 (see all 14)
        Focal Adhesion
    DNA damage response (only ATM dependent)
    ErbB signaling pathway
    Signaling Pathways in Glioblastoma
    Alpha6-Beta4 Integrin Signaling Pathway

    1 Sino Biological Pathway for ERBB2
        EGFR Signaling Pathway

    Selected Reactome Pathways for ERBB2 (see all 10)
        Downregulation of ERBB2:ERBB3 signaling
    GRB7 events in ERBB2 signaling
    GRB2 events in ERBB2 signaling
    PI3K events in ERBB2 signaling
    SHC1 events in ERBB2 signaling

    1 PharmGKB Pathway for ERBB2
        EGFR Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ERBB2) (see all 13):
        ErbB signaling pathway
    Calcium signaling pathway
    HIF-1 signaling pathway
    Focal adhesion
    Adherens junction


    ERBB2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERBB2 (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERBB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ERBB2 (P046261, 2, 3 ENSP000002695714) via UniProtKB, MINT, STRING, and/or I2D (see all 358)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R3Q925691, 2, 3, ENSP000002627414EBI-641062,EBI-79893 MINT-74664 MINT-74642 MINT-74650 MINT-74662 MINT-74660 MINT-74649 MINT-74663 MINT-74641 MINT-74661 I2D: score=2 STRING: ENSP00000262741
    PIK3R2O004591, 2, 3, ENSP000002222544EBI-641062,EBI-346930 MINT-74622 MINT-74623 MINT-74620 MINT-74631 MINT-74621 MINT-61505 MINT-74632 I2D: score=5 STRING: ENSP00000222254
    SYKP434051, 2, 3, ENSP000003648984EBI-641062,EBI-78302 MINT-74765 MINT-74767 MINT-74769 MINT-74758 MINT-74768 MINT-74764 MINT-74766 I2D: score=2 STRING: ENSP00000364898
    SHC1P293531, 2, 3, ENSP000004013034EBI-641062,EBI-78835 MINT-61510 MINT-61506 MINT-74737 MINT-61504 MINT-74734 MINT-74736 MINT-61508 MINT-74733 MINT-74735 MINT-61511 I2D: score=8 STRING: ENSP00000401303
    RASA1P209361, 2, 3, ENSP000002743764EBI-641062,EBI-1026476 MINT-74698 MINT-74702 MINT-74697 MINT-74701 MINT-74699 MINT-74712 MINT-74700 I2D: score=2 STRING: ENSP00000274376
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006468protein phosphorylation TAS10851066
    GO:0007165signal transduction IDA10572067
    GO:0007166cell surface receptor signaling pathway IDA9685399

    ERBB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ERBB2
      Browse compounds at ApexBio 

    Compounds for ERBB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Iressa Orally active, selective EGFR inhibitor [184475-35-2]
    AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor [133550-30-8]
    JNJ 28871063 hydrochloridePotent ErbB receptor family inhibitor[944341-54-2]
    AG 1478 hydrochlorideHighly potent EGFR-kinase inhibitor[153436-53-4]
    GenisteinEGFR kinase inhibitor. Also estrogen and PPARgamma ligand[446-72-0]

    2 HMDB Compounds for ERBB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    5 DrugBank Compounds for ERBB2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LapatinibFMM (see all 5)388082-78-8targetantagonist15163842 14751502 16894399 20110044 12214266 18803986 14967461 14737100 11752352 20658522 15374980 14633707
    TrastuzumabAnti HER2 (see all 2)180288-69-1targetantibody17660958 11752352 18690878 11098307
    ado-trastuzumab emtansineRG-3502 (see all 4)1018448-65-targetantibody23196784 11752352 19010901
    Pertuzumab2C4 Antibody (see all 6)380610-27-5targetantibody15093539
    Afatinib-- 850140-72-6targetinhibitor--

    Selected Novoseek inferred chemical compound relationships for ERBB2 gene (see all 125)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trastuzumab 97.1 2051 16865596 (9), 16161043 (7), 16384610 (7), 15780499 (6) (see all 99)
    lapatinib 91.7 285 17635524 (6), 18413839 (5), 19309723 (5), 19060928 (4) (see all 99)
    estrogen 88.7 1465 7591267 (7), 1680817 (6), 7647336 (6), 12375012 (5) (see all 99)
    progesterone 87.8 1122 1345772 (5), 15743737 (5), 16085689 (4), 15979129 (4) (see all 99)
    cb 11 87.4 81 16373062 (4), 11759828 (3), 12669615 (2), 19305385 (2) (see all 54)
    tyrosine 86.1 1292 1706346 (7), 16287490 (6), 11774167 (6), 11526509 (5) (see all 99)
    pertuzumab 84.5 77 19920829 (6), 15093539 (4), 17635517 (3), 17237269 (3) (see all 32)
    gefitinib 82.5 175 17487844 (5), 17638894 (5), 11751413 (4), 12860941 (3) (see all 70)
    tamoxifen 76.8 327 11774281 (6), 15319565 (6), 17636399 (6), 11032587 (6) (see all 99)
    erlotinib 74.7 38 17283159 (3), 17094474 (3), 16373709 (2), 20130423 (1) (see all 23)

    5 PharmGKB related drug/compound annotations for ERBB2 gene    About this table
    Drug/compound PharmGKB Annotation
    Pertuzumab
    everolimus
    lapatinib
    trastuzumab  CA  
    trastuzumab emtansine



    ERBB2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for ERBB2 gene (5 alternative transcripts): 
    NM_001005862.2  NM_001289936.1  NM_001289937.1  NM_001289938.1  NM_004448.3  

    Unigene Cluster for ERBB2:

    V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
    Hs.446352  [show with all ESTs]
    Unigene Representative Sequence: NM_001005862
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000584601 ENST00000584014 ENST00000578199(uc002hsl.3) ENST00000445658
    ENST00000584450 ENST00000582648 ENST00000582788 ENST00000578373 ENST00000269571
    ENST00000584908(uc002hsn.1) ENST00000578709 ENST00000584099 ENST00000583038
    ENST00000583391 ENST00000578502 ENST00000582818 ENST00000578630 ENST00000584684

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ERBB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERBB2 (see all 11):
    hsa-miR-548d-3p hsa-miR-3664-5p hsa-miR-452* hsa-miR-3921 hsa-miR-221* hsa-miR-146a* hsa-miR-593 hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidERBB2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ERBB2
    Predesigned siRNA for gene silencing in human, mouse, rat ERBB2
    Clone
    Products:
         
    OriGene clones in human, mouse for ERBB2 (see all 16)
    OriGene ORF clones in mouse, rat for ERBB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERBB2 (NM_004448)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERBB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERBB2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ERBB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERBB2
      QuantiTect SYBR Green Assays in human, mouse, rat ERBB2
      QuantiFast Probe-based Assays in human, mouse, rat ERBB2

    Additional mRNA sequence: 

    AB025286.1 AF177761.2 AK296908.1 AK300321.1 AK309029.1 AK313683.1 BC080193.1 BC110392.1 
    BC167147.1 HM437238.1 M11730.1 S57296.1 X03363.1 

    Selected DOTS entries (see all 26):

    DT.100824047  DT.95088838  DT.120977168  DT.215753  DT.75117810  DT.97759791  DT.120977079  DT.95261294 
    DT.100824051  DT.100824052  DT.70100272  DT.100824048  DT.75167343  DT.95256387  DT.75191397  DT.91699968 
    DT.91727209  DT.92025980  DT.95090252  DT.100731961  DT.100738418  DT.120977138  DT.120977177  DT.40278576 

    Selected AceView cDNA sequences (see all 323):

    BM672297 BM758528 NM_004448 AW175620 BI755753 AA765693 BM789286 BM673607 
    BQ717097 AA760891 BM830170 CA445529 CA455141 M11730 BU931894 CA488792 
    AK131568 AA293095 BM795191 CD515356 BF589067 CA455074 AB025286 AA995651 

    GeneLoc Exon Structure

    6 Alternative Splicing Database (ASD) splice patterns (SP) for ERBB2 (see first 5)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                    -                                                                                   -                                                   
    SP2:                                                                                                        -                                                   
    SP3:                    -                                                                                                                                       
    SP4:                                                                                                                          -                                 
    SP5:                                                                                                                                                            
    SP6:                                                                                                                                                            

    ExUns: 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                
    SP6:                                -               


    ECgene alternative splicing isoforms for ERBB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ERBB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAAGGAAC
    ERBB2 Expression
    About this image


    ERBB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 6 entries
             Immature Schwann Cells Peripheral Nerve Domain
             Schwann-like cells
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Endocardial Cushion Cells Atrioventricular Endocardial Cushion
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Schwann Cells (Nervous System)    fully expand to see all 2 entries
             Schwann-like cells
    ERBB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERBB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446352

    UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626
    Tissue specificity: Expressed in a variety of tumor tissues including primary breast tumors and tumors from small
    bowel, esophagus, kidney and mouth

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERBB2 (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Angiogenesis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ERBB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERBB2
    QuantiTect SYBR Green Assays in human, mouse, rat ERBB2
    QuantiFast Probe-based Assays in human, mouse, rat ERBB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for ERBB2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Erbb21 , 5 v-erb-b2 erythroblastic leukemia viral oncogene homolog more1, 5 85.6(n)1
    87.73(a)1
      11 (61.75 cM)5
    138661  NM_001003817.11  NP_001003817.11 
     984124705 
    chicken
    (Gallus gallus)
    Aves ERBB21 v-erb-b2 erythroblastic leukemia viral oncogene homolog more 72.97(n)
    71.76(a)
      426130  NM_001044661.1  NP_001038126.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERBB26
    v-erb-b2 avian erythroblastic leukemia viral oncog...
    65(a)
    1 ↔ 1
    6(68362453-68402550)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.143902 Xenopus laevis transcribed sequence with moderate similarity more 76.71(n)    BM192617.1 
    zebrafish
    (Danio rerio)
    Actinopterygii erbb21 v-erb-b2 erythroblastic leukemia viral oncogene homolog more 60.77(n)
    59.31(a)
      386966  NM_200119.2  NP_956413.2 


    ENSEMBL Gene Tree for ERBB2 (if available)
    TreeFam Gene Tree for ERBB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for ERBB2 gene
    SYK2  TNK12  JAK32  JAK22  TNK22  TYK22  ERBB42  JAK12  
    ERBB32  PTK22  ZAP702  EGFR2  PTK2B2  
    Selected SIMAP similar genes for ERBB2 using alignment to 16 protein entries:     ERBB2_HUMAN (see all proteins) (see all similar genes):
    WARS    HER-2    TNFRSF17    TSEN2    ZNF564    ZNF737
    CRCP    ZNF100    EPHA4    APOD    FAM175A    HKR1
    NF2    UTY    ZNF738    CHID1    HMGA2    SHANK2

    ERBB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ERBB2_HUMAN, P04626: There are four alleles due to the variations in positions 654 and 655. Allele B1 (Ile-654/Ile-655)
    has a frequency of 0.782; allele B2 (Ile-654/Val-655) has a frequency of 0.206; allele B3 (Val-654/Val-655) has a
    frequency of 0.012


    Selected SNPs for ERBB2 (see all 1038)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289333691,2,,4
    CA gastric adenocarcinoma sample4 other138668203(+) TGGCTA/GGTGTG 4 S G mis1 ese30--------
    rs289333701,2,,4
    CAn ovarian cancer sample4 other138668584(+) TCCCAA/GCCATG 4 N S mis1 ese30--------
    rs289333681,2,,4
    CA glioblastoma sample4 other138669180(+) TGTGGA/GAGCTG 4 K E mis10--------
    VAR_0554324
    A lung adenocarcinoma sample4--see VAR_0554322 L P mis40--------
    rs18012011,2,,4
    C,Fnon-pathogenic138666791(+) CGTCCA/GTCATC 4 I V mis19Minor allele frequency- G:0.01MN NA EU 6283
    rs11362011,2,,4
    C,F,Hnon-pathogenic138666794(+) CCATCA/G/TTCTCT 4 I V mis146EA NS NA MN CSA EU 11776
    rs1406704461,2
    Cuntested138659357(+) CGCACC/G/TAAGCT 4 Q * stg11NA 4546
    rs1843397341,2
    --33641664(+) AAAAAA/TATATA 1 -- int10--------
    rs720599391,2
    C--33642047(+) ATATA-/AT/CA 
            
    TATAT
    1 -- int10--------
    rs713833771,2
    C--37847827(+) ATATAC/TACACA 1 -- int12Minor allele frequency- T:0.00NA 4

    HapMap Linkage Disequilibrium report for ERBB2 (37844167 - 37886679 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ERBB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2048CNV Insertion18451855
    nsv908219CNV Loss21882294
    nsv908207CNV Loss21882294
    esv275276CNV Loss21479260
    nsv528093CNV Loss19592680
    dgv3162n71CNV Loss21882294
    dgv40n68CNV Loss17160897
    nsv908214CNV Loss21882294
    dgv3165n71CNV Gain21882294
    esv274928CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): ERBB2
    Selected Site Specific Mutation Identification with PCR Assays for ERBB2 (see all 21):
    Cosmic IdAA Change
    684p.E914K
    13170p.D769H
    48358p.S310F
    686p.N857S
    683p.L755P
    Selected Site Specific Cancer Mutation PCR Panels containing ERBB2 (see all 11):
    ErbB2/HER2/neu Pathway
    Ovarian Cancer
    Cancer Comprehensive Panel 384HT
    Lung Cancer
    Oncogene Panel 384HT
    4 Copy Number PCR Panels containing ERBB2:
    Oncogenes & Tumor Suppressor Genes 384HC
    Breast Cancer
    WNT Signaling
    Kinases & Phosphatases
    SeqTarget long-range PCR primers for resequencing ERBB2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERBB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 164870   
    OMIM disorders: 211980  137800  613659  
    UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626
  • Hereditary diffuse gastric cancer (HDGC) [MIM:137215]: A cancer predisposition syndrome with increased
    susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly
    differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the
    stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby
    lymph nodes and organs. It also can metastasize to other parts of the body. Note=The gene represented in this
    entry is involved in disease pathogenesis
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from
    glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes,
    oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene
    represented in this entry is involved in disease pathogenesis
  • Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian
    tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the
    most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of
    late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form
    of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes:
    squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced
    stage and has a poor prognosis. Note=The gene represented in this entry is involved in disease pathogenesis
  • Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the
    esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It
    also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to
    adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types
    are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated
    infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually
    exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in
    sporadic disease. Note=The gene represented in this entry is involved in disease pathogenesis
  • Note=Chromosomal aberrations involving ERBB2 may be a cause gastric cancer. Deletions within 17q12 region
    producing fusion transcripts with CDK12, leading to CDK12-ERBB2 fusion leading to truncated CDK12 protein not
    in-frame with ERBB2

  • Selected diseases for ERBB2 (see all 215):    
    About MalaCards
    ductal carcinoma in situ    breast scirrhous carcinoma    lipid-rich carcinoma    glioblastoma, somatic
    uterine carcinosarcoma    transitional cell carcinoma    sinonasal undifferentiated carcinoma    invasive bladder transitional cell carcinoma
    hidradenocarcinoma    adenocarcinoma of lung, somatic    sclerosing adenosis of breast    glassy cell carcinoma of the cervix
    apocrine adenosis of breast    congenital pulmonary airway malformation    fallopian tube cancer    papillary serous adenocarcinoma
    gastroesophageal junction adenocarcinoma    bladder transitional cell carcinoma    progesterone-receptor negative breast cancer    ovarian cancer, somatic

    14 diseases from the University of Copenhagen DISEASES database for ERBB2:
    Breast cancer     Carcinoma     Ductal carcinoma in situ     Ovarian cancer
    Lung cancer     Endometrial cancer     Prostate cancer     Neutropenia
    Urinary bladder cancer     Colorectal cancer     Pancreatic cancer     Breast disease
    Diarrhea     Stomach cancer

    ERBB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ERBB2 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 94.7 5501 11489825 (9), 12132871 (7), 12755489 (7), 9363867 (7) (see all 99)
    breast carcinoma 92.4 1090 12973835 (6), 14669272 (6), 11579337 (5), 9698539 (5) (see all 99)
    carcinoma ductal 89.4 268 12481013 (6), 16169726 (4), 15696127 (3), 18681318 (3) (see all 99)
    tumors 88.5 5807 14612517 (8), 9563885 (7), 14696118 (7), 11888924 (7) (see all 99)
    breast cancer metastatic 88.3 404 11820721 (5), 11477443 (4), 15059359 (4), 10467326 (4) (see all 99)
    carcinoma 82.7 1015 12653946 (7), 20208479 (6), 12631216 (6), 18415713 (5) (see all 99)
    cancer 82.5 1385 11774202 (7), 18498074 (7), 16740724 (6), 12942124 (6) (see all 99)
    metastasis 81.3 960 17511881 (8), 15786420 (6), 15150568 (6), 11481385 (5) (see all 99)
    invasive ductal breast carcinoma 76.8 19 17908479 (2), 18390199 (2), 11106082 (1), 11561770 (1) (see all 14)
    carcinoma lobular 75.1 24 9563885 (1), 12152162 (1), 14659337 (1), 1374218 (1) (see all 22)

    Genetic Association Database (GAD): ERBB2
    Human Genome Epidemiology (HuGE) Navigator: ERBB2 (155 documents)
    Tumor Gene Database (TGDB): ERBB2

    Export disorders for ERBB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ERBB2 gene, integrated from 10 sources (see all 5159):
    (articles sorted by number of sources associating them with ERBB2)
        Utopia: connect your pdf to the dynamic
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    1. Association between HER2, TOP2A, and response to anthracycline-based preoperative chemotherapy in high-risk primary breast cancer. (PubMed id 20130985)1, 4, 9 Konecny G.E....Slamon D.J. (Breast Cancer Res. Treat. 2010)
    2. The genetic polymorphisms of HER-2 and the risk of lung cancer in a Korean population. (PubMed id 19055823)1, 4, 9 Jo U.H....Kim Y.H. (BMC Cancer 2008)
    3. Epidermal growth factor receptor and human epidermal growth factor receptor 2 gene polymorphisms in endometrial cancer in a Japanese population. (PubMed id 17644807)1, 4, 9 Kitao K....Maruo T. (Reprod Sci 2007)
    4. EGFR, ERBB2, and KRAS mutations in Korean non-small cell lung cancer patients. (PubMed id 17321325)1, 4, 9 Bae N.C....Park J.Y. (Cancer Genet. Cytogenet. 2007)
    5. The influence of HER2 genotypes as molecular markers on breast cancer outcome. (PubMed id 18721072)1, 4, 9 Mutluhan H....Seyrek E. (DNA Cell Biol. 2008)
    6. Polymorphisms of HER2 Ile655Val and cyclin D1 (CCND1) G870A are not associated with breast cancer risk but polymorphic allele of HER2 is associated with nodal metastases. (PubMed id 18237245)1, 4, 9 Naidu R....Taib N.A. (Neoplasma 2008)
    7. The influence of serum HER-2 levels and HER-2 codon 655 polymorphism on breast cancer outcome. (PubMed id 18237248)1, 4, 9 Papadopoulou E....Kortsaris A. (Neoplasma 2008)
    8. Impact of HER2 and EGFR gene status on gefitinib-treated patients with nonsmall-cell lung cancer. (PubMed id 17487844)1, 4, 9 Soh J....Date H. (Int. J. Cancer 2007)
    9. Topoisomerase II alpha and responsiveness of breast cancer to adjuvant chemotherapy. (PubMed id 19401546)1, 4, 9 O'Malley F.P....Pritchard K.I. (J. Natl. Cancer Inst. 2009)
    10. Role of the HER2 [Ile655Val] genetic polymorphism in tumorogenesis and in the risk of trastuzumab-related cardiotoxicity. (PubMed id 17693647)1, 4, 9 Beauclair S....Milano G. (Ann. Oncol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2064 HGNC: 3430 AceView: ERBB2 Ensembl:ENSG00000141736 euGenes: HUgn2064
    ECgene: ERBB2 Kegg: 2064 H-InvDB: ERBB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ERBB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERBB2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/erbb2/
    Wikipedia http://en.wikipedia.org/wiki/ERBB2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERBB2 gene:
    Search GeneIP for patents involving ERBB2

    Licensable Technologies for ERBB2 gene:
    Weizmann Institute:Combination of Anti-ErbB-2 monoclonal Ab for treating cancer    (see all 2)
    GeneCards and IP:
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