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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ERBB2 Gene

protein-coding   GIFtS: 80
GCID: GC17P037844

v-erb-b2 erythroblastic leukemia viral oncogene homolog...

(Previous name: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog...)
(Previous symbol: NGL)
 Explore 238 diseases affiliated with
ERBB2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ERBB2    

Aliases
for ERBB2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
V-Erb-B2 Erythroblastic Leukemia Viral Oncogene Homolog 2,
Neuro/Glioblastoma Derived Oncogene Homolog (Avian)1 2
     P185erbB21
HER21 2 3 5     EC 2.7.10.13 8
NEU1 2 3 5     HER-2/Neu1
NGL1 2 3 5     TKR12
CD3401 2     C-Erb B2/Neu Protein2
HER-21 2     Herstatin1
V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 2
(Neuro/Glioblastoma Derived Oncogene Homolog)1 2
     Neuroblastoma/Glioblastoma Derived Oncogene Homolog2
Metastatic Lymph Node Gene 19 Protein2 3     Receptor Tyrosine-Protein Kinase ErbB-22
Proto-Oncogene C-ErbB-22 3     MLN193
Proto-Oncogene Neu2 3     CD340 Antigen3
Tyrosine Kinase-Type Cell Surface Receptor HER22 3     EC 2.7.108
MLN 192 3     

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


Summaries
for ERBB2 gene

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

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:
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)


Genomic Views
for ERBB2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ERBB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ERBB2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: 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
Subcellular location: Isoform 2: Cytoplasm. Nucleus
Subcellular location: Isoform 3: Cytoplasm. Nucleus
6/17 PDB 3D structures from and Proteopedia for ERBB2 (see all 17):
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04626

    • 4/35 DME Specific Peptides for ERBB2 (P04626) (see all 35)
     KPYDGIP  RDLAARN  AENPEYL  MARDPQR 

    ERBB2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005862.1  NP_004439.2  

    ENSEMBL proteins: 
     ENSP00000462438   ENSP00000462808   ENSP00000404047   ENSP00000463714   ENSP00000462024  
     ENSP00000269571   ENSP00000463427   ENSP00000463719   ENSP00000462270   ENSP00000464420  
     ENSP00000464252   ENSP00000463002   ENSP00000446466   ENSP00000385185   ENSP00000443562  
     ENSP00000446382  
    Reactome Protein details: P04626
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant ERBB2 Protein
    R&D Systems Recombinant & Natural Proteins for ERBB2 (ErbB2/Her2)
    Enzo Life Sciences proteins for ERBB2
    OriGene Purified Proteins (see all 5): ERBB2
    OriGene Protein Over-expression Lysate: ERBB2
    OriGene Custom Protein Services for ERBB2 
    GenScript Custom Purified and Recombinant Proteins Services for ERBB2
    Novus Biologicals ERBB2 Proteins
    Novus Biologicals ERBB2 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ERBB2
    Uscn Proteins for ERBB2

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16314522
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005902microvillus ----
    GO:0009925basal plasma membrane ----


    ERBB2 for ontologies           About GeneDecksing



    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 (see all 34): ERBB2
    OriGene Custom Antibody Services for ERBB2 
    GenScript Superior Antibodies for ERBB2
    Novus Biologicals ERBB2 Antibodies
    Abcam antibodies for ERBB2 
    Uscn Antibodies for ERBB2
    ThermoFisher Antibody for ERBB2

    Assay Products for ERBB2: 
    EMD Millipore Kits and Assays for the Analysis of ERBB2
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    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
    Uscn ELISAs and CLIAs for ERBB2

    Protein Domains /
    Families
    for ERBB2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERBB2 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR017441 Protein_kinase_ATP_BS
     IPR006212 Furin_repeat
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_cat_dom
     IPR000494 EGF_rcpt_L

    Graphical View of Domain Structure for InterPro Entry P04626

    ProtoNet protein and cluster: P04626

    5 Blocks protein families:
    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


    Function
    for ERBB2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		miRTarBase miRNAs that target ERBB2:
    hsa-mir-125b (MIRT002939), hsa-mir-331-3p (MIRT005805), hsa-mir-125a-5p (MIRT005118), hsa-mir-559 (MIRT000036), hsa-mir-21 (MIRT004318), hsa-mir-548d-3p (MIRT000037)

    OriGene 3'-UTR Clone (see all 2): ERBB2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERBB2
    8/11 QIAGEN miScript miRNA 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 plasmid: ERBB2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERBB2 (see all 7)
    OriGene shRNA RFP: ERBB2
    OriGene siRNA: ERBB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERBB2

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERBB2 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERBB2 (see all 4)
    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
    Search LifeMap BioReagents cell lines for ERBB2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB2

    Gene Ontology (GO): 5/19 molecular function terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001042RNA polymerase I core binding IDA--
    GO:0001948glycoprotein binding ----
    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


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

    Animal Models:
         Mouse knock-outs for ERBB2: Erbb2tm1Vrtn Erbb2tm1Gne Erbb2tm2Mul Erbb2tm1Haus Erbb2tm2.1Cbm
         15/19 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  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    ERBB2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ERBB2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/54 super-pathways (see all 54) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by FGFR
    8/12 pathways (see all 12)
    		Signaling by FGFR1.00
    		DAP12 signaling0.83
    		Downstream signaling of activated FGFR0.92
    		Signaling by EGFR in Cancer0.83
    		Signaling by FGFR in disease0.91
    		DAP12 interactions0.76
    		Signaling by ERBB20.89
    		Signaling by PDGF0.72
    2PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    		PIP3 activates AKT signaling1.00
    		PI3K/AKT activation0.97
    		PI3K/AKT Signaling in Cancer1.00
    		GAB1 signalosome0.96
    		PI3K events in ERBB2 signaling1.00
    		Constitutive PI3K/AKT Signaling in Cancer0.88
    		PI3K events in ERBB4 signaling1.00
    		Signaling by SCF-KIT0.72
    3GPCR Pathway
    		GPCR Pathway1.00
    		Estrogen Pathway0.55
    		Ras Pathway0.62
    		Pancreatic Adenocarcinoma0.55
    		Breast Cancer Regulation by Stathmin10.58
    		Paxillin Interactions0.53
    		NFAT in Immune Response0.58
    		P2Y Receptor Signaling0.38
    4Development HGF signaling pathway
    		Development_EGFR signaling via small GTPases0.44
    		Development_EGFR signaling via PIP30.26
    		Development EGFR signaling via small GTPases0.44
    		Apoptosis and survival_Role of CDK5 in neuronal death and survival0.24
    		Development EGFR signaling via PIP30.26
    		Apoptosis and survival Role of CDK5 in neuronal death and survival0.24
    5Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/8 EMD Millipore Pathways for ERBB2 (see all 8)
        Apoptosis and survival Role of CDK5 in neuronal death and survival
    Development EGFR signaling pathway
    Development TGF-beta receptor signaling
    Translation Non-genomic (rapid) action of Androgen Receptor
    Development Ligand-independent activation of ESR1 and ESR2

    5/38 Downloadable PowerPoint Slides of QIAGEN 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

    5/8 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

    5/15 BioSystems Pathways for ERBB2 (see all 15) 
        ErbB signaling pathway
    Signaling Pathways in Glioblastoma
    DNA damage response (only ATM dependent)
    Focal Adhesion
    Integrated Pancreatic Cancer Pathway

    5/39        Reactome Pathways for ERBB2 (see all 39)
        Signaling by EGFR in Cancer
    Downregulation of ERBB2:ERBB3 signaling
    Downstream signal transduction
    Signal Transduction
    Signaling by PDGF

    1 PharmGKB Pathway for ERBB2
        EGFR Inhibitor Pathway, Pharmacodynamics

    5/10         Kegg Pathways  (Kegg details for ERBB2) (see all 10):
        ErbB signaling pathway
    Calcium signaling pathway
    Focal adhesion
    Adherens junction
    Pathways in cancer


    ERBB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERBB2

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

    5/226 Interacting proteins for ERBB2 (P046261, 2, 3 ENSP000002695714) via UniProtKB, MINT, STRING, and/or I2D (see all 226)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHC1P293532, 3, ENSP000004013034MINT-61510 MINT-61506 MINT-74737 MINT-61504 MINT-74734 MINT-74736 MINT-61508 MINT-74733 MINT-74735 MINT-61511 I2D: score=8 STRING: ENSP00000401303
    PIK3R3Q925692, 3, ENSP000002627414MINT-74664 MINT-74642 MINT-74650 MINT-74662 MINT-74660 MINT-74649 MINT-74663 MINT-74641 MINT-74661 I2D: score=2 STRING: ENSP00000262741
    PIK3R2O004592, 3, ENSP000002222544MINT-74622 MINT-74623 MINT-74620 MINT-74631 MINT-74621 MINT-61505 MINT-74632 I2D: score=5 STRING: ENSP00000222254
    SYKP434052, 3, ENSP000003648984MINT-74765 MINT-74767 MINT-74769 MINT-74758 MINT-74768 MINT-74764 MINT-74766 I2D: score=2 STRING: ENSP00000364898
    ABL2P426842, 3, ENSP000003565954MINT-74443 MINT-74440 MINT-74444 MINT-74442 MINT-74439 MINT-74441 I2D: score=2 STRING: ENSP00000356595
    About this table

    Gene Ontology (GO): 5/49 biological process terms (GO ID links to tree view) (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development ----
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006468protein phosphorylation TAS10851066
    GO:0007165signal transduction IDA10572067


    ERBB2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ERBB2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ERBB2 for compounds           About GeneDecksing

    EMD Millipore small molecules for ERBB2:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for ERBB2

    Compounds for ERBB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GW 583340 dihydrochloridePotent dual EGFR/ErbB2 inhibitor; orally active[388082-81-3]
    HDS 029Potent inhibitor of the ErbB receptor family--
    JNJ 28871063 hydrochloridePotent ErbB receptor family inhibitor[944341-54-2]
    TAK 165Potent and selective ErbB2 inhibitor[366017-09-6]
    PD 158780Potent ErbB receptor family inhibitor[171179-06-9]

    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--

    2 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

    10/125 Novoseek 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)

    4 PharmGKB related drug/compound annotations for ERBB2 gene
    Drug/compound PharmGKB Annotation
    PertuzumabDL  
    everolimusDL  
    lapatinibDL  
    trastuzumabCA  DL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ERBB2 

    Transcripts
    for ERBB2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ERBB2 gene (2 alternative transcripts): 
    NM_001005862.1  NM_004448.2  

    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
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000584601 ENST00000584014 ENST00000578199(uc002hsl.3) ENST00000445658
    ENST00000584450 ENST00000582648 ENST00000582788 ENST00000269571 ENST00000578373
    ENST00000584908(uc002hsn.1) ENST00000578709 ENST00000584099 ENST00000583038
    ENST00000583391 ENST00000578502 ENST00000582818 ENST00000578630 ENST00000584684


    miRNA
    Products:             		 OriGene 3'-UTR Clone (see first 1): ERBB2 (NM_001005862  NM_004448  )
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERBB2
    8/11 QIAGEN miScript miRNA 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 plasmid: ERBB2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERBB2 (see all 7)
    OriGene shRNA RFP: ERBB2
    OriGene siRNA: ERBB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERBB2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERBB2 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERBB2 (see all 4)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for ERBB2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ERBB2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERBB2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERBB2

    Additional cDNA 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 

    24/26 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 

    24/323 AceView cDNA sequences (see all 323):

    BI755753 AA025141 CK299205 BM795191 AB025286 CR591377 AW175631 CA455141 
    BU541491 BM830170 BM789286 AA760891 BU845369 BM692355 AU140362 BM673607 
    BX501707 CB305806 CA487631 CA488343 CD515356 AA025156 BU931894 AW175620 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ERBB2 (see all 6)    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for ERBB2

    Expression
    for ERBB2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ERBB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGAAGGAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ERBB2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular Endocardial CushionEndocardial Cushion CellsEndocardium
    HeartEndocardiumEndocardial CellsEndocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartRight VentricleCardiomyocytesMyocardium
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    BoneZeugopod Long BoneBone
    BrainCerebral CortexBrain
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    BrainThalamusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ERBB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERBB2

    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

        SABiosciences Expression via Pathway-Focused 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 genome-wide validated SYBR primer pairs in human, mouse, rat for ERBB2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ERBB2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERBB2
    QIAGEN 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
    for ERBB2 gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for ERBB2 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ERBB21 v-erb-b2 erythroblastic leukemia viral oncogene homolog more 73.11(n)
    71.83(a)    		   426130  NM_001044661.1  NP_001038126.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ERBB26
    		 --
    		 64(a)
    		 1 ↔ 1
    		 6(68362453-68402526)
    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 60.69(n)
    59.08(a)    		   386966  NM_200119.2  NP_956413.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Egfr3 eggshell pattern formation epidermal growth
    factor more    		 39(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea let-233 tyrosine-protein kinase (Epidermal growth
    factor more    		 34(a)   II(9197428-9206848)   --


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

    Paralogs
    for ERBB2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ERBB2 gene
    SYK2  TNK12  JAK22  JAK32  TNK22  TYK22  ERBB42  JAK12  
    ERBB32  PTK22  ZAP702  PTK2B2  EGFR2  
    18/88 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    CRCP
    EPHA4    APOD    FAM175A    HKR1    LOC100506792    NF2
    UTY    CHID1    HMGA2    SHANK2    TMEM14B    FKBP3

    ERBB2 for paralogs           About GeneDecksing



    Genomic Variants
    for ERBB2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626
    Polymorphism: 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


    10/792 NCBI SNPs in ERBB2 are shown (see all 792)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs11362011,2
    		C,F,H,non-pathogenic37432406(+) CCATCA/G/TTCTCT 6 I V F mis146EA NS NA MN CSA EU 11776
    rs18012011,2
    		C,F,non-pathogenic37432409(+) CGTCCA/GTCATC 4 I V mis19Minor allele frequency- G:0.01MN NA EU 6283
    rs289333681,2
    		Cother37429998(+) TGTGGG/AAGCTG 4 /K /E mis12Minor allele frequency- A:0.00NA 4
    rs289333701,2
    		C,Fother37430594(+) TCCCAA/GCCATG 4 N S mis1 ese32Minor allele frequency- G:0.22NS NA 278
    rs289333691,2
    		Cother37430975(+) TGGCTG/AGTGTG 4 /S /G mis1 ese32Minor allele frequency- A:0.00NA 4
    rs753625181,2
    		C,--33637384(+) GGCTGG/TGTGAC 1 -- us2k10--------
    rs758499831,2
    		C,--33637687(+) CATTCT/GCTGCC 1 -- us2k12Minor allele frequency- G:0.07NA WA 120
    rs563500741,2
    		C--33638264(+) CGGAAG/ATTCCT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs800858191,2
    		C,--33638320(+) AAAGTC/TCCCGG 1 -- ut510--------
    rs755828141,2
    		C,F,--33639026(+) GAACAG/ACATAC 1 -- int11Minor allele frequency- A:0.08WA 118

    HapMap Linkage Disequilibrium report for ERBB2 (37844167 - 37886679 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ERBB2
         1 CNV: 77592
    Human Gene Mutation Database (HGMD): ERBB2

    5/21 SABiosciences Cancer Mutation PCR Assays for ERBB2 (see all 21):
    Cosmic IdAA Change
    684p.E914K
    13170p.D769H
    48358p.S310F
    686p.N857S
    683p.L755P
    5/11 SABiosciences Cancer Mutation PCR Arrays containing ERBB2 (see all 11):
    ErbB2/HER2/neu Pathway
    Ovarian Cancer  
    Cancer Comprehensive Panel 384HT
    Lung Cancer
    Oncogene Panel 384HT
    4 SABiosciences qBiomarker Copy Number PCR Arrays containing ERBB2:
    Oncogenes & Tumor Suppressor Genes 384HC
    Breast Cancer
    WNT Signaling
    Kinases & Phosphatases
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERBB2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERBB2

    Disorders / Diseases
    for ERBB2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ERBB2 for disorders           About GeneDecksing

    OMIM gene information: 164870   
    OMIM disorders: 211980  137800  137215  
    UniProtKB/Swiss-Prot: ERBB2_HUMAN, P04626
  • Defects in ERBB2 are a cause of 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
  • Defects in ERBB2 are involved in the development of glioma (GLM) [MIM:137800]. Gliomas are central nervous
    • system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, and
    ependymomas
  • Defects in ERBB2 are a cause of susceptibility to ovarian cancer (OC) [MIM:167000]. Ovarian cancer common
    • malignancy originating from ovarian tissue. Although many histologic types of ovarian neoplasms 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
  • Defects in ERBB2 may be a cause of lung cancer (LNCR) [MIM:211980]. LNCR is 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
  • Defects in ERBB2 are a cause of 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=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

    20/238 diseases for ERBB2 (see all 238):    About MalaCards
    charcot-marie-tooth disease    charcot-marie-tooth disease type 1    charcot-marie-tooth disease type 1a    glioblastoma
    progesterone-receptor negative breast cancer    progesterone-receptor positive breast cancer    lipid-rich carcinoma    estrogen-receptor negative breast cancer
    estrogen-receptor positive breast cancer    placental site trophoblastic tumor    desmoplastic small round cell tumor    malignant peripheral nerve sheath tumor
    microglandular adenosis    uterine carcinosarcoma    cleft lip/palate    invasive bladder transitional cell carcinoma
    nonseminomatous germ cell tumor    bladder transitional cell carcinoma    squamous cell carcinoma    recurrent respiratory papillomatosis

    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     Urinary bladder cancer
    Neutropenia     Colorectal cancer     Pancreatic cancer     Breast disease
    Diarrhea     Stomach cancer

    10/96 Novoseek 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

    Publications
    for ERBB2 gene

    (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)
    About This Section

    PubMed articles for ERBB2 gene, integrated from 9 sources (see all 4926):
    (articles sorted by number of sources associating them with ERBB2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the extracellular region of HER2 alone and in complex with the Herceptin Fab. (PubMed id 12610629)1, 2, 9 Cho H.-S.... Leahy D.J. (2003)
    2. Estrogen receptor codon 594 and HER2 codon 655 polymorphisms and breast cancer risk. (PubMed id 15126109)1, 4, 9 Akisik E. and Dalay N. (2004)
    3. ErbB2-mediated Src and signal transducer and activator of transcription 3 activation leads to transcriptional up-regulation of p21Cip1 and chemoresistance in breast cancer cells. (PubMed id 19372587)1, 2, 9 Hawthorne V.S....Yu D. (2009)
    4. EGFR and erbB2 mutation status in Japanese lung cancer patients. (PubMed id 16003726)1, 4, 9 Sasaki H....Fujii Y. (2006)
    5. The influence of HER2 genotypes as molecular markers in ovarian cancer outcome. (PubMed id 16112085)1, 4, 9 Pinto D....Medeiros R. (2005)
    6. Her2 genotype and breast cancer progression in Korean women. (PubMed id 15693849)1, 4, 9 An H.J....Lee K.S. (2005)
    7. Vitamin D receptor, HER-2 polymorphisms and risk of prostate cancer in men with benign prostate hyperplasia. (PubMed id 15083213)1, 4, 9 Tayeb M.T....McLeod H.L. (2004)
    8. A single nucleotide polymorphism in the transmembrane domain coding region of HER-2 is associated with development and malignant phenotype of gastric cancer. (PubMed id 14520697)1, 4, 9 Kuraoka K....Yasui W. (2003)
    9. No association between HER-2 gene polymorphism at codon 655 and a risk of bladder cancer. (PubMed id 11857355)1, 4, 9 Wang L....Kato T. (2002)
    10. Association of HER-2 polymorphism with Japanese sporadic prostate cancer susceptibility. (PubMed id 15389808)1, 4, 9 Yokomizo A....Naito S. (2005)

    External Searches for ERBB2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
    		PubMed
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    Genome Databases showing ERBB2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2064 HGNC: 3430 AceView: ERBB2 Ensembl:ENSG00000141736 euGenes: HUgn2064
    ECgene: ERBB2 Kegg: 2064 H-InvDB: ERBB2

    Other Databases showing ERBB2 gene

    (According to HUGE)
    About This Section
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    Specialized Databases showing ERBB2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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

    Intellectual Property
    for ERBB2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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