ERBB2 Gene
protein-coding GIFtS : 80
GCID: GC17 P037844
v-erb-b2 erythroblastic leukemia viral oncogene homolog... (Previous name: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog... ) (Previous symbol: NGL )
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Aliasesfor ERBB2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )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
Export aliases for ERBB2 gene to outside databases Previous GC identifers: GC17P037262 GC17P039854 GC17P037766 GC17P038231 GC17P035109 GC17P033638
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Summariesfor 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 acoreceptor 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 thePTGS2/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 membersof 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 initiatesreceptor homo-/hetero-dimerization and autophosphorylation by the intracellular kinase domain, resulting inreceptor activation. Following activation, phosphorylation of cytoplasmic substrates occurs and a signalingcascade is initiated that drives many cellular responses, including changes in gene expression, cytoskeletalrearrangement, anti-apoptosis and increased cell proliferation. Gene Wiki entry for ERBB2 (HER2/neu)
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Genomic Viewsfor 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 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) 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
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Proteinsfor ERBB2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 Q9UMK4Alternative 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 PhosphoSitePlus 2 View neXtProt modification sites for NX_P04626 4/35 DME Specific Peptides for ERBB2 (P04626 ) (see all 35 )ERBB2 Protein expression data from MOPED and PaxDb : About this image
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: Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15 ): About this table
ERBB2 for ontologies About GeneDecksing ERBB2 Antibody Products: Assay Products for ERBB2:
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Protein
Domains / Familiesfor 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 ):
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 subfamilySimilarity : Contains 1 protein kinase domain
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Functionfor ERBB2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 acoreceptor 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 thePTGS2/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 phosphateEnzyme regulation : Activated by dimerization. Not activated by EGF, TGF-alpha and amphiregulin. Interaction with PTK6increases 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 2.7.10.1 1 2 EC 2.7.10 2 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
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 ID Qualified GO term Evidence PubMed IDs GO:0001042 RNA polymerase I core binding
IDA -- GO:0001948 glycoprotein binding
-- -- GO:0004713 protein tyrosine kinase activity
TAS -- GO:0004714 transmembrane receptor protein tyrosine kinase activity
IDA 7514177 GO:0004716 receptor signaling protein tyrosine kinase activity
IEA --
ERBB2 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for ERBB2 :Animal Models: Mouse knock-outs for ERBB2: Erbb2 tm1Vrtn Erbb2 tm1Gne Erbb2 tm2Mul Erbb2 tm1Haus Erbb2 tm2.1Cbm 19 MGI mutant phenotypes (inferred from 17 alleles ) (MGI details for Erbb2) (see first 15 ):
ERBB2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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-pathway contained gene-specific pathways 1 Signaling by FGFR 2 PIP3 activates AKT signaling 3 GPCR Pathway 4 Development HGF signaling pathway 5 Rho Family GTPases
Pathway sources See GeneCards unified pathways Show all pathways 5/8 EMD Millipore Pathways for ERBB2 (see all 8 )5/38 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ERBB2 (see all 38 )1
Cell Signaling Technology (CST) Pathway for ERBB2 4 Tocris Bioscience Pathways for ERBB2 5/8 GeneGo (Thomson Reuters) Pathways for ERBB2 (see all 8 )5/15 BioSystems Pathways for ERBB2 (see all 15 ) 5/39
Reactome Pathways for ERBB2 (see all 39 )1 PharmGKB Pathway for ERBB2 5/10
Kegg Pathways (Kegg details for ERBB2) (see all 10 ):
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 (P04626 1 , 2 , 3 ENSP00000269571 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 226 )Interactant Interaction Details GeneCard External ID(s) SHC1 P29353 2 , 3 , ENSP00000401303 4 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 PIK3R3 Q92569 2 , 3 , ENSP00000262741 4 MINT-74664 MINT-74642 MINT-74650 MINT-74662 MINT-74660 MINT-74649 MINT-74663 MINT-74641 MINT-74661 I2D:
score=2 STRING: ENSP00000262741 PIK3R2 O00459 2 , 3 , ENSP00000222254 4 MINT-74622 MINT-74623 MINT-74620 MINT-74631 MINT-74621 MINT-61505 MINT-74632 I2D:
score=5 STRING: ENSP00000222254 SYK P43405 2 , 3 , ENSP00000364898 4 MINT-74765 MINT-74767 MINT-74769 MINT-74758 MINT-74768 MINT-74764 MINT-74766 I2D:
score=2 STRING: ENSP00000364898 ABL2 P42684 2 , 3 , ENSP00000356595 4 MINT-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
ERBB2 for ontologies About GeneDecksing
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Drugs & Compoundsfor 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
Enzo Life Sciences drugs & compounds for ERBB2
Compounds for ERBB2 available from Tocris Bioscience About this table 2 HMDB Compounds for ERBB2 About this table 2 DrugBank Compounds for ERBB2 About this table 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 About this table Search CenterWatch for drugs/clinical trials and news about ERBB2
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Transcriptsfor 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 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
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
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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 image BioGPS CGAP TAG: AGGAAGGAAC
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 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 smallbowel, esophagus, kidney and mouth SABiosciences Expression via Pathway-Focused PCR Arrays including ERBB2 (see all 13 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ERBB2Browse 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
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Orthologsfor ERBB2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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)
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Paralogsfor ERBB2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ERBB2 gene SYK 2 TNK1 2 JAK2 2 JAK3 2 TNK2 2 TYK2 2 ERBB4 2 JAK1 2 ERBB3 2 PTK2 2 ZAP70 2 PTK2B 2 EGFR 2 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
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Genomic Variantsfor ERBB2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 afrequency 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 17 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
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 ):
5/11 SABiosciences Cancer Mutation PCR Arrays containing ERBB2 (see all 11 ):
4 SABiosciences qBiomarker Copy Number PCR Arrays containing ERBB2 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ERBB2
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Disorders
/ Diseasesfor 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
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Publicationsfor ERBB2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
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
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) 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) 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) EGFR and erbB2 mutation status in Japanese lung cancer patients. (PubMed id 16003726) 1 , 4, 9 Sasaki H....Fujii Y. (2006) The influence of HER2 genotypes as molecular markers in ovarian cancer outcome. (PubMed id 16112085) 1 , 4, 9 Pinto D....Medeiros R. (2005) Her2 genotype and breast cancer progression in Korean women. (PubMed id 15693849) 1 , 4, 9 An H.J....Lee K.S. (2005) 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) 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) 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) Association of HER-2 polymorphism with Japanese sporadic prostate cancer susceptibility. (PubMed id 15389808) 1 , 4, 9 Yokomizo A....Naito S. (2005)
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External Searches for ERBB2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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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
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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
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About This Section Patent Information for ERBB2 gene: Search GeneIP for patents involving ERBB2 Licensable Technologies for ERBB2 gene: GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ERBB2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for ERBB2 OriGene shRNA RFP for ERBB2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ERBB2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ERBB2 OriGene Protein Over-expression Lysate for ERBB2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ERBB2 OriGene 3'-UTR Clone for ERBB2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ERBB2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ERBB2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for ERBB2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ERBB2 OriGene Custom Protein Services for ERBB2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ERBB2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ERBB2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ERBB2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ERBB2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ERBB2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ERBB2
Antibodies & Assays for ERBB2   (HER2)
Tocris compounds for ERBB2
Recombinant Protein for ERBB2
ERBB2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB2
ThermoFisher Antibody for ERBB2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ERBB2
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