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Aliases for ERBB2 Gene

Aliases for ERBB2 Gene

  • Erb-B2 Receptor Tyrosine Kinase 2 2 3 5
  • V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 2 2 3
  • Tyrosine Kinase-Type Cell Surface Receptor HER2 3 4
  • Neuro/Glioblastoma Derived Oncogene Homolog 2 3
  • Human Epidermal Growth Factor Receptor 2 2 3
  • Metastatic Lymph Node Gene 19 Protein 3 4
  • Proto-Oncogene C-ErbB-2 3 4
  • Proto-Oncogene Neu 3 4
  • EC 2.7.10.1 4 61
  • P185erbB2 3 4
  • MLN 19 3 4
  • HER2 3 4
  • NGL 3 4
  • NEU 3 4
  • V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 2 (Neuro/Glioblastoma Derived Oncogene Homolog) 2
  • V-Erb-B2 Erythroblastic Leukemia Viral Oncogene Homolog 2, Neuro/Glioblastoma Derived Oncogene Homolog 3
  • V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncoprotein 2 3
  • Neuroblastoma/Glioblastoma Derived Oncogene Homolog 3
  • Receptor Tyrosine-Protein Kinase ErbB-2 3
  • C-Erb B2/Neu Protein 3
  • CD340 Antigen 4
  • HER-2/Neu 3
  • Herstatin 3
  • EC 2.7.10 61
  • CD340 3
  • HER-2 3
  • MLN19 4
  • TKR1 3

External Ids for ERBB2 Gene

Previous HGNC Symbols for ERBB2 Gene

  • NGL

Previous GeneCards Identifiers for ERBB2 Gene

  • GC17P037262
  • GC17P039854
  • GC17P037766
  • GC17P038231
  • GC17P035109
  • GC17P037844
  • GC17P033638

Summaries for ERBB2 Gene

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 (Erb-B2 Receptor Tyrosine Kinase 2) is a Protein Coding gene. Diseases associated with ERBB2 include Glioma Susceptibility 1 and Ovarian Cancer, Somatic. Among its related pathways are PI-3K cascade-FGFR3 and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is EGFR.

UniProtKB/Swiss-Prot for ERBB2 Gene

  • 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.

  • 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.

Tocris 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 drives many cellular responses.

Gene Wiki entry for ERBB2 Gene

PharmGKB "VIP" Summary for ERBB2 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for ERBB2 Gene

Genomics for ERBB2 Gene

Regulatory Elements for ERBB2 Gene

Enhancers for ERBB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ERBB2 on UCSC Golden Path with GeneCards custom track

Promoters for ERBB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ERBB2 Gene

Chromosome:
17
Start:
39,687,914 bp from pter
End:
39,730,426 bp from pter
Size:
42,513 bases
Orientation:
Plus strand

Genomic View for ERBB2 Gene

Genes around ERBB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERBB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERBB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERBB2 Gene

Proteins for ERBB2 Gene

  • Protein details for ERBB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04626-ERBB2_HUMAN
    Recommended name:
    Receptor tyrosine-protein kinase erbB-2
    Protein Accession:
    P04626
    Secondary Accessions:
    • B2RZG3
    • B4DHN3
    • Q14256
    • Q6LDV1
    • Q9UMK4
    • X5D2V5

    Protein attributes for ERBB2 Gene

    Size:
    1255 amino acids
    Molecular mass:
    137910 Da
    Quaternary structure:
    • 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 ERBIN. Interacts with KPNB1, RANBP2, EEA1, CRM1, CLTC, PTK6, RPA94 and ACTB. Interacts with SRC and MYOC (By similarity). Interacts (preferentially with the tyrosine phosphorylated form) with CPNE3; this interaction occurs at the cell membrane and is increased in a growth factor heregulin-dependent manner (PubMed:20010870).

    Three dimensional structures from OCA and Proteopedia for ERBB2 Gene

    Alternative splice isoforms for ERBB2 Gene

neXtProt entry for ERBB2 Gene

Post-translational modifications for ERBB2 Gene

  • Autophosphorylated. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit (Probable). Ligand-binding increases phosphorylation on tyrosine residues (PubMed:27134172). Signaling via SEMA4C promotes phosphorylation at Tyr-1248 (PubMed:17554007). Dephosphorylated by PTPN12 (PubMed:27134172).
  • Ubiquitination at Lys 736, Lys 747, and Lys 753
  • Glycosylation at Asn 68, Asn 124, Asn 187, Asn 259, Asn 530, Asn 571, and Asn 629
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERBB2 (HER2)

Protein Products

Domains & Families for ERBB2 Gene

Graphical View of Domain Structure for InterPro Entry

P04626

UniProtKB/Swiss-Prot:

ERBB2_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
genes like me logo Genes that share domains with ERBB2: view

Function for ERBB2 Gene

Molecular function for ERBB2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by dimerization. Not activated by EGF, TGF-alpha and amphiregulin. Interaction with PTK6 increases its intrinsic kinase activity.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ERBB2 Gene

Gene Ontology (GO) - Molecular Function for ERBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001042 RNA polymerase I core binding IDA 21555369
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 --
GO:0004888 transmembrane signaling receptor activity IDA 7514177
genes like me logo Genes that share ontologies with ERBB2: view
genes like me logo Genes that share phenotypes with ERBB2: view

Human Phenotype Ontology for ERBB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERBB2 Gene

MGI Knock Outs for ERBB2:

Animal Model Products

CRISPR Products

miRNA for ERBB2 Gene

miRTarBase miRNAs that target ERBB2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERBB2

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ERBB2 Gene

Localization for ERBB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERBB2 Gene

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.
Isoform 2: Cytoplasm. Nucleus.
Isoform 3: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERBB2 Gene COMPARTMENTS Subcellular localization image for ERBB2 gene
Compartment Confidence
endosome 5
nucleus 5
plasma membrane 5
cytosol 3
extracellular 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 2
vacuole 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ERBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16314522
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane IDA 16314522
GO:0016021 integral component of membrane NAS 15609325
genes like me logo Genes that share ontologies with ERBB2: view

Pathways & Interactions for ERBB2 Gene

SuperPathways for ERBB2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI-3K cascade-FGFR3
3 Signaling by ERBB2
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with ERBB2: view

SIGNOR curated interactions for ERBB2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ERBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006468 protein phosphorylation TAS 10851066
GO:0007165 signal transduction IDA 10572067
genes like me logo Genes that share ontologies with ERBB2: view

Drugs & Compounds for ERBB2 Gene

(154) Drugs for ERBB2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lapatinib Approved March 2007, Investigational Pharma Inhibition, inhibitor, Biomarker, Target, antagonist EGFR/HER2 inhibitor,potent,selective and reversible, HER2 and EGFR kinase inhibitor, HER2 Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 296
Pertuzumab Approved Pharma Biomarker, antibody, inhibitor, Target HER2 Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors, HER2 Dimerization Inhibitor 114
trastuzumab Approved, Investigational Pharma antagonist, Biomarker, antibody, inhibitor, Target HER2 antagonist, HER2 Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 751
trastuzumab emtansine Approved Pharma Target, antibody 0
afatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0

(51) Additional Compounds for ERBB2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
AG 490
133550-30-8
AV 412
451492-95-8
CP 724714
383432-38-0
PF 6274484
1035638-91-5

(5) Tocris Compounds for ERBB2 Gene

Compound Action Cas Number
AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor 133550-30-8
AV 412 Potent inhibitor of EGFR, ErbB2 and Abl receptor tyrosine kinases 451492-95-8
CP 724714 Potent and selective ErbB2 inhibitor 383432-38-0
Iressa Orally active, selective EGFR inhibitor 184475-35-2
PF 6274484 High affinity and potent covalent EGFR kinase inhibitor 1035638-91-5

(26) ApexBio Compounds for ERBB2 Gene

Compound Action Cas Number
AC480 (BMS-599626) HER1/2 inhibitor,selective and efficacious 714971-09-2
AEE788 (NVP-AEE788) EGFR/HER-2/VEGFR inhibitor 497839-62-0
Afatinib (BIBW2992) Irreversible EGFR/HER2 inhibitor 439081-18-2
Afatinib dimaleate 850140-73-7
AG 825 Selective ErbB2 inhibitor 149092-50-2
AG-1478 EGFR inhibitor,potent and selective 153436-53-4
ARRY-380 Tyrosine kinase HER2 and p95-HER2 inhibitor 937265-83-3
AST-1306 EGFR/HER2 inhibitor 897383-62-9
AST-1306 TsOH ErbB2 and EGFR inhibitor 1050500-29-2
AV-412 EGFR/ErbB2 kinase inhibitor 451493-31-5
AV-412 free base EGFR/ErbB2 kinase inhibitor 451492-95-8
AZD8931 (Sapitinib) ErbB inhibitor 848942-61-0
BMS 599626 dihydrochloride EGFR and ErbB2 inhibitor,potent and selective
BMS-599626 Hydrochloride EGFR/HER2 inhibitor,potent and selective 873837-23-1
Canertinib (CI-1033) HER family tyrosine kinase inhibitor 267243-28-7
Canertinib dihydrochloride Pan-ErbB inhibitor, potent and selective 289499-45-2
CP-724714 HER2 inhibitor,potent and selective 537705-08-1
Dacomitinib (PF299804, PF299) HER inhibitor 1110813-31-4
erbB-2 Tyrosine kinase (TK) receptor
Lapatinib EGFR/HER2 inhibitor,potent,selective and reversible 231277-92-2
Mubritinib (TAK 165) 366017-09-6
Neratinib (HKI-272) HER2/EGFR inhibitor,potent and irreversible 698387-09-6
Poziotinib irreversible pan-HER inhibitor 1092364-38-9
TAK-285 HER2/EGFR(HER1) inhibitor 871026-44-7
Tyrphostin AG 879 148741-30-4
Varlitinib (ARRY334543) ErbB inhibitor 845272-21-1
genes like me logo Genes that share compounds with ERBB2: view

Drug Products

Transcripts for ERBB2 Gene

Unigene Clusters for ERBB2 Gene

V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERBB2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERBB2 Gene

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: -

Relevant External Links for ERBB2 Gene

GeneLoc Exon Structure for
ERBB2
ECgene alternative splicing isoforms for
ERBB2

Expression for ERBB2 Gene

mRNA expression in normal human tissues for ERBB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERBB2 Gene

This gene is overexpressed in Lung (28.2), Skin (14.6), and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERBB2 Gene



Protein tissue co-expression partners for ERBB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERBB2 Gene:

ERBB2

SOURCE GeneReport for Unigene cluster for ERBB2 Gene:

Hs.446352

mRNA Expression by UniProt/SwissProt for ERBB2 Gene:

P04626-ERBB2_HUMAN
Tissue specificity: Expressed in a variety of tumor tissues including primary breast tumors and tumors from small bowel, esophagus, kidney and mouth.
genes like me logo Genes that share expression patterns with ERBB2: view

Primer Products

No data available for mRNA differential expression in normal tissues for ERBB2 Gene

Orthologs for ERBB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERBB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERBB2 34
  • 90.31 (n)
  • 92.19 (a)
ERBB2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERBB2 34
  • 90.78 (n)
  • 92.66 (a)
ERBB2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erbb2 34
  • 85.6 (n)
  • 87.73 (a)
Erbb2 16
Erbb2 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERBB2 34
  • 99.55 (n)
  • 99.76 (a)
ERBB2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erbb2 34
  • 85.9 (n)
  • 88.13 (a)
oppossum
(Monodelphis domestica)
Mammalia ERBB2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERBB2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERBB2 34
  • 72.97 (n)
  • 71.76 (a)
ERBB2 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERBB2 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erbb2 34
  • 63.17 (n)
  • 62.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14390 34
zebrafish
(Danio rerio)
Actinopterygii erbb2 34
  • 60.77 (n)
  • 59.31 (a)
erbb2 35
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Egfr 36
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea let-23 36
  • 34 (a)
Species where no ortholog for ERBB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERBB2 Gene

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

Paralogs for ERBB2 Gene

Paralogs for ERBB2 Gene

genes like me logo Genes that share paralogs with ERBB2: view

Variants for ERBB2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ERBB2 Gene

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.

Sequence variations from dbSNP and Humsavar for ERBB2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs169244 -- 39,701,289(+) TCCTA(A/G)AACAC intron-variant
rs1058808 -- 39,727,784(+) AAAGG(C/G)CCAAG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1801201 - 39,723,332(+) CGTCC(A/C/G)TCATC nc-transcript-variant, reference, missense
rs272159 -- 39,722,873(+) accac(A/G)cccag intron-variant
rs1810132 -- 39,709,752(+) TGTTA(C/T)TAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERBB2 Gene

Variant ID Type Subtype PubMed ID
dgv40n68 CNV loss 17160897
esv274928 CNV gain+loss 21479260
esv275276 CNV loss 21479260
nsv1056234 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv2048 CNV insertion 18451855
nsv476682 CNV novel sequence insertion 20440878
nsv528093 CNV loss 19592680
nsv574993 CNV gain 21841781

Variation tolerance for ERBB2 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.95; 97.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERBB2 Gene

Human Gene Mutation Database (HGMD)
ERBB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERBB2

Disorders for ERBB2 Gene

MalaCards: The human disease database

(141) MalaCards diseases for ERBB2 Gene - From: OMIM, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glioma susceptibility 1
  • glioma somatic
ovarian cancer, somatic
  • adenocarcinoma, ovarian, somatic
lung cancer
  • lung cancer, protection against
gastric cancer, somatic
  • gastric cancer
glioblastoma
  • glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search ERBB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERBB2_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

Relevant External Links for ERBB2

Genetic Association Database (GAD)
ERBB2
Human Genome Epidemiology (HuGE) Navigator
ERBB2
Tumor Gene Database (TGDB):
ERBB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERBB2
genes like me logo Genes that share disorders with ERBB2: view

No data available for Genatlas for ERBB2 Gene

Publications for ERBB2 Gene

  1. 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. (PMID: 19372587) Hawthorne V.S. … Yu D. (Mol. Cancer Res. 2009) 3 4 22 65
  2. Outcome of patients with early-stage breast cancer treated with doxorubicin-based adjuvant chemotherapy as a function of HER2 and TOP2A status. (PMID: 19620488) Tubbs R. … Hayes D.F. (J. Clin. Oncol. 2009) 3 22 46 65
  3. The Val allele of HER-2 codon 655 predicts the progression of oral squamous cell carcinoma. (PMID: 18849186) Wu C.H. … Kao S.Y. (Oral Oncol. 2009) 3 22 46 65
  4. Impact of HER2 and EGFR gene status on gefitinib-treated patients with nonsmall-cell lung cancer. (PMID: 17487844) Soh J. … Date H. (Int. J. Cancer 2007) 3 22 46 65
  5. Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients. (PMID: 17626639) Pugh T.J. … Marra M.A. (BMC Cancer 2007) 3 22 46 65

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