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

Gene ID: 2064, updated on 11-Jun-2017
Official Symbol
ERBB2provided by HGNC
Official Full Name
erb-b2 receptor tyrosine kinase 2provided by HGNC
Primary source
HGNC:HGNC:3430
See related
Ensembl:ENSG00000141736 MIM:164870; Vega:OTTHUMG00000179300
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEU; NGL; HER2; TKR1; CD340; HER-2; MLN 19; HER-2/neu
Summary
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Orthologs
Location:
17q12
Exon count:
32
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (39688084..39728662)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37844167..37884915)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phenylethanolamine N-methyltransferase Neighboring gene post-GPI attachment to proteins 3 Neighboring gene microRNA 4728 Neighboring gene migration and invasion enhancer 1 Neighboring gene growth factor receptor bound protein 7 Neighboring gene IKAROS family zinc finger 3 Neighboring gene keratin 8 pseudogene 34

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Glioma susceptibility 1
MedGen: C2750850 OMIM: 137800 GeneReviews: Not available
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Lung cancer
MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
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Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
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Pertuzumab response
MedGen: CN233145 GeneReviews: Not available
not available
Trastuzumab response
MedGen: CN078025 GeneReviews: Not available
not available
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  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
    RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystem (from WikiPathways)
    Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystemRac1/p38 pathway from Ingenuity Pathway Analysis.
  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
    Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
  • SHC1 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in ERBB2 signaling, organism-specific biosystemAll ERBB2 heterodimers, ERBB2:EGFR, ERBB2:ERBB3 and ERBB2:ERBB4, are able to activate RAF/MAP kinase cascade by recruiting SHC1 (Pinkas-Kramarski et al. 1996, Sepp-Lorenzino et al. 1996) to phosphory...
  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
    SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
  • Sema4D in semaphorin signaling, organism-specific biosystem (from REACTOME)
    Sema4D in semaphorin signaling, organism-specific biosystemSemaphorin 4D (Sema 4D/CD100) is an axon guidance molecule with two disulfide-linked 150-kDa subunits. SEMA4D is structurally defined by a conserved 500-amino acid extracellular domain with 16 cyste...
  • Sema4D induced cell migration and growth-cone collapse, organism-specific biosystem (from REACTOME)
    Sema4D induced cell migration and growth-cone collapse, organism-specific biosystemSema4D-mediated attraction of endothelial cells requires Rho, but not R-Ras, signaling. Sema4D-mediated plexinB1 activation activates Rho and its downstream effector ROCK. ROCK then phosphorylates ML...
  • Semaphorin interactions, organism-specific biosystem (from REACTOME)
    Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, organism-specific biosystem (from REACTOME)
    TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, organism-specific biosystemTFAP2A and TFAP2C directly stimulate transcription of the estrogen receptor ESR1 gene (McPherson and Weigel 1999). TFAP2A expression correlates with ESR1 expression in breast cancer, and TFAP2C is fr...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystem (from REACTOME)
    Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystemThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) and TFAP2E (AP-2 epsilon). The AP...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
  • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional repression, organism-specific biosystem
    Validated targets of C-MYC transcriptional repression
  • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    a6b1 and a6b4 Integrin signaling, organism-specific biosystem
    a6b1 and a6b4 Integrin signaling
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ErbB-3 class receptor binding TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase I core binding IDA
Inferred from Direct Assay
more info
PubMed 
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
contributes_to growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
Traceable Author Statement
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
signal transducer, downstream of receptor, with protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to epidermal growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
enzyme linked receptor protein signaling pathway TAS
Traceable Author Statement
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
motor neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ERBB signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of immature T cell proliferation in thymus IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system development IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein targeting to membrane IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase I promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase III promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of cell motility TAS
Traceable Author Statement
more info
 
regulation of microtubule-based process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
wound healing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
receptor complex TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
receptor tyrosine-protein kinase erbB-2
Names
c-erb B2/neu protein
herstatin
human epidermal growth factor receptor 2
metastatic lymph node gene 19 protein
neuro/glioblastoma derived oncogene homolog
neuroblastoma/glioblastoma derived oncogene homolog
p185erbB2
proto-oncogene Neu
proto-oncogene c-ErbB-2
tyrosine kinase-type cell surface receptor HER2
v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2
v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog
NP_001005862.1
NP_001276865.1
NP_001276866.1
NP_001276867.1
NP_004439.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007503.1 RefSeqGene

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001005862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK295195, BC080193, BC110392, BM678576
    Consensus CDS
    CCDS45667.1
    UniProtKB/Swiss-Prot
    P04626
    Related
    ENSP00000462438.1, OTTHUMP00000261067, ENST00000584601.5, OTTHUMT00000445614
    Conserved Domains (8) summary
    cd12094
    Location:611654
    TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
    smart00261
    Location:527573
    FU; Furin-like repeats
    cd00064
    Location:205250
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    cd05109
    Location:682960
    PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    pfam00757
    Location:159308
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:22143
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:690946
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14843
    Location:481613
    GF_recep_IV; Growth factor receptor domain IV
  2. NM_001289936.1NP_001276865.1  receptor tyrosine-protein kinase erbB-2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (c) has a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK295195, BC080193, BM678576
    Consensus CDS
    CCDS74052.1
    UniProtKB/Swiss-Prot
    P04626
    Related
    ENSP00000446466.1, ENST00000541774.5
    Conserved Domains (8) summary
    cd12094
    Location:626669
    TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
    smart00261
    Location:542588
    FU; Furin-like repeats
    cd00064
    Location:220265
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    cd05109
    Location:697975
    PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    pfam00757
    Location:174323
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:37158
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:705961
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14843
    Location:496628
    GF_recep_IV; Growth factor receptor domain IV
  3. NM_001289937.1NP_001276866.1  receptor tyrosine-protein kinase erbB-2 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which results in a translational frameshift, compared to variant 1. The resulting isoform (d) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AK313683, BC080193, BM678576, DC346286
    Consensus CDS
    CCDS77016.1
    UniProtKB/TrEMBL
    J3QLU9
    Related
    ENSP00000463714.1, OTTHUMP00000261070, ENST00000584450.5, OTTHUMT00000445618
    Conserved Domains (8) summary
    cd12094
    Location:641684
    TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
    smart00261
    Location:557603
    FU; Furin-like repeats
    cd00064
    Location:235280
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    cd05109
    Location:712990
    PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    pfam00757
    Location:189338
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:52173
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:720976
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14843
    Location:511643
    GF_recep_IV; Growth factor receptor domain IV
  4. NM_001289938.1NP_001276867.1  receptor tyrosine-protein kinase erbB-2 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. The resulting isoform (e) has a shorter N-terminus and a truncated C-terminus, compared to isoform a.
    Source sequence(s)
    AK295195, BC110392
    Consensus CDS
    CCDS77017.1
    UniProtKB/Swiss-Prot
    P04626
    UniProtKB/TrEMBL
    F5H1T4
    Related
    ENSP00000462808.1, OTTHUMP00000261068, ENST00000578199.5, OTTHUMT00000445616
    Conserved Domains (5) summary
    smart00261
    Location:527573
    FU; Furin-like repeats
    cd00064
    Location:205250
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:159308
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:22143
    Recep_L_domain; Receptor L domain
    pfam14843
    Location:481603
    GF_recep_IV; Growth factor receptor domain IV
  5. NM_004448.3NP_004439.2  receptor tyrosine-protein kinase erbB-2 isoform a precursor

    See identical proteins and their annotated locations for NP_004439.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    BM678576, DC346286, X03363
    Consensus CDS
    CCDS32642.1
    UniProtKB/Swiss-Prot
    P04626
    UniProtKB/TrEMBL
    X5DNK3
    Related
    ENSP00000269571.4, OTTHUMP00000261072, ENST00000269571.9, OTTHUMT00000445621
    Conserved Domains (8) summary
    cd12094
    Location:641684
    TM_ErbB2; Transmembrane domain of ErbB2, a Protein Tyrosine Kinase
    smart00261
    Location:557603
    FU; Furin-like repeats
    cd00064
    Location:235280
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    cd05109
    Location:712990
    PTKc_HER2; Catalytic domain of the Protein Tyrosine Kinase, HER2
    pfam00757
    Location:189338
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:52173
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:720976
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14843
    Location:511643
    GF_recep_IV; Growth factor receptor domain IV

RNA

  1. NR_110535.1 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

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