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    ERBB3 erb-b2 receptor tyrosine kinase 3 [ Homo sapiens (human) ]

    Gene ID: 2065, updated on 11-Jul-2021

    Summary

    Official Symbol
    ERBB3provided by HGNC
    Official Full Name
    erb-b2 receptor tyrosine kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:3431
    See related
    Ensembl:ENSG00000065361 MIM:190151
    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
    HER3; FERLK; LCCS2; ErbB-3; c-erbB3; erbB3-S; MDA-BF-1; c-erbB-3; p180-ErbB3; p45-sErbB3; p85-sErbB3
    Summary
    This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in small intestine (RPKM 41.0), duodenum (RPKM 39.7) and 17 other tissues See more
    Orthologs
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    Genomic context

    See ERBB3 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56080108..56103505)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56473892..56497289)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369780 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2135 Neighboring gene ribosomal protein S26 Neighboring gene uncharacterized LOC105369782 Neighboring gene proliferation-associated 2G4 Neighboring gene ribosomal protein L41

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
    GeneReviews: Not available
    Acute erythroleukemia, familial
    MedGen: C4746575 OMIM: 133180 GeneReviews: Not available
    Compare labs
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    GeneReviews: Not available
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    GeneReviews: Not available
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    GeneReviews: Not available
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    GeneReviews: Not available
    Lethal congenital contracture syndrome 2
    MedGen: C1843478 OMIM: 607598 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC88033

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ErbB-3 class receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables growth factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables neuregulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables neuregulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables neuregulin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Schwann cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cranial nerve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphatidylinositol 3-kinase signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in wound healing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ERBB3:ERBB2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in basal plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    receptor tyrosine-protein kinase erbB-3
    Names
    human epidermal growth factor receptor 3
    proto-oncogene-like protein c-ErbB-3
    tyrosine kinase-type cell surface receptor HER3
    v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3
    NP_001005915.1
    NP_001973.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011529.1 RefSeqGene

      Range
      4918..28400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_996

    mRNA and Protein(s)

    1. NM_001005915.1NP_001005915.1  receptor tyrosine-protein kinase erbB-3 isoform s precursor

      See identical proteins and their annotated locations for NP_001005915.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (s) lacks many 3' exons found in variant 1 and contains an alternate 3' exon of its own, that causes a frameshift. The resulting isoform (s) is shorter lacking the intermembrane region present in isoform 1, and is secreted outside the cell.
      Source sequence(s)
      AC034102, M34309, S61953
      Consensus CDS
      CCDS44918.1
      UniProtKB/Swiss-Prot
      P21860
      Related
      ENSP00000415753.2, ENST00000411731.6
      Conserved Domains (1) summary
      pfam01030
      Location:56140
      Recep_L_domain; Receptor L domain
    2. NM_001982.4NP_001973.2  receptor tyrosine-protein kinase erbB-3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001973.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA524528, BC082992, BU674508, DC347955
      Consensus CDS
      CCDS31833.1
      UniProtKB/Swiss-Prot
      P21860
      Related
      ENSP00000267101.4, ENST00000267101.8
      Conserved Domains (8) summary
      cd05111
      Location:701979
      PTK_HER3; Pseudokinase domain of the Protein Tyrosine Kinase, HER3
      cd12095
      Location:638676
      TM_ErbB3; Transmembrane domain of ErbB3, a Protein Tyrosine Kinase
      smart00261
      Location:548592
      FU; Furin-like repeats
      cd00064
      Location:226266
      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:183329
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:353474
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:709965
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14843
      Location:499630
      GF_recep_IV; Growth factor receptor domain IV

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      56080108..56103505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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