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

Gene ID: 2065, updated on 9-Feb-2020

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

Genomic context

See ERBB3 in Genome Data Viewer
Location:
12q13.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56080108..56103505)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56473809..56497291)

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
Acute myeloid leukemia, M6 type
MedGen: C4746575 OMIM: 133180 GeneReviews: Not available
Compare labs
Lethal congenital contracture syndrome 2
MedGen: C1843478 OMIM: 607598 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
NHGRI GWA Catalog
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
NHGRI GWA Catalog

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
growth factor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
neuregulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuregulin binding IDA
Inferred from Direct Assay
more info
PubMed 
neuregulin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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 homodimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
protein tyrosine kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane signaling receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
Schwann cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cranial nerve development ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion development IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of secretion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell motility TAS
Traceable Author Statement
more info
 
regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
wound healing NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basal plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    ENSP00000267101.3, ENST00000267101.7
    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 109.20191205

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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