Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ERBB4 (erb-b2 receptor tyrosine kinase 4)

Identity

Alias_namesv-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4
v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4
Alias_symbol (synonym)ALS19
HER4
Other aliasp180erbB4
HGNC (Hugo) ERBB4
LocusID (NCBI) 2066
Atlas_Id 40480
Location 2q34  [Link to chromosome band 2q34]
Location_base_pair Starts at 211375717 and ends at 212538628 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATAD2 (8q24.13) / ERBB4 (2q34)ATP2B4 (1q32.1) / ERBB4 (2q34)ERBB4 (2q34) / CSDE1 (1p13.2)
ERBB4 (2q34) / FUS (16p11.2)ERBB4 (2q34) / IKZF2 (2q34)ERBB4 (2q34) / KCNAB1 (3q25.31)
EZR (6q25.3) / ERBB4 (2q34)KANSL1L (2q34) / ERBB4 (2q34)LCLAT1 (2p23.1) / ERBB4 (2q34)
NFIB (9p23) / ERBB4 (2q34)ATAD2 8q24.13 / ERBB4 2q34ATP2B4 1q32.1 / ERBB4 2q34
C2orf67 ERBB4 2q34

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;2)(q32;q34) ATP2B4/ERBB4
t(2;2)(p23;q34) LCLAT1/ERBB4
t(2;8)(q34;q24) ATAD2/ERBB4


External links

Nomenclature
HGNC (Hugo)ERBB4   3432
Cards
Entrez_Gene (NCBI)ERBB4  2066  erb-b2 receptor tyrosine kinase 4
AliasesALS19; HER4; p180erbB4
GeneCards (Weizmann)ERBB4
Ensembl hg19 (Hinxton)ENSG00000178568 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178568 [Gene_View]  ENSG00000178568 [Sequence]  chr2:211375717-212538628 [Contig_View]  ERBB4 [Vega]
ICGC DataPortalENSG00000178568
TCGA cBioPortalERBB4
AceView (NCBI)ERBB4
Genatlas (Paris)ERBB4
WikiGenes2066
SOURCE (Princeton)ERBB4
Genetics Home Reference (NIH)ERBB4
Genomic and cartography
GoldenPath hg38 (UCSC)ERBB4  -     chr2:211375717-212538628 -  2q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERBB4  -     2q34   [Description]    (hg19-Feb_2009)
EnsemblERBB4 - 2q34 [CytoView hg19]  ERBB4 - 2q34 [CytoView hg38]
Mapping of homologs : NCBIERBB4 [Mapview hg19]  ERBB4 [Mapview hg38]
OMIM600543   615515   
Gene and transcription
Genbank (Entrez)AB209697 AF007153 AI793060 AK024204 AK126298
RefSeq transcript (Entrez)NM_001042599 NM_005235
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERBB4
Cluster EST : UnigeneHs.390729 [ NCBI ]
CGAP (NCI)Hs.390729
Alternative Splicing GalleryENSG00000178568
Gene ExpressionERBB4 [ NCBI-GEO ]   ERBB4 [ EBI - ARRAY_EXPRESS ]   ERBB4 [ SEEK ]   ERBB4 [ MEM ]
Gene Expression Viewer (FireBrowse)ERBB4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2066
GTEX Portal (Tissue expression)ERBB4
Human Protein AtlasENSG00000178568-ERBB4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15303   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15303  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15303
Splice isoforms : SwissVarQ15303
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
PhosPhoSitePlusQ15303
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)Furin-like_Cys-rich_dom    Furin_repeat    GF_recep_IV    Growth_fac_rcpt_cys_sf    Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Rcpt_L-dom    Rcpt_L-dom_sf    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_EGF/ERB/XmrK_rcpt   
Domain families : Pfam (Sanger)Furin-like (PF00757)    GF_recep_IV (PF14843)    Pkinase_Tyr (PF07714)    Recep_L_domain (PF01030)   
Domain families : Pfam (NCBI)pfam00757    pfam14843    pfam07714    pfam01030   
Domain families : Smart (EMBL)FU (SM00261)  TyrKc (SM00219)  
Conserved Domain (NCBI)ERBB4
DMDM Disease mutations2066
Blocks (Seattle)ERBB4
PDB (SRS)2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
PDB (PDBSum)2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
PDB (IMB)2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
PDB (RSDB)2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
Structural Biology KnowledgeBase2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
SCOP (Structural Classification of Proteins)2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
CATH (Classification of proteins structures)2AHX    2L2T    2LCX    2R4B    3BBT    3BBW    3BCE    3U2P    3U7U    3U9U   
SuperfamilyQ15303
Human Protein Atlas [tissue]ENSG00000178568-ERBB4 [tissue]
Peptide AtlasQ15303
HPRD02767
IPIIPI00016371   IPI00215722   IPI00816395   IPI00969544   IPI00927238   
Protein Interaction databases
DIP (DOE-UCLA)Q15303
IntAct (EBI)Q15303
FunCoupENSG00000178568
BioGRIDERBB4
STRING (EMBL)ERBB4
ZODIACERBB4
Ontologies - Pathways
QuickGOQ15303
Ontology : AmiGOMAPK cascade  neural crest cell migration  positive regulation of protein phosphorylation  protein tyrosine kinase activity  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane signaling receptor activity  Ras guanyl-nucleotide exchange factor activity  epidermal growth factor receptor binding  epidermal growth factor receptor binding  protein binding  ATP binding  extracellular region  nucleus  nucleoplasm  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  plasma membrane  integral component of plasma membrane  signal transduction  transmembrane receptor protein tyrosine kinase signaling pathway  nervous system development  synapse assembly  heart development  lactation  cell proliferation  positive regulation of cell proliferation  negative regulation of cell proliferation  embryonic pattern specification  basal plasma membrane  negative regulation of signal transduction  positive regulation of phosphatidylinositol 3-kinase signaling  basolateral plasma membrane  cell migration  peptidyl-tyrosine phosphorylation  central nervous system morphogenesis  olfactory bulb interneuron differentiation  cell differentiation  regulation of cell migration  ERBB2 signaling pathway  positive regulation of tyrosine phosphorylation of STAT protein  protein homodimerization activity  negative regulation of apoptotic process  receptor complex  receptor complex  mitochondrial fragmentation involved in apoptotic process  transcription regulatory region DNA binding  cell fate commitment  postsynaptic membrane  positive regulation of transcription, DNA-templated  positive regulation of JAK-STAT cascade  protein autophosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  positive regulation of protein kinase B signaling  positive regulation of cardiac muscle cell proliferation  mammary gland epithelial cell differentiation  mammary gland alveolus development  cardiac muscle tissue regeneration  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  cellular response to epidermal growth factor stimulus  glutamatergic synapse  GABA-ergic synapse  integral component of presynaptic membrane  integral component of postsynaptic density membrane  positive regulation of protein localization to cell surface  regulation of cell motility  negative regulation of neuron migration  
Ontology : EGO-EBIMAPK cascade  neural crest cell migration  positive regulation of protein phosphorylation  protein tyrosine kinase activity  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane signaling receptor activity  Ras guanyl-nucleotide exchange factor activity  epidermal growth factor receptor binding  epidermal growth factor receptor binding  protein binding  ATP binding  extracellular region  nucleus  nucleoplasm  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  plasma membrane  integral component of plasma membrane  signal transduction  transmembrane receptor protein tyrosine kinase signaling pathway  nervous system development  synapse assembly  heart development  lactation  cell proliferation  positive regulation of cell proliferation  negative regulation of cell proliferation  embryonic pattern specification  basal plasma membrane  negative regulation of signal transduction  positive regulation of phosphatidylinositol 3-kinase signaling  basolateral plasma membrane  cell migration  peptidyl-tyrosine phosphorylation  central nervous system morphogenesis  olfactory bulb interneuron differentiation  cell differentiation  regulation of cell migration  ERBB2 signaling pathway  positive regulation of tyrosine phosphorylation of STAT protein  protein homodimerization activity  negative regulation of apoptotic process  receptor complex  receptor complex  mitochondrial fragmentation involved in apoptotic process  transcription regulatory region DNA binding  cell fate commitment  postsynaptic membrane  positive regulation of transcription, DNA-templated  positive regulation of JAK-STAT cascade  protein autophosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  positive regulation of protein kinase B signaling  positive regulation of cardiac muscle cell proliferation  mammary gland epithelial cell differentiation  mammary gland alveolus development  cardiac muscle tissue regeneration  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  cellular response to epidermal growth factor stimulus  glutamatergic synapse  GABA-ergic synapse  integral component of presynaptic membrane  integral component of postsynaptic density membrane  positive regulation of protein localization to cell surface  regulation of cell motility  negative regulation of neuron migration  
Pathways : KEGGErbB signaling pathway    Calcium signaling pathway    Endocytosis    Proteoglycans in cancer   
NDEx NetworkERBB4
Atlas of Cancer Signalling NetworkERBB4
Wikipedia pathwaysERBB4
Orthology - Evolution
OrthoDB2066
GeneTree (enSembl)ENSG00000178568
Phylogenetic Trees/Animal Genes : TreeFamERBB4
HOVERGENQ15303
HOGENOMQ15303
Homologs : HomoloGeneERBB4
Homology/Alignments : Family Browser (UCSC)ERBB4
Gene fusions - Rearrangements
Fusion : MitelmanATAD2/ERBB4 [8q24.13/2q34]  [t(2;8)(q34;q24)]  
Fusion : MitelmanATP2B4/ERBB4 [1q32.1/2q34]  [t(1;2)(q32;q34)]  
Fusion : MitelmanLCLAT1/ERBB4 [2p23.1/2q34]  [t(2;2)(p23;q34)]  
Fusion PortalATAD2 8q24.13 ERBB4 2q34 HNSC
Fusion PortalATP2B4 1q32.1 ERBB4 2q34 LUAD
Fusion PortalC2orf67 ERBB4 2q34 BRCA
Fusion : QuiverERBB4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERBB4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERBB4
dbVarERBB4
ClinVarERBB4
1000_GenomesERBB4 
Exome Variant ServerERBB4
ExAC (Exome Aggregation Consortium)ENSG00000178568
GNOMAD BrowserENSG00000178568
Varsome BrowserERBB4
Genetic variants : HAPMAP2066
Genomic Variants (DGV)ERBB4 [DGVbeta]
DECIPHERERBB4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERBB4 
Mutations
ICGC Data PortalERBB4 
TCGA Data PortalERBB4 
Broad Tumor PortalERBB4
OASIS PortalERBB4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERBB4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERBB4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ERBB4
DgiDB (Drug Gene Interaction Database)ERBB4
DoCM (Curated mutations)ERBB4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERBB4 (select a term)
intoGenERBB4
Cancer3DERBB4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600543    615515   
Orphanet106   
DisGeNETERBB4
MedgenERBB4
Genetic Testing Registry ERBB4
NextProtQ15303 [Medical]
TSGene2066
GENETestsERBB4
Target ValidationERBB4
Huge Navigator ERBB4 [HugePedia]
snp3D : Map Gene to Disease2066
BioCentury BCIQERBB4
ClinGenERBB4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2066
Chemical/Pharm GKB GenePA27847
Clinical trialERBB4
Miscellaneous
canSAR (ICR)ERBB4 (select the gene name)
Probes
Litterature
PubMed305 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERBB4
EVEXERBB4
GoPubMedERBB4
iHOPERBB4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:04:56 CET 2018

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