ENSG00000178568


Homo sapiens

Features
Gene ID: ENSG00000178568
  
Biological name :ERBB4
  
Synonyms : erb-b2 receptor tyrosine kinase 4 / ERBB4 / Q15303
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q34
Gene start: 211375717
Gene end: 212538841
  
Corresponding Affymetrix probe sets: 206794_at (Human Genome U133 Plus 2.0 Array)   214053_at (Human Genome U133 Plus 2.0 Array)   233494_at (Human Genome U133 Plus 2.0 Array)   233498_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000405564
Ensembl peptide - ENSP00000342235
Ensembl peptide - ENSP00000385565
Ensembl peptide - ENSP00000403204
Ensembl peptide - ENSP00000260943
NCBI entrez gene - 2066     See in Manteia.
OMIM - 600543
RefSeq - XM_017003582
RefSeq - XM_006712364
RefSeq - XM_017003577
RefSeq - XM_017003578
RefSeq - XM_017003579
RefSeq - XM_017003580
RefSeq - XM_017003581
RefSeq - NM_001042599
RefSeq - NM_005235
RefSeq - XM_005246376
RefSeq - XM_005246377
RefSeq Peptide - NP_001036064
RefSeq Peptide - NP_005226
swissprot - E9PDR1
swissprot - H3BLT0
swissprot - Q15303
swissprot - A0A0A0MSE1
Ensembl - ENSG00000178568
  
Related genetic diseases (OMIM): 615515 - Amyotrophic lateral sclerosis 19, 615515
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 egfraENSDARG00000013847Danio rerio
 LO018309.1ENSDARG00000056909Danio rerio
 ERBB4ENSGALG00000003126Gallus gallus
 Erbb4ENSMUSG00000062209Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EGFR / P00533 / epidermal growth factor receptorENSG0000014664849
ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3ENSG0000006536147
ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2ENSG0000014173646
PTK2B / Q14289 / protein tyrosine kinase 2 betaENSG0000012089916
PTK2 / Q05397 / protein tyrosine kinase 2ENSG0000016939815
TNK2 / Q07912 / tyrosine kinase non receptor 2ENSG0000006193814
SYK / P43405 / spleen associated tyrosine kinaseENSG0000016502513
TNK1 / Q13470 / tyrosine kinase non receptor 1ENSG0000017429212
ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70ENSG0000011508512


Protein motifs (from Interpro)
Interpro ID Name
 IPR000494  Receptor L-domain
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR006211  Furin-like cysteine-rich domain
 IPR006212  Furin-like repeat
 IPR008266  Tyrosine-protein kinase, active site
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR011009  Protein kinase-like domain superfamily
 IPR016245  Tyrosine protein kinase, EGF/ERB/XmrK receptor
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR032675  Leucine-rich repeat domain superfamily
 IPR032778  Growth factor receptor domain 4
 IPR036941  Receptor L-domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001755 neural crest cell migration ISS
 biological_processGO:0001934 positive regulation of protein phosphorylation TAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development ISS
 biological_processGO:0007507 heart development ISS
 biological_processGO:0007595 lactation IMP
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0009880 embryonic pattern specification ISS
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016477 cell migration IDA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0021551 central nervous system morphogenesis ISS
 biological_processGO:0021889 olfactory bulb interneuron differentiation ISS
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030334 regulation of cell migration ISS
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IEA
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IMP
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043653 mitochondrial fragmentation involved in apoptotic process IMP
 biological_processGO:0045165 cell fate commitment IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation ISS
 biological_processGO:0060644 mammary gland epithelial cell differentiation ISS
 biological_processGO:0060749 mammary gland alveolus development ISS
 biological_processGO:0061026 cardiac muscle tissue regeneration ISS
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0071364 cellular response to epidermal growth factor stimulus IEA
 biological_processGO:1901185 negative regulation of ERBB signaling pathway TAS
 biological_processGO:2000010 positive regulation of protein localization to cell surface IEA
 biological_processGO:2000145 regulation of cell motility TAS
 biological_processGO:2001223 negative regulation of neuron migration IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0043235 receptor complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IEA
 molecular_functionGO:0004716 obsolete signal transducer, downstream of receptor, with protein tyrosine kinase activity IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005154 epidermal growth factor receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IMP
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002180 Neurodegeneration 
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 HP:0002747 Respiratory insufficiency due to muscle weakness 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0005945 Laryngeal obstruction 
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 HP:0006957 Loss of ability to walk 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / reaction
 ENSG00000205155 PSENEN / Q9NZ42 / presenilin enhancer gamma-secretase subunit  / reaction
 ENSG00000117362 APH1A / Q96BI3 / aph-1 homolog A, gamma-secretase subunit  / reaction
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / reaction / complex
 ENSG00000124882 EREG / O14944 / epiregulin  / complex / reaction
 ENSG00000127947 PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12  / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000078747 ITCH / Q96J02 / itchy E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / reaction / complex
 ENSG00000123124 WWP1 / Q9H0M0 / WW domain containing E3 ubiquitin protein ligase 1  / complex / reaction
 ENSG00000158458 NRG2 / O14511 / neuregulin 2  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / complex / reaction
 ENSG00000169752 NRG4 / Q8WWG1 / neuregulin 4  / complex / reaction
 ENSG00000162959 MEMO1 / Q9Y316 / mediator of cell motility 1  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000137693 YAP1 / P46937 / Yes associated protein 1  / complex / reaction
 ENSG00000065361 ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3  / reaction / complex
 ENSG00000007264 MATK / P42679 / megakaryocyte-associated tyrosine kinase  / reaction / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / reaction / complex
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / complex / reaction
 ENSG00000157168 NRG1 / Q02297 / neuregulin 1  / complex / reaction
 ENSG00000174808 BTC / P35070 / betacellulin  / complex / reaction
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / complex / reaction
 ENSG00000131504 DIAPH1 / O60610 / diaphanous related formin 1  / reaction / complex
 ENSG00000138613 APH1B / Q8WW43 / aph-1 homolog B, gamma-secretase subunit  / reaction
 ENSG00000112851 ERBIN / Q96RT1 / erbb2 interacting protein  / reaction
 ENSG00000151694 ADAM17 / P78536 / ADAM metallopeptidase domain 17  / reaction
 ENSG00000141027 NCOR1 / O75376 / nuclear receptor corepressor 1  / reaction / complex
 ENSG00000162736 NCSTN / Q92542 / nicastrin  / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000069869 NEDD4 / P46934 / neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000080815 PSEN1 / P49768 / presenilin 1  / reaction
 ENSG00000186153 WWOX / Q9NZC7 / WW domain containing oxidoreductase  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000055208 TAB2 / Q9NYJ8 / TGF-beta activated kinase 1/MAP3K7 binding protein 2  / reaction / complex
 ENSG00000143801 PSEN2 / P49810 / presenilin 2  / reaction






 

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