ENSG00000065361


Homo sapiens

Features
Gene ID: ENSG00000065361
  
Biological name :ERBB3
  
Synonyms : erb-b2 receptor tyrosine kinase 3 / ERBB3 / P21860
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.2
Gene start: 56076799
Gene end: 56103505
  
Corresponding Affymetrix probe sets: 1563252_at (Human Genome U133 Plus 2.0 Array)   1563253_s_at (Human Genome U133 Plus 2.0 Array)   202454_s_at (Human Genome U133 Plus 2.0 Array)   215638_at (Human Genome U133 Plus 2.0 Array)   226213_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449138
Ensembl peptide - ENSP00000449713
Ensembl peptide - ENSP00000495453
Ensembl peptide - ENSP00000482073
Ensembl peptide - ENSP00000267101
Ensembl peptide - ENSP00000408340
Ensembl peptide - ENSP00000415753
Ensembl peptide - ENSP00000447510
Ensembl peptide - ENSP00000448483
Ensembl peptide - ENSP00000448636
Ensembl peptide - ENSP00000448671
Ensembl peptide - ENSP00000448729
Ensembl peptide - ENSP00000448946
Ensembl peptide - ENSP00000449129
NCBI entrez gene - 2065     See in Manteia.
OMIM - 190151
RefSeq - NM_001005915
RefSeq - NM_001982
RefSeq Peptide - NP_001005915
RefSeq Peptide - NP_001973
swissprot - F8VW48
swissprot - F8VW56
swissprot - F8VX90
swissprot - F8VYK4
swissprot - O75812
swissprot - B4DGQ7
swissprot - P21860
swissprot - B3KWG5
swissprot - F8VRI5
swissprot - F8VRL0
Ensembl - ENSG00000065361
  
Related genetic diseases (OMIM): 607598 - Lethal congenital contractural syndrome 2, 607598
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
 erbb3aENSDARG00000006202Danio rerio
 erbb3bENSDARG00000036993Danio rerio
 ERBB3ENSGALG00000033510Gallus gallus
 Erbb3ENSMUSG00000018166Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4ENSG0000017856846
ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2ENSG0000014173638
EGFR / P00533 / epidermal growth factor receptorENSG0000014664838
TNK2 / Q07912 / tyrosine kinase non receptor 2ENSG0000006193813
PTK2 / Q05397 / protein tyrosine kinase 2ENSG0000016939813
PTK2B / Q14289 / protein tyrosine kinase 2 betaENSG0000012089913
ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70ENSG0000011508511
SYK / P43405 / spleen associated tyrosine kinaseENSG0000016502511
TNK1 / Q13470 / tyrosine kinase non receptor 1ENSG0000017429210


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
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR011009  Protein kinase-like domain superfamily
 IPR016245  Tyrosine protein kinase, EGF/ERB/XmrK receptor
 IPR020635  Tyrosine-protein kinase, catalytic domain
 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:0003197 endocardial cushion development IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007162 negative regulation of cell adhesion IDA
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway ISS
 biological_processGO:0007422 peripheral nervous system development ISS
 biological_processGO:0007507 heart development ISS
 biological_processGO:0009968 negative regulation of signal transduction IDA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0014037 Schwann cell differentiation ISS
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling IDA
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0021545 cranial nerve development ISS
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0042060 wound healing NAS
 biological_processGO:0042127 regulation of cell proliferation IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process ISS
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0051048 negative regulation of secretion IDA
 biological_processGO:0051402 neuron apoptotic process IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0055025 positive regulation of cardiac muscle tissue development IEA
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity IMP
 biological_processGO:0070886 positive regulation of calcineurin-NFAT signaling cascade IEA
 biological_processGO:0097192 extrinsic apoptotic signaling pathway in absence of ligand IMP
 biological_processGO:1901185 negative regulation of ERBB signaling pathway TAS
 biological_processGO:2000145 regulation of cell motility TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of 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:0016324 apical plasma membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 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:0004888 transmembrane signaling receptor activity ISS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 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:0019838 growth factor binding ISS
 molecular_functionGO:0030296 protein tyrosine kinase activator activity IDA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0038132 neuregulin binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity NAS
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
 molecular_functionGO:0046982 protein heterodimerization activity IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000126 Hydronephrosis 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0001558 Decreased fetal movement "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators]
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 HP:0001561 Polyhydramnios 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0002304 Akinesia 
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 HP:0002804 Arthrogryposis multiplex congenita 
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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:0007964 Degenerative vitreoretinopathy 
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 HP:0011003 Severe Myopia 
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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
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / complex / reaction
 ENSG00000124882 EREG / O14944 / epiregulin  / reaction / complex
 ENSG00000127947 PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12  / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction / complex
 ENSG00000158458 NRG2 / O14511 / neuregulin 2  / complex / reaction
 ENSG00000141738 GRB7 / Q14451 / growth factor receptor bound protein 7  / complex / reaction
 ENSG00000112851 ERBIN / Q96RT1 / erbb2 interacting protein  / reaction
 ENSG00000157168 NRG1 / Q02297 / neuregulin 1  / reaction / complex
 ENSG00000131504 DIAPH1 / O60610 / diaphanous related formin 1  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / reaction / complex
 ENSG00000007264 MATK / P42679 / megakaryocyte-associated tyrosine kinase  / complex / reaction
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000162959 MEMO1 / Q9Y316 / mediator of cell motility 1  / complex / reaction
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / complex / reaction
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / complex / reaction
 ENSG00000181852 RNF41 / Q9H4P4 / ring finger protein 41  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction
 ENSG00000174808 BTC / P35070 / betacellulin  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000169752 NRG4 / Q8WWG1 / neuregulin 4  / complex / reaction






 

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