ENSG00000141736


Homo sapiens

Features
Gene ID: ENSG00000141736
  
Biological name :ERBB2
  
Synonyms : ERBB2 / erb-b2 receptor tyrosine kinase 2 / P04626
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q12
Gene start: 39687914
Gene end: 39730426
  
Corresponding Affymetrix probe sets: 210930_s_at (Human Genome U133 Plus 2.0 Array)   216836_s_at (Human Genome U133 Plus 2.0 Array)   234354_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464252
Ensembl peptide - ENSP00000463719
Ensembl peptide - ENSP00000464420
Ensembl peptide - ENSP00000269571
Ensembl peptide - ENSP00000385185
Ensembl peptide - ENSP00000462808
Ensembl peptide - ENSP00000462438
Ensembl peptide - ENSP00000462024
Ensembl peptide - ENSP00000446466
Ensembl peptide - ENSP00000404047
Ensembl peptide - ENSP00000463002
Ensembl peptide - ENSP00000463427
Ensembl peptide - ENSP00000463714
NCBI entrez gene - 2064     See in Manteia.
OMIM - 164870
RefSeq - NM_001005862
RefSeq - NM_001289937
RefSeq - NM_001289938
RefSeq - NM_004448
RefSeq - NM_001289936
RefSeq Peptide - NP_001276867
RefSeq Peptide - NP_001276866
RefSeq Peptide - NP_001276865
RefSeq Peptide - NP_001005862
RefSeq Peptide - NP_004439
swissprot - X5DNK3
swissprot - B4DTR1
swissprot - F5H1T4
swissprot - J3KRI9
swissprot - J3KTI5
swissprot - J3QL83
swissprot - J3QLU9
swissprot - J3QLV2
swissprot - J3QRJ7
swissprot - J3QRX1
swissprot - P04626
Ensembl - ENSG00000141736
  
Related genetic diseases (OMIM): 137800 - Glioblastoma, somatic, 137800
  164870 - Ovarian cancer, somatic,
  211980 - Adenocarcinoma of lung, somatic, 211980
  613659 - Gastric cancer, somatic, 613659
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
 erbb2ENSDARG00000026294Danio rerio
 ERBB2ENSGALG00000031529Gallus gallus
 Erbb2ENSMUSG00000062312Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EGFR / P00533 / epidermal growth factor receptorENSG0000014664849
ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4ENSG0000017856848
ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3ENSG0000006536141
PTK2 / Q05397 / protein tyrosine kinase 2ENSG0000016939816
TNK2 / Q07912 / tyrosine kinase non receptor 2ENSG0000006193815
PTK2B / Q14289 / protein tyrosine kinase 2 betaENSG0000012089915
SYK / P43405 / spleen associated tyrosine kinaseENSG0000016502512
ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70ENSG0000011508512
TNK1 / Q13470 / tyrosine kinase non receptor 1ENSG0000017429211


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:0001934 positive regulation of protein phosphorylation ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006468 protein phosphorylation TAS
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007166 cell surface receptor signaling pathway IDA
 biological_processGO:0007167 enzyme linked receptor protein signaling pathway TAS
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007422 peripheral nervous system development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0008045 motor neuron axon guidance IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030307 positive regulation of cell growth IMP
 biological_processGO:0032886 regulation of microtubule-based process IDA
 biological_processGO:0033088 negative regulation of immature T cell proliferation in thymus IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0042060 wound healing IDA
 biological_processGO:0042552 myelination IEA
 biological_processGO:0043406 positive regulation of MAP kinase activity IDA
 biological_processGO:0043547 positive regulation of GTPase activity ISS
 biological_processGO:0045727 positive regulation of translation IMP
 biological_processGO:0045765 regulation of angiogenesis NAS
 biological_processGO:0045785 positive regulation of cell adhesion IDA
 biological_processGO:0045943 positive regulation of transcription by RNA polymerase I IMP
 biological_processGO:0045945 positive regulation of transcription by RNA polymerase III IDA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048709 oligodendrocyte differentiation IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IDA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0070372 regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0071363 cellular response to growth factor stimulus IDA
 biological_processGO:0071364 cellular response to epidermal growth factor stimulus IMP
 biological_processGO:0090314 positive regulation of protein targeting to membrane IDA
 biological_processGO:1901185 negative regulation of ERBB signaling pathway TAS
 biological_processGO:2000145 regulation of cell motility TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0010008 endosome membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0043235 receptor complex TAS
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001042 RNA polymerase I core binding IDA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IGI
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IDA
 molecular_functionGO:0004716 obsolete signal transducer, downstream of receptor, with protein tyrosine kinase activity TAS
 molecular_functionGO:0004888 transmembrane signaling receptor activity IDA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019838 growth factor binding IDA
 molecular_functionGO:0019903 protein phosphatase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043125 ErbB-3 class receptor binding TAS
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0046983 protein dimerization activity NAS


Pathways (from Reactome)
Pathway description
Signaling by ERBB2
SHC1 events in ERBB2 signaling
PLCG1 events in ERBB2 signaling
PIP3 activates AKT signaling
GRB7 events in ERBB2 signaling
Downregulation of ERBB2:ERBB3 signaling
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Sema4D induced cell migration and growth-cone collapse
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors


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: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:0001428 Somatic mutation 
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 HP:0002888 Ependymoma 
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0009592 Astrocytoma "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators]
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 HP:0012126 Stomach cancer "A cancer arising in any part of the stomach." [HPO:probinson]
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 HP:0012174 Glioblastoma multiforme "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, pmid:10841526]
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 HP:0410067 Increased level of L-fucose in urine "An increase in the level of L-fucose in the urine." [PMID:2311216]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072135 PTPN18 / Q99952 / protein tyrosine phosphatase, non-receptor type 18  / complex / reaction
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / complex / reaction
 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  / reaction / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / complex / reaction
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / complex / reaction
 ENSG00000164050 O43157 / PLXNB1 / plexin B1  / complex
 ENSG00000158458 NRG2 / O14511 / neuregulin 2  / complex / reaction
 ENSG00000141738 GRB7 / Q14451 / growth factor receptor bound protein 7  / reaction / complex
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / complex / reaction
 ENSG00000157168 NRG1 / Q02297 / neuregulin 1  / complex / reaction
 ENSG00000065361 ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3  / complex / reaction
 ENSG00000143878 RHOB / P62745 / ras homolog family member B  / reaction
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000196914 Q9NZN5 / ARHGEF12 / Rho guanine nucleotide exchange factor 12  / reaction / complex
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / reaction / complex
 ENSG00000187764 Q92854 / SEMA4D / semaphorin 4D  / complex / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000112851 ERBIN / Q96RT1 / erbb2 interacting protein  / complex / reaction
 ENSG00000131504 DIAPH1 / O60610 / diaphanous related formin 1  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000132694 O15085 / ARHGEF11 / Rho guanine nucleotide exchange factor 11  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / complex / reaction
 ENSG00000169752 NRG4 / Q8WWG1 / neuregulin 4  / complex / reaction
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / reaction
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / complex / reaction
 ENSG00000155366 RHOC / P08134 / ras homolog family member C  / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000162959 MEMO1 / Q9Y316 / mediator of cell motility 1  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000174808 BTC / P35070 / betacellulin  / complex / reaction
 ENSG00000181852 RNF41 / Q9H4P4 / ring finger protein 41  / complex / reaction
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction / complex
 ENSG00000007264 MATK / P42679 / megakaryocyte-associated tyrosine kinase  / reaction / complex
 ENSG00000172602 RND1 / Q92730 / Rho family GTPase 1  / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction






 

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