ENSG00000146648


Homo sapiens

Features
Gene ID: ENSG00000146648
  
Biological name :EGFR
  
Synonyms : EGFR / epidermal growth factor receptor / P00533
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p11.2
Gene start: 55019021
Gene end: 55211628
  
Corresponding Affymetrix probe sets: 1565483_at (Human Genome U133 Plus 2.0 Array)   1565484_x_at (Human Genome U133 Plus 2.0 Array)   201983_s_at (Human Genome U133 Plus 2.0 Array)   201984_s_at (Human Genome U133 Plus 2.0 Array)   210984_x_at (Human Genome U133 Plus 2.0 Array)   211550_at (Human Genome U133 Plus 2.0 Array)   211551_at (Human Genome U133 Plus 2.0 Array)   211607_x_at (Human Genome U133 Plus 2.0 Array)   224999_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000395243
Ensembl peptide - ENSP00000413354
Ensembl peptide - ENSP00000492462
Ensembl peptide - ENSP00000415559
Ensembl peptide - ENSP00000413843
Ensembl peptide - ENSP00000275493
Ensembl peptide - ENSP00000342376
Ensembl peptide - ENSP00000345973
NCBI entrez gene - 1956     See in Manteia.
OMIM - 131550
RefSeq - NM_201282
RefSeq - NM_201283
RefSeq - NM_201284
RefSeq - NM_001346897
RefSeq - NM_005228
RefSeq Peptide - NP_005219
RefSeq Peptide - NP_958440
RefSeq Peptide - NP_958441
RefSeq Peptide - NP_001333826
RefSeq Peptide - NP_958439
swissprot - Q504U8
swissprot - C9JYS6
swissprot - A0A1W2PRR9
swissprot - P00533
swissprot - E9PFD7
Ensembl - ENSG00000146648
  
Related genetic diseases (OMIM): 211980 - Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980
  616069 - ?Inflammatory skin and bowel disease, neonatal, 2, 616069
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
 EGFRENSGALG00000038089Gallus gallus
 EgfrENSMUSG00000020122Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4ENSG0000017856853
ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2ENSG0000014173651
ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3ENSG0000006536142
PTK2B / Q14289 / protein tyrosine kinase 2 betaENSG0000012089916
PTK2 / Q05397 / protein tyrosine kinase 2ENSG0000016939816
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:0000186 activation of MAPKK activity IEA
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0001503 ossification NAS
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006412 translation IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006898 receptor-mediated endocytosis IDA
 biological_processGO:0006970 response to osmotic stress IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007166 cell surface receptor signaling pathway IDA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0007202 activation of phospholipase C activity TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007435 salivary gland morphogenesis IEA
 biological_processGO:0007494 midgut development IEA
 biological_processGO:0007611 learning or memory IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0008283 cell proliferation IDA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008544 epidermis development IEA
 biological_processGO:0010750 positive regulation of nitric oxide mediated signal transduction IDA
 biological_processGO:0010960 magnesium ion homeostasis IEA
 biological_processGO:0014066 regulation of phosphatidylinositol 3-kinase signaling IMP
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016101 diterpenoid metabolic process IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0021795 cerebral cortex cell migration IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030307 positive regulation of cell growth IDA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032930 positive regulation of superoxide anion generation IEA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IMP
 biological_processGO:0033590 response to cobalamin IEA
 biological_processGO:0033594 response to hydroxyisoflavone IEA
 biological_processGO:0033993 response to lipid IEA
 biological_processGO:0034614 cellular response to reactive oxygen species IMP
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation TAS
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0042060 wound healing IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042177 negative regulation of protein catabolic process IDA
 biological_processGO:0042327 positive regulation of phosphorylation IDA
 biological_processGO:0042698 ovulation cycle IEA
 biological_processGO:0042743 hydrogen peroxide metabolic process IEA
 biological_processGO:0043006 activation of phospholipase A2 activity by calcium-mediated signaling TAS
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043406 positive regulation of MAP kinase activity IDA
 biological_processGO:0043586 tongue development IEA
 biological_processGO:0045739 positive regulation of DNA repair IDA
 biological_processGO:0045740 positive regulation of DNA replication IDA
 biological_processGO:0045746 negative regulation of Notch signaling pathway TAS
 biological_processGO:0045780 positive regulation of bone resorption IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045907 positive regulation of vasoconstriction IEA
 biological_processGO:0045930 negative regulation of mitotic cell cycle IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046328 regulation of JNK cascade IMP
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:0046777 protein autophosphorylation IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048143 astrocyte activation IEA
 biological_processGO:0048146 positive regulation of fibroblast proliferation IEA
 biological_processGO:0048546 digestive tract morphogenesis IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0048812 neuron projection morphogenesis IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0050729 positive regulation of inflammatory response IEA
 biological_processGO:0050730 regulation of peptidyl-tyrosine phosphorylation IMP
 biological_processGO:0050999 regulation of nitric-oxide synthase activity IDA
 biological_processGO:0051205 protein insertion into membrane TAS
 biological_processGO:0051592 response to calcium ion IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0051968 positive regulation of synaptic transmission, glutamatergic IEA
 biological_processGO:0060571 morphogenesis of an epithelial fold IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0061029 eyelid development in camera-type eye IEA
 biological_processGO:0070141 response to UV-A IDA
 biological_processGO:0070372 regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0071230 cellular response to amino acid stimulus IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0071276 cellular response to cadmium ion IMP
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:0071364 cellular response to epidermal growth factor stimulus IEA
 biological_processGO:0071392 cellular response to estradiol stimulus IDA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:0097755 positive regulation of blood vessel diameter IEA
 biological_processGO:0098609 cell-cell adhesion IMP
 biological_processGO:1900020 positive regulation of protein kinase C activity IDA
 biological_processGO:1901185 negative regulation of ERBB signaling pathway TAS
 biological_processGO:1901224 positive regulation of NIK/NF-kappaB signaling IMP
 biological_processGO:1902722 positive regulation of prolactin secretion IEA
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane IDA
 biological_processGO:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNA IMP
 biological_processGO:1905208 negative regulation of cardiocyte differentiation IMP
 biological_processGO:2000145 regulation of cell motility TAS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space NAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0010008 endosome membrane IEA
 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:0030122 AP-2 adaptor complex TAS
 cellular_componentGO:0030139 endocytic vesicle IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0031901 early endosome membrane IDA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070435 Shc-EGFR complex ISS
 cellular_componentGO:0097489 multivesicular body, internal vesicle lumen IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003690 double-stranded DNA binding NAS
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004709 MAP kinase kinase kinase activity NAS
 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:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IDA
 molecular_functionGO:0005006 epidermal growth factor-activated receptor activity IMP
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005178 integrin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0019903 protein phosphatase binding IPI
 molecular_functionGO:0030235 nitric-oxide synthase regulator activity IDA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0048408 epidermal growth factor binding IEA
 molecular_functionGO:0051015 actin filament binding IDA


Pathways (from Reactome)
Pathway description
Signaling by ERBB2
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PLCG1 events in ERBB2 signaling
PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
GAB1 signalosome
SHC1 events in EGFR signaling
EGFR downregulation
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
EGFR interacts with phospholipase C-gamma
EGFR Transactivation by Gastrin
Constitutive Signaling by Aberrant PI3K in Cancer
Signal transduction by L1
Constitutive Signaling by EGFRvIII
Inhibition of Signaling by Overexpressed EGFR
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
PTK6 promotes HIF1A stabilization
Downregulation of ERBB2 signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
NOTCH3 Activation and Transmission of Signal to the Nucleus


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]
Show

 HP:0000527 Long eyelashes "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001508 Failure to thrive 
Show

 HP:0002013 Vomiting 
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0006532 Pneumonia, recurrent episodes 
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 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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 HP:0100501 Bronchiolitis 
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 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
Show

 HP:0200039 skin pustule "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER]
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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
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction / complex
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / reaction / complex
 ENSG00000124882 EREG / O14944 / epiregulin  / reaction / complex
 ENSG00000127947 PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12  / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / reaction / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction / complex
 ENSG00000074181 NOTCH3 / Q9UM47  / complex / reaction
 ENSG00000136235 GPNMB / Q14956 / glycoprotein nmb  / complex / reaction
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / reaction / complex
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex
 ENSG00000063245 EPN1 / Q9Y6I3 / epsin 1  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / reaction / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000147010 Q96B97 / SH3KBP1 / SH3 domain containing kinase binding protein 1  / reaction
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000085832 EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15  / reaction / complex
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / complex / reaction
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / reaction / complex
 ENSG00000162959 MEMO1 / Q9Y316 / mediator of cell motility 1  / reaction / complex
 ENSG00000102606 Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7  / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000136158 SPRY2 / O43597 / sprouty RTK signaling antagonist 2  / reaction / complex
 ENSG00000007264 MATK / P42679 / megakaryocyte-associated tyrosine kinase  / reaction / complex
 ENSG00000169891 REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2  / complex
 ENSG00000072134 EPN2 / O95208 / epsin 2  / complex / reaction
 ENSG00000188906 LRRK2 / Q5S007 / leucine rich repeat kinase 2  / reaction / complex
 ENSG00000131504 DIAPH1 / O60610 / diaphanous related formin 1  / reaction / complex
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / reaction
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000100644 HIF1A / Q16665 / hypoxia inducible factor 1 alpha subunit  / reaction
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / complex / reaction
 ENSG00000164056 SPRY1 / O43609 / sprouty RTK signaling antagonist 1  / reaction / complex
 ENSG00000112851 ERBIN / Q96RT1 / erbb2 interacting protein  / reaction
 ENSG00000157168 NRG1 / Q02297 / neuregulin 1  / reaction / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction
 ENSG00000174808 BTC / P35070 / betacellulin  / reaction / complex
 ENSG00000169752 NRG4 / Q8WWG1 / neuregulin 4  / reaction / complex






 

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