Gene: EGFR

Basic information

Tag Content
Uniprot ID P00533; O00688; O00732; P06268; Q14225; Q68GS5; Q92795; Q9BZS2; Q9GZX1; Q9H2C9; Q9H3C9; Q9UMD7; Q9UMD8; Q9UMG5;
Entrez ID 1956
Genbank protein ID AAG43240.1; AAA63171.1; AAG35790.1; AAC50799.1; CAA29668.1; AAG43243.1; AAC50800.1; CAA25282.1; AAC50804.1; AAG35789.1; AAC50796.1; AAA52370.1; AAC50802.1; AAC50797.1; AAC50801.1; AAT97979.1; AAC50798.1; AAB53063.1; AAG35786.1; AAK01080.1; AAG35787.1; CAA25240.1; AAS83109.1; AAG35788.1;
Genbank nucleotide ID NM_201284.1; NM_005228.4; NM_201282.1; NM_201283.1;
Ensembl protein ID ENSP00000345973; ENSP00000275493; ENSP00000413843; ENSP00000342376;
Ensembl nucleotide ID ENSG00000146648
Gene name Epidermal growth factor receptor
Gene symbol EGFR
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (PubMed:20462955). Plays a role in enhancing learning and memory performance (By similarity).
Sequence
MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV 60
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA 120
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF 180
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC 240
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV 300
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK 360
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF 420
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL 480
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN 540
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM 600
GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG PKIPSIATGM VGALLLLLVV 660
ALGIGLFMRR RHIVRKRTLR RLLQERELVE PLTPSGEAPN QALLRILKET EFKKIKVLGS 720
GAFGTVYKGL WIPEGEKVKI PVAIKELREA TSPKANKEIL DEAYVMASVD NPHVCRLLGI 780
CLTSTVQLIT QLMPFGCLLD YVREHKDNIG SQYLLNWCVQ IAKGMNYLED RRLVHRDLAA 840
RNVLVKTPQH VKITDFGLAK LLGAEEKEYH AEGGKVPIKW MALESILHRI YTHQSDVWSY 900
GVTVWELMTF GSKPYDGIPA SEISSILEKG ERLPQPPICT IDVYMIMVKC WMIDADSRPK 960
FRELIIEFSK MARDPQRYLV IQGDERMHLP SPTDSNFYRA LMDEEDMDDV VDADEYLIPQ 1020
QGFFSSPSTS RTPLLSSLSA TSNNSTVACI DRNGLQSCPI KEDSFLQRYS SDPTGALTED 1080
SIDDTFLPVP EYINQSVPKR PAGSVQNPVY HNQPLNPAPS RDPHYQDPHS TAVGNPEYLN 1140
TVQPTCVNST FDSPAHWAQK GSHQISLDNP DYQQDFFPKE AKPNGIFKGS TAENAEYLRV 1200
APQSSEFIGA

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


loading...

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEGFR1956P00533Homo sapiensPredictionMore>>
1:1 orthologEgfr13649Q01279CPOE14.5Mus musculusPublicationMore>>
1:1 orthologEGFRH2QUL1Pan troglodytesPredictionMore>>
1:1 orthologEGFRA0A5G2QBP1Sus scrofaPredictionMore>>
1:1 orthologEgfrG3V6K6Rattus norvegicusPredictionMore>>
1:1 orthologegfraA0A0R4IFV9Danio rerioPredictionMore>>

Other genetic variants/mutations

loading...

Disease or phenotype associated information

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001618 virus receptor activityIEA
GO:0003682 chromatin bindingIDA
GO:0003690 double-stranded DNA bindingNAS
GO:0004709 MAP kinase kinase kinase activityNAS
GO:0004713 protein tyrosine kinase activityIMP
GO:0004713 protein tyrosine kinase activityTAS
GO:0004713 protein tyrosine kinase activityIDA
GO:0004714 transmembrane receptor protein tyrosine kinase activityIBA
GO:0004714 transmembrane receptor protein tyrosine kinase activityTAS
GO:0004888 transmembrane signaling receptor activityIDA
GO:0005006 epidermal growth factor-activated receptor activityIDA
GO:0005006 epidermal growth factor-activated receptor activityIBA
GO:0005006 epidermal growth factor-activated receptor activityIMP
GO:0005006 epidermal growth factor-activated receptor activityNAS
GO:0005178 integrin bindingIEA
GO:0005515 protein bindingIPI
GO:0005516 calmodulin bindingIEA
GO:0005524 ATP bindingIEA
GO:0019899 enzyme bindingIPI
GO:0019901 protein kinase bindingIEA
GO:0019903 protein phosphatase bindingIPI
GO:0031625 ubiquitin protein ligase bindingIPI
GO:0042802 identical protein bindingIPI
GO:0045296 cadherin bindingHDA
GO:0048408 epidermal growth factor bindingIBA
GO:0051015 actin filament bindingIDA
GO:0051117 ATPase bindingISS
GO:0030235 nitric-oxide synthase regulator activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000165 MAPK cascadeTAS
GO:0000186 activation of MAPKK activityIEA
GO:0001503 ossificationNAS
GO:0001892 embryonic placenta developmentIEA
GO:0001934 positive regulation of protein phosphorylationIDA
GO:0001942 hair follicle developmentIEA
GO:0006357 regulation of transcription by RNA polymerase IITAS
GO:0006412 translationIEA
GO:0006970 response to osmotic stressIEA
GO:0007165 signal transductionIDA
GO:0007165 signal transductionTAS
GO:0007166 cell surface receptor signaling pathwayIDA
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathwayIBA
GO:0007173 epidermal growth factor receptor signaling pathwayIDA
GO:0007173 epidermal growth factor receptor signaling pathwayIMP
GO:0007173 epidermal growth factor receptor signaling pathwayTAS
GO:0007202 activation of phospholipase C activityTAS
GO:0007275 multicellular organism developmentIBA
GO:0007435 salivary gland morphogenesisIEA
GO:0007494 midgut developmentIEA
GO:0007611 learning or memoryISS
GO:0007623 circadian rhythmIEA
GO:0008283 cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIBA
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008284 positive regulation of cell population proliferationIDA
GO:0010750 positive regulation of nitric oxide mediated signal transductionIDA
GO:0010960 magnesium ion homeostasisIEA
GO:0014066 regulation of phosphatidylinositol 3-kinase signalingIMP
GO:0016101 diterpenoid metabolic processIEA
GO:0018108 peptidyl-tyrosine phosphorylationIDA
GO:0021795 cerebral cortex cell migrationIEA
GO:0030154 cell differentiationIBA
GO:0030307 positive regulation of cell growthIDA
GO:0030324 lung developmentIEA
GO:0030335 positive regulation of cell migrationIMP
GO:0032930 positive regulation of superoxide anion generationIEA
GO:0033138 positive regulation of peptidyl-serine phosphorylationIMP
GO:0033590 response to cobalaminIEA
GO:0033594 response to hydroxyisoflavoneIEA
GO:0033674 positive regulation of kinase activityIBA
GO:0034614 cellular response to reactive oxygen speciesIMP
GO:0038083 peptidyl-tyrosine autophosphorylationIMP
GO:0038083 peptidyl-tyrosine autophosphorylationTAS
GO:0038128 ERBB2 signaling pathwayTAS
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathwayTAS
GO:0042060 wound healingIEA
GO:0042177 negative regulation of protein catabolic processIDA
GO:0042327 positive regulation of phosphorylationIDA
GO:0042698 ovulation cycleIEA
GO:0042743 hydrogen peroxide metabolic processIEA
GO:0043006 activation of phospholipase A2 activity by calcium-mediated signalingTAS
GO:0043066 negative regulation of apoptotic processIMP
GO:0043066 negative regulation of apoptotic processIBA
GO:0043406 positive regulation of MAP kinase activityIDA
GO:0043586 tongue developmentIEA
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activityIMP
GO:0045739 positive regulation of DNA repairIDA
GO:0045740 positive regulation of DNA replicationIDA
GO:0045746 negative regulation of Notch signaling pathwayTAS
GO:0045780 positive regulation of bone resorptionIEA
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0045907 positive regulation of vasoconstrictionIEA
GO:0045930 negative regulation of mitotic cell cycleIEA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0046328 regulation of JNK cascadeIMP
GO:0046718 viral entry into host cellIEA
GO:0046777 protein autophosphorylationIMP
GO:0048143 astrocyte activationIEA
GO:0048146 positive regulation of fibroblast proliferationIEA
GO:0048546 digestive tract morphogenesisIEA
GO:0048661 positive regulation of smooth muscle cell proliferationIEA
GO:0048812 neuron projection morphogenesisIEA
GO:0050679 positive regulation of epithelial cell proliferationIDA
GO:0050679 positive regulation of epithelial cell proliferationIBA
GO:0050729 positive regulation of inflammatory responseIEA
GO:0050730 regulation of peptidyl-tyrosine phosphorylationIMP
GO:0050999 regulation of nitric-oxide synthase activityIDA
GO:0051205 protein insertion into membraneTAS
GO:0051592 response to calcium ionIEA
GO:0051897 positive regulation of protein kinase B signalingIMP
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0051968 positive regulation of synaptic transmission, glutamatergicIEA
GO:0060571 morphogenesis of an epithelial foldIEA
GO:0061024 membrane organizationTAS
GO:0061029 eyelid development in camera-type eyeIEA
GO:0070141 response to UV-AIDA
GO:0070372 regulation of ERK1 and ERK2 cascadeIMP
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIDA
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIMP
GO:0071230 cellular response to amino acid stimulusIEA
GO:0071260 cellular response to mechanical stimulusIEA
GO:0071276 cellular response to cadmium ionIMP
GO:0071364 cellular response to epidermal growth factor stimulusISS
GO:0071392 cellular response to estradiol stimulusIDA
GO:0071549 cellular response to dexamethasone stimulusIEA
GO:0090263 positive regulation of canonical Wnt signaling pathwayIMP
GO:0097421 liver regenerationIEA
GO:0097755 positive regulation of blood vessel diameterIEA
GO:0098609 cell-cell adhesionIMP
GO:1900020 positive regulation of protein kinase C activityIDA
GO:1900087 positive regulation of G1/S transition of mitotic cell cycleIMP
GO:1901185 negative regulation of ERBB signaling pathwayTAS
GO:1901224 positive regulation of NIK/NF-kappaB signalingIMP
GO:1902722 positive regulation of prolactin secretionIEA
GO:1903078 positive regulation of protein localization to plasma membraneIDA
GO:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNAIMP
GO:1905208 negative regulation of cardiocyte differentiationIMP
GO:2000145 regulation of cell motilityTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneIEA
GO:0005615 extracellular spaceNAS
GO:0005634 nucleusIDA
GO:0005737 cytoplasmIDA
GO:0005768 endosomeIDA
GO:0005789 endoplasmic reticulum membraneIEA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneIBA
GO:0005925 focal adhesionHDA
GO:0009925 basal plasma membraneIBA
GO:0009986 cell surfaceIDA
GO:0010008 endosome membraneIDA
GO:0016020 membraneIDA
GO:0016323 basolateral plasma membraneIDA
GO:0016324 apical plasma membraneIEA
GO:0030054 cell junctionIDA
GO:0030139 endocytic vesicleIEA
GO:0030665 clathrin-coated vesicle membraneTAS
GO:0031901 early endosome membraneIDA
GO:0031965 nuclear membraneIEA
GO:0032991 protein-containing complexIDA
GO:0043235 receptor complexIBA
GO:0043235 receptor complexIDA
GO:0045121 membrane raftISS
GO:0045121 membrane raftIDA
GO:0045202 synapseIEA
GO:0048471 perinuclear region of cytoplasmIMP
GO:0070435 Shc-EGFR complexISS
GO:0097489 multivesicular body, internal vesicle lumenIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1227986 Signaling by ERBB2TAS
R-HSA-1227986 Signaling by ERBB2IEA
R-HSA-1227990 Signaling by ERBB2 in CancerTAS
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer VariantsTAS
R-HSA-1236394 Signaling by ERBB4TAS
R-HSA-1250196 SHC1 events in ERBB2 signalingIEA
R-HSA-1250196 SHC1 events in ERBB2 signalingTAS
R-HSA-1251932 PLCG1 events in ERBB2 signalingIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-157118 Signaling by NOTCHTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-1643685 DiseaseTAS
R-HSA-1643713 Signaling by EGFR in CancerTAS
R-HSA-168256 Immune SystemTAS
R-HSA-177929 Signaling by EGFRTAS
R-HSA-179812 GRB2 events in EGFR signalingTAS
R-HSA-180292 GAB1 signalosomeTAS
R-HSA-180336 SHC1 events in EGFR signalingTAS
R-HSA-182971 EGFR downregulationTAS
R-HSA-1963640 GRB2 events in ERBB2 signalingIEA
R-HSA-1963642 PI3K events in ERBB2 signalingTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-199991 Membrane TraffickingTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-212718 EGFR interacts with phospholipase C-gammaTAS
R-HSA-2179392 EGFR Transactivation by GastrinTAS
R-HSA-2219528 PI3K/AKT Signaling in CancerTAS
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerTAS
R-HSA-372790 Signaling by GPCRTAS
R-HSA-373760 L1CAM interactionsTAS
R-HSA-388396 GPCR downstream signallingTAS
R-HSA-416476 G alpha (q) signalling eventsTAS
R-HSA-422475 Axon guidanceTAS
R-HSA-445144 Signal transduction by L1TAS
R-HSA-5637810 Constitutive Signaling by EGFRvIIITAS
R-HSA-5637812 Signaling by EGFRvIII in CancerTAS
R-HSA-5637815 Signaling by Ligand-Responsive EGFR Variants in CancerTAS
R-HSA-5638302 Signaling by Overexpressed Wild-Type EGFR in CancerTAS
R-HSA-5638303 Inhibition of Signaling by Overexpressed EGFRTAS
R-HSA-5653656 Vesicle-mediated transportTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5663205 Infectious diseaseTAS
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-6785631 ERBB2 Regulates Cell MotilityTAS
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPKTAS
R-HSA-8847993 ERBB2 Activates PTK6 SignalingTAS
R-HSA-8848021 Signaling by PTK6TAS
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosisTAS
R-HSA-8856828 Clathrin-mediated endocytosisTAS
R-HSA-8857538 PTK6 promotes HIF1A stabilizationTAS
R-HSA-8863795 Downregulation of ERBB2 signalingTAS
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsTAS
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptorsTAS
R-HSA-8939211 ESR-mediated signalingTAS
R-HSA-9006925 Intracellular signaling by second messengersTAS
R-HSA-9006927 Signaling by Non-Receptor Tyrosine KinasesTAS
R-HSA-9006931 Signaling by Nuclear ReceptorsTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesIEA
R-HSA-9009391 Extra-nuclear estrogen signalingTAS
R-HSA-9012852 Signaling by NOTCH3TAS
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the NucleusTAS
R-HSA-9607240 FLT3 SignalingTAS
R-HSA-9609646 HCMV InfectionTAS
R-HSA-9609690 HCMV Early EventsTAS
R-HSA-9634638 Estrogen-dependent nuclear events downstream of ESR-membrane signalingTAS
R-HSA-9664565 Signaling by ERBB2 KD MutantsTAS

Drugs and compounds information

loading...

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0217 Developmental protein
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0256 Endoplasmic reticulum
KW-0967 Endosome
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
KW-1183 Host cell receptor for virus entry
KW-0945 Host-virus interaction
KW-1017 Isopeptide bond
KW-0418 Kinase
KW-0449 Lipoprotein
KW-0472 Membrane
KW-0488 Methylation
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0564 Palmitate
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0656 Proto-oncogene
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0964 Secreted
KW-0732 Signal
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0829 Tyrosine-protein kinase
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR006211 Furin-like_Cys-rich_dom
IPR006212 Furin_repeat
IPR032778 GF_recep_IV
IPR009030 Growth_fac_rcpt_cys_sf
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR000494 Rcpt_L-dom
IPR036941 Rcpt_L-dom_sf
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008266 Tyr_kinase_AS
IPR020635 Tyr_kinase_cat_dom
IPR016245 Tyr_kinase_EGF/ERB/XmrK_rcpt

PROSITE

PROSITE ID PROSITE Term
PS00107 PROTEIN_KINASE_ATP
PS50011 PROTEIN_KINASE_DOM
PS00109 PROTEIN_KINASE_TYR

Pfam

Pfam ID Pfam Term
PF00757 Furin-like
PF14843 GF_recep_IV
PF07714 Pkinase_Tyr
PF01030 Recep_L_domain

Protein-protein interaction

Protein-miRNA interaction