Gene: Egfr

Basic information

Tag Content
Uniprot ID Q01279
Entrez ID 13649
Genbank protein ID CAA78249.1; AAA17899.1; CAA42219.1; CAA55587.1; AAA53029.1;
Genbank nucleotide ID NM_207655.2
Ensembl protein ID ENSMUSP00000020329
Ensembl nucleotide ID ENSMUSG00000020122
Gene name Epidermal growth factor receptor
Gene symbol Egfr
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 10319864; 7630400;
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:8404850). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF. 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. May also activate the NF-kappa-B signaling cascade. 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. Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (By similarity). 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 (By similarity). Plays a role in enhancing learning and memory performance (PubMed:20639532).
Sequence
MRPSGTARTT LLVLLTALCA AGGALEEKKV CQGTSNRLTQ LGTFEDHFLS LQRMYNNCEV 60
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN ALYENTYALA 120
ILSNYGTNRT GLRELPMRNL QEILIGAVRF SNNPILCNMD TIQWRDIVQN VFMSNMSMDL 180
QSHPSSCPKC DPSCPNGSCW GGGEENCQKL TKIICAQQCS HRCRGRSPSD CCHNQCAAGC 240
TGPRESDCLV CQKFQDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV 300
VTDHGSCVRA CGPDYYEVEE DGIRKCKKCD GPCRKVCNGI GIGEFKDTLS INATNIKHFK 360
YCTAISGDLH ILPVAFKGDS FTRTPPLDPR ELEILKTVKE ITGFLLIQAW PDNWTDLHAF 420
ENLEIIRGRT KQHGQFSLAV VGLNITSLGL RSLKEISDGD VIISGNRNLC YANTINWKKL 480
FGTPNQKTKI MNNRAEKDCK AVNHVCNPLC SSEGCWGPEP RDCVSCQNVS RGRECVEKCN 540
ILEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGIM 600
GENNTLVWKY ADANNVCHLC HANCTYGCAG PGLQGCEVWP SGPKIPSIAT GIVGGLLFIV 660
VVALGIGLFM RRRHIVRKRT LRRLLQEREL VEPLTPSGEA PNQAHLRILK ETEFKKIKVL 720
GSGAFGTVYK GLWIPEGEKV KIPVAIKELR EATSPKANKE ILDEAYVMAS VDNPHVCRLL 780
GICLTSTVQL ITQLMPYGCL LDYVREHKDN IGSQYLLNWC VQIAKGMNYL EDRRLVHRDL 840
AARNVLVKTP QHVKITDFGL AKLLGAEEKE YHAEGGKVPI KWMALESILH RIYTHQSDVW 900
SYGVTVWELM TFGSKPYDGI PASDISSILE KGERLPQPPI CTIDVYMIMV KCWMIDADSR 960
PKFRELILEF SKMARDPQRY LVIQGDERMH LPSPTDSNFY RALMDEEDME DVVDADEYLI 1020
PQQGFFNSPS TSRTPLLSSL SATSNNSTVA CINRNGSCRV KEDAFLQRYS SDPTGAVTED 1080
NIDDAFLPVP EYVNQSVPKR PAGSVQNPVY HNQPLHPAPG RDLHYQNPHS NAVGNPEYLN 1140
TAQPTCLSSG FNSPALWIQK GSHQMSLDNP DYQQDFFPKE TKPNGIFKGP TAENAEYLRV 1200
APPSSEFIGA

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 during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003682 chromatin bindingISS
GO:0003682 chromatin bindingISO
GO:0004713 protein tyrosine kinase activityISS
GO:0004713 protein tyrosine kinase activityISO
GO:0004714 transmembrane receptor protein tyrosine kinase activityIBA
GO:0004888 transmembrane signaling receptor activityISO
GO:0005006 epidermal growth factor-activated receptor activityISO
GO:0005006 epidermal growth factor-activated receptor activityIDA
GO:0005006 epidermal growth factor-activated receptor activityIBA
GO:0005102 signaling receptor bindingISO
GO:0005178 integrin bindingISO
GO:0005515 protein bindingIPI
GO:0005516 calmodulin bindingISO
GO:0005524 ATP bindingIEA
GO:0016301 kinase activityIDA
GO:0019899 enzyme bindingISO
GO:0019901 protein kinase bindingISO
GO:0019903 protein phosphatase bindingISO
GO:0031625 ubiquitin protein ligase bindingISO
GO:0042802 identical protein bindingISO
GO:0044877 protein-containing complex bindingISO
GO:0048408 epidermal growth factor bindingISO
GO:0048408 epidermal growth factor bindingIBA
GO:0048408 epidermal growth factor bindingIDA
GO:0051015 actin filament bindingISO
GO:0030235 nitric-oxide synthase regulator activityISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000186 activation of MAPKK activityISO
GO:0000902 cell morphogenesisIGI
GO:0001892 embryonic placenta developmentIMP
GO:0001934 positive regulation of protein phosphorylationISS
GO:0001934 positive regulation of protein phosphorylationISO
GO:0001942 hair follicle developmentIMP
GO:0001942 hair follicle developmentIGI
GO:0006412 translationISO
GO:0006970 response to osmotic stressIEA
GO:0007165 signal transductionISO
GO:0007165 signal transductionIDA
GO:0007166 cell surface receptor signaling pathwayISO
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathwayIBA
GO:0007173 epidermal growth factor receptor signaling pathwayISO
GO:0007173 epidermal growth factor receptor signaling pathwayIDA
GO:0007173 epidermal growth factor receptor signaling pathwayIMP
GO:0007173 epidermal growth factor receptor signaling pathwayIGI
GO:0007275 multicellular organism developmentIBA
GO:0007435 salivary gland morphogenesisIMP
GO:0007494 midgut developmentIEA
GO:0007611 learning or memoryISO
GO:0007623 circadian rhythmIEA
GO:0008283 cell population proliferationISO
GO:0008284 positive regulation of cell population proliferationISO
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIGI
GO:0008284 positive regulation of cell population proliferationIBA
GO:0008544 epidermis developmentIMP
GO:0010750 positive regulation of nitric oxide mediated signal transductionISO
GO:0010960 magnesium ion homeostasisISO
GO:0014066 regulation of phosphatidylinositol 3-kinase signalingISO
GO:0016101 diterpenoid metabolic processIEA
GO:0018108 peptidyl-tyrosine phosphorylationISO
GO:0021795 cerebral cortex cell migrationIMP
GO:0030154 cell differentiationIBA
GO:0030307 positive regulation of cell growthISS
GO:0030307 positive regulation of cell growthISO
GO:0030324 lung developmentIEA
GO:0030335 positive regulation of cell migrationISO
GO:0032930 positive regulation of superoxide anion generationISO
GO:0033138 positive regulation of peptidyl-serine phosphorylationISO
GO:0033590 response to cobalaminIEA
GO:0033594 response to hydroxyisoflavoneIEA
GO:0033674 positive regulation of kinase activityIBA
GO:0034614 cellular response to reactive oxygen speciesISO
GO:0035556 intracellular signal transductionISO
GO:0038083 peptidyl-tyrosine autophosphorylationISO
GO:0042060 wound healingISO
GO:0042127 regulation of cell population proliferationIGI
GO:0042177 negative regulation of protein catabolic processISO
GO:0042327 positive regulation of phosphorylationISO
GO:0042698 ovulation cycleISO
GO:0042743 hydrogen peroxide metabolic processIEA
GO:0043066 negative regulation of apoptotic processISO
GO:0043066 negative regulation of apoptotic processIBA
GO:0043406 positive regulation of MAP kinase activityISO
GO:0043586 tongue developmentIEA
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activityISO
GO:0045739 positive regulation of DNA repairISO
GO:0045740 positive regulation of DNA replicationISO
GO:0045780 positive regulation of bone resorptionISO
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0045907 positive regulation of vasoconstrictionISO
GO:0045930 negative regulation of mitotic cell cycleISO
GO:0045944 positive regulation of transcription by RNA polymerase IIISS
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0046328 regulation of JNK cascadeISO
GO:0046777 protein autophosphorylationISO
GO:0046777 protein autophosphorylationIDA
GO:0048143 astrocyte activationISO
GO:0048146 positive regulation of fibroblast proliferationIMP
GO:0048546 digestive tract morphogenesisIMP
GO:0048661 positive regulation of smooth muscle cell proliferationISO
GO:0048812 neuron projection morphogenesisISO
GO:0050679 positive regulation of epithelial cell proliferationISO
GO:0050679 positive regulation of epithelial cell proliferationIBA
GO:0050679 positive regulation of epithelial cell proliferationIMP
GO:0050729 positive regulation of inflammatory responseISO
GO:0050730 regulation of peptidyl-tyrosine phosphorylationISO
GO:0050730 regulation of peptidyl-tyrosine phosphorylationIMP
GO:0050999 regulation of nitric-oxide synthase activityISO
GO:0051592 response to calcium ionISO
GO:0051897 positive regulation of protein kinase B signalingISO
GO:0051968 positive regulation of synaptic transmission, glutamatergicISO
GO:0060571 morphogenesis of an epithelial foldIMP
GO:0061029 eyelid development in camera-type eyeIGI
GO:0070141 response to UV-AISO
GO:0070372 regulation of ERK1 and ERK2 cascadeISO
GO:0070374 positive regulation of ERK1 and ERK2 cascadeISS
GO:0070374 positive regulation of ERK1 and ERK2 cascadeISO
GO:0071230 cellular response to amino acid stimulusIDA
GO:0071260 cellular response to mechanical stimulusIEA
GO:0071276 cellular response to cadmium ionISO
GO:0071363 cellular response to growth factor stimulusIDA
GO:0071364 cellular response to epidermal growth factor stimulusISO
GO:0071392 cellular response to estradiol stimulusISS
GO:0071392 cellular response to estradiol stimulusISO
GO:0071549 cellular response to dexamethasone stimulusIEA
GO:0090263 positive regulation of canonical Wnt signaling pathwayISO
GO:0097421 liver regenerationIEA
GO:0097755 positive regulation of blood vessel diameterISO
GO:0098609 cell-cell adhesionISO
GO:1900020 positive regulation of protein kinase C activityISO
GO:1900087 positive regulation of G1/S transition of mitotic cell cycleISO
GO:1901224 positive regulation of NIK/NF-kappaB signalingISO
GO:1902722 positive regulation of prolactin secretionISO
GO:1902966 positive regulation of protein localization to early endosomeISS
GO:1903078 positive regulation of protein localization to plasma membraneISO
GO:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNAISO
GO:1905208 negative regulation of cardiocyte differentiationISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneIEA
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005737 cytoplasmISO
GO:0005768 endosomeISS
GO:0005768 endosomeISO
GO:0005789 endoplasmic reticulum membraneIEA
GO:0005886 plasma membraneISO
GO:0005886 plasma membraneIDA
GO:0005887 integral component of plasma membraneIBA
GO:0009925 basal plasma membraneIBA
GO:0009986 cell surfaceISO
GO:0009986 cell surfaceIDA
GO:0010008 endosome membraneISO
GO:0016020 membraneISO
GO:0016323 basolateral plasma membraneISO
GO:0016323 basolateral plasma membraneIDA
GO:0016324 apical plasma membraneISO
GO:0030054 cell junctionISO
GO:0030139 endocytic vesicleISO
GO:0030139 endocytic vesicleIDA
GO:0031901 early endosome membraneISO
GO:0031965 nuclear membraneIEA
GO:0032991 protein-containing complexISO
GO:0043235 receptor complexIBA
GO:0043235 receptor complexISO
GO:0045121 membrane raftISO
GO:0045202 synapseISO
GO:0048471 perinuclear region of cytoplasmISO
GO:0048471 perinuclear region of cytoplasmIDA
GO:0097489 multivesicular body, internal vesicle lumenISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1227986 Signaling by ERBB2IEA
R-MMU-1236394 Signaling by ERBB4IEA
R-MMU-1250196 SHC1 events in ERBB2 signalingIEA
R-MMU-1257604 PIP3 activates AKT signalingIEA
R-MMU-1266738 Developmental BiologyIEA
R-MMU-1280215 Cytokine Signaling in Immune systemIEA
R-MMU-157118 Signaling by NOTCHIEA
R-MMU-162582 Signal TransductionIEA
R-MMU-168256 Immune SystemIEA
R-MMU-177929 Signaling by EGFRIEA
R-MMU-179812 GRB2 events in EGFR signalingIEA
R-MMU-180292 GAB1 signalosomeIEA
R-MMU-180336 SHC1 events in EGFR signalingIEA
R-MMU-182971 EGFR downregulationIEA
R-MMU-1963642 PI3K events in ERBB2 signalingIEA
R-MMU-199418 Negative regulation of the PI3K/AKT networkIEA
R-MMU-199991 Membrane TraffickingIEA
R-MMU-212718 EGFR interacts with phospholipase C-gammaIEA
R-MMU-2179392 EGFR Transactivation by GastrinIEA
R-MMU-372790 Signaling by GPCRIEA
R-MMU-373760 L1CAM interactionsIEA
R-MMU-388396 GPCR downstream signallingIEA
R-MMU-416476 G alpha (q) signalling eventsIEA
R-MMU-422475 Axon guidanceIEA
R-MMU-445144 Signal transduction by L1IEA
R-MMU-5653656 Vesicle-mediated transportIEA
R-MMU-5673001 RAF/MAP kinase cascadeIEA
R-MMU-5683057 MAPK family signaling cascadesIEA
R-MMU-5684996 MAPK1/MAPK3 signalingIEA
R-MMU-6785631 ERBB2 Regulates Cell MotilityIEA
R-MMU-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingIEA
R-MMU-881907 Gastrin-CREB signalling pathway via PKC and MAPKIEA
R-MMU-8847993 ERBB2 Activates PTK6 SignalingIEA
R-MMU-8848021 Signaling by PTK6IEA
R-MMU-8856825 Cargo recognition for clathrin-mediated endocytosisIEA
R-MMU-8856828 Clathrin-mediated endocytosisIEA
R-MMU-8857538 PTK6 promotes HIF1A stabilizationIEA
R-MMU-8863795 Downregulation of ERBB2 signalingIEA
R-MMU-8939211 ESR-mediated signalingIEA
R-MMU-9006925 Intracellular signaling by second messengersIEA
R-MMU-9006927 Signaling by Non-Receptor Tyrosine KinasesIEA
R-MMU-9006931 Signaling by Nuclear ReceptorsIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA
R-MMU-9009391 Extra-nuclear estrogen signalingIEA
R-MMU-9012852 Signaling by NOTCH3IEA
R-MMU-9013507 NOTCH3 Activation and Transmission of Signal to the NucleusIEA
R-MMU-9607240 FLT3 SignalingIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0217 Developmental protein
KW-1015 Disulfide bond
KW-0256 Endoplasmic reticulum
KW-0967 Endosome
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
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-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
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