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Gene Gene information from NCBI Gene database.
Entrez ID 1956
Gene name Epidermal growth factor receptor
Gene symbol EGFR
Synonyms (NCBI Gene)
ERBBERBB1ERRPHER1NISBD2NNCISPIG61mENA
Chromosome 7
Chromosome location 7p11.2
Summary The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growt
SNPs SNP information provided by dbSNP.
76 Show/Hide all (76)
SNP ID Visualize variation Clinical significance Consequence
rs28929495 G>A,C,T Pathogenic, likely-pathogenic, not-provided, drug-response Missense variant, genic downstream transcript variant, coding sequence variant
rs121434568 T>A,G Drug-response, pathogenic, likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121913229 G>C Uncertain-significance, likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121913231 C>T Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121913418 G>A,T Uncertain-significance, likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
248 Show/Hide all (248)
miRTarBase ID miRNA Experiments Reference
MIRT002289 hsa-miR-7-5p real-time RT-PCRReporter assayWestern blot 18483236
MIRT002289 hsa-miR-7-5p Luciferase reporter assay 18483236
MIRT002289 hsa-miR-7-5p Luciferase reporter assay 18483236
MIRT002289 hsa-miR-7-5p Luciferase reporter assay 18483236
MIRT002289 hsa-miR-7-5p Western blot 18483236
Transcription factors Transcription factors information provided by TRRUST V2 database.
33 Show/Hide all (33)
Transcription factor Regulation Reference
AR Activation 11556855;21613411
BCL3 Activation 17881446
BRCA1 Repression 21396117
CREBBP Unknown 21464950
EGR1 Activation 11830539
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
156 Show/Hide all (156)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001503 Process Ossification NAS 12925580
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131550 3236 ENSG00000146648
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00533
Protein name Epidermal growth factor receptor (EC 2.7.10.1) (Proto-oncogene c-ErbB-1) (Receptor tyrosine-protein kinase erbB-1)
Protein function Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536, PubMed:2790960, PubMed:35538033). Known lig
PDB 1IVO , 1M14 , 1M17 , 1MOX , 1NQL , 1XKK , 1YY9 , 1Z9I , 2EB2 , 2EB3 , 2GS2 , 2GS6 , 2GS7 , 2ITN , 2ITO , 2ITP , 2ITQ , 2ITT , 2ITU , 2ITV , 2ITW , 2ITX , 2ITY , 2ITZ , 2J5E , 2J5F , 2J6M , 2JIT , 2JIU , 2JIV , 2KS1 , 2M0B , 2M20 , 2N5S , 2RF9 , 2RFD , 2RFE , 2RGP , 3B2U , 3B2V , 3BEL , 3BUO , 3C09 , 3G5V , 3G5Y , 3GOP , 3GT8 , 3IKA , 3LZB , 3NJP , 3OB2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00757 Furin-like 177 → 338 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 57 → 168 Receptor L domain Repeat
PF01030 Recep_L_domain 361 → 481 Receptor L domain Repeat
PF14843 GF_recep_IV 505 → 637 Growth factor receptor domain IV Domain
PF07714 PK_Tyr_Ser-Thr 712 → 968 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 2 is also expressed in ovarian cancers. {ECO:0000269|PubMed:17671655}.
Sequence
MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEV
VLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALA
VLSNYDANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIV
SSDFLSNMSMDF
QNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRGKSPSDCCHNQCAAGC
TGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYV
VTDHGSCVRACGADSYEMEEDGVRKCKKCEGPCRKVCN
GIGIGEFKDSLSINATNIKHFK
NCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFLLIQAWPENRTDLHAF
ENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKL
F
GTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCN
LLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVM
GENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCP
TNGPKIPSIATGMVGALLLLLVV
ALGIGLFMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGS
GAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYVMASVDNPHVCRLLGI
CLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAA
RNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSY
GVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPK
FRELIIEF
SKMARDPQRYLVIQGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQ
QGFFSSPSTSRTPLLSSLSATSNNSTVACIDRNGLQSCPIKEDSFLQRYSSDPTGALTED
SIDDTFLPVPEYINQSVPKRPAGSVQNPVYHNQPLNPAPSRDPHYQDPHSTAVGNPEYLN
TVQPTCVNSTFDSPAHWAQKGSHQISLDNPDYQQDFFPKEAKPNGIFKGSTAENAEYLRV
APQSSEFIGA
Sequence length 1210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
EGFR tyrosine kinase inhibitor resistance Signaling by ERBB2
Endocrine resistance Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Virion - Hepatitis viruses Signaling by ERBB4
MAPK signaling pathway SHC1 events in ERBB2 signaling
ErbB signaling pathway PIP3 activates AKT signaling
Ras signaling pathway Signaling by EGFR
Rap1 signaling pathway GRB2 events in EGFR signaling
Calcium signaling pathway GAB1 signalosome
HIF-1 signaling pathway SHC1 events in EGFR signaling
FoxO signaling pathway EGFR downregulation
Phospholipase D signaling pathway PI3K events in ERBB2 signaling
Endocytosis EGFR interacts with phospholipase C-gamma
PI3K-Akt signaling pathway EGFR Transactivation by Gastrin
Focal adhesion Constitutive Signaling by Aberrant PI3K in Cancer
Adherens junction Signal transduction by L1
Gap junction Constitutive Signaling by EGFRvIII
JAK-STAT signaling pathway Inhibition of Signaling by Overexpressed EGFR
Regulation of actin cytoskeleton RAF/MAP kinase cascade
GnRH signaling pathway ERBB2 Regulates Cell Motility
Estrogen signaling pathway PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Oxytocin signaling pathway ERBB2 Activates PTK6 Signaling
Relaxin signaling pathway Cargo recognition for clathrin-mediated endocytosis
Parathyroid hormone synthesis, secretion and action Clathrin-mediated endocytosis
Cushing syndrome PTK6 promotes HIF1A stabilization
Epithelial cell signaling in Helicobacter pylori infection Downregulation of ERBB2 signaling
Shigellosis TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
Hepatitis C Extra-nuclear estrogen signaling
Human cytomegalovirus infection NOTCH3 Activation and Transmission of Signal to the Nucleus
Human papillomavirus infection HCMV Early Events
Coronavirus disease - COVID-19 Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Pathways in cancer Signaling by ERBB2 KD Mutants
Proteoglycans in cancer Signaling by ERBB2 ECD mutants
MicroRNAs in cancer Signaling by ERBB2 TMD/JMD mutants
Chemical carcinogenesis - receptor activation  
Chemical carcinogenesis - reactive oxygen species  
Colorectal cancer  
Pancreatic cancer  
Endometrial cancer  
Glioma  
Prostate cancer  
Melanoma  
Bladder cancer  
Non-small cell lung cancer  
Breast cancer  
Hepatocellular carcinoma  
Gastric cancer  
Central carbon metabolism in cancer  
Choline metabolism in cancer  
PD-L1 expression and PD-1 checkpoint pathway in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
98
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (14)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cowden syndrome 1 Pathogenic rs886037891 RCV000256393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EGFR-related lung cancer Pathogenic; Likely pathogenic rs1785702810, rs1787407972, rs748491031, rs1785628941, rs1166325650, rs1787409872, rs2128965518, rs1034084415, rs2128971690, rs2128958231, rs2128935161, rs776490661, rs2128951424, rs2128969953, rs2128968655
View all (34 more)
RCV001315475
RCV001324044
RCV001315217
RCV001349471
RCV001350939
View all (46 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inflammatory skin and bowel disease, neonatal, 2 Pathogenic rs606231253 RCV000144851
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lip and oral cavity carcinoma Likely pathogenic rs1786518484 RCV001255641
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (84)
Phenotype Name Clinical Significance Source Reference Evidence Score
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic drug response ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE — GWAS catalog 35379992, 37198259, 37985413, 39023044
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (1326)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon Ablepharon BEFREE 30352949
★★★★★
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 16432850, 20547458, 21178801, 22222570
★★★★★
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma LHGDN 17964790, 18199957
★★★★★
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 15531726, 22105169, 26162929, 30033041, 31798535
★★★★★
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 20156290, 30144817
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 18664296
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 18664296
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 20207772, 20299678, 24019492, 24530706, 26163475, 29991287
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 14638913
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10686940
★★★★★
★☆☆☆☆
Found in Text Mining only