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
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
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
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
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
PF01030 Recep_L_domain 57 168 Receptor L domain Repeat
PF00757 Furin-like 177 338 Furin-like cysteine rich region Domain
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
99
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
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.
Phenotype Name Clinical Significance Source 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
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
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