Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1956
Gene name Gene Name - the full gene name approved by the HGNC.
Epidermal growth factor receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EGFR
Synonyms (NCBI Gene) Gene synonyms aliases
ERBB, ERBB1, ERRP, HER1, NISBD2, NNCIS, PIG61, mENA
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002289 hsa-miR-7-5p real-time RT-PCR, Reporter assay, Western 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 factor Regulation Reference
AR Activation 11556855;21613411
BCL3 Activation 17881446
BRCA1 Repression 21396117
CREBBP Unknown 21464950
EGR1 Activation 11830539
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
131550 3236 ENSG00000146648
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
lung adenocarcinoma Lung adenocarcinoma rs397517127, rs727504233, rs1554350382 N/A
Lung carcinoma non-small cell lung carcinoma rs121913428, rs397517116, rs1554350366, rs397517094, rs397517127, rs397517098, rs397517106, rs121913465, rs397517108, rs1584238193, rs397517111, rs397517112, rs397517086, rs397517114 N/A
neoplasm Neoplasm rs121913428, rs121913465 N/A
Cowden Syndrome Cowden syndrome 1 rs886037891 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Carcinoma Of The Head And Neck squamous cell carcinoma of the head and neck N/A N/A ClinVar
cerebral arteriovenous malformation Cerebral arteriovenous malformation N/A N/A ClinVar
Cholangiocarcinoma cholangiocarcinoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Type I Associate 19686285
Achalasia Addisonianism Alacrimia syndrome Associate 22431556
Acidemia isovaleric Associate 33533191
Acne Vulgaris Associate 34025636
Acquired ichthyosis Associate 24691054, 36303457
Acquired Immunodeficiency Syndrome Associate 21083371
Acrocephalosyndactylia Associate 33592873
Acrospiroma Associate 19252473
ACTH Secreting Pituitary Adenoma Associate 35563252
Acute Coronary Syndrome Associate 18664296