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Aliases for EGFR Gene

Aliases for EGFR Gene

  • Epidermal Growth Factor Receptor 2 3 5
  • Receptor Tyrosine-Protein Kinase ErbB-1 3 4
  • Erb-B2 Receptor Tyrosine Kinase 1 2 3
  • Proto-Oncogene C-ErbB-1 3 4
  • EC 2.7.10.1 4 63
  • ERBB1 3 4
  • ERBB 3 4
  • HER1 3 4
  • Epidermal Growth Factor Receptor (Avian Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog) 2
  • Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog (Avian) 2
  • Avian Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog 3
  • Cell Proliferation-Inducing Protein 61 3
  • Cell Growth Inhibiting Protein 40 3
  • EC 2.7.10 63
  • NISBD2 3
  • PIG61 3
  • MENA 3

External Ids for EGFR Gene

Previous HGNC Symbols for EGFR Gene

  • ERBB

Previous GeneCards Identifiers for EGFR Gene

  • GC07P054550
  • GC07P054794
  • GC07P054828
  • GC07P054860
  • GC07P055054

Summaries for EGFR Gene

Entrez Gene Summary for EGFR 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 growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. Multiple alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for EGFR Gene

EGFR (Epidermal Growth Factor Receptor) is a Protein Coding gene. Diseases associated with EGFR include inflammatory skin and bowel disease, neonatal, 2 and gliosarcoma. Among its related pathways are Signaling by GPCR and Alzheimers Disease Pathway. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is TYK2.

UniProtKB/Swiss-Prot for EGFR Gene

  • Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. Known ligands include EGF, TGFA/TGF-alpha, amphiregulin, 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.

  • Isoform 2 may act as an antagonist of EGF action.

Tocris Summary for EGFR Gene

  • The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase of the ErbB family. Four members of the ErbB family have been identified; EGFR (ErbB1, HER1), ErbB2 (HER2), ErbB3 (HER3) and ErbB4 (HER4). EGFR signaling drives many cellular responses.

Gene Wiki entry for EGFR Gene

PharmGKB "VIP" Summary for EGFR Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for EGFR Gene

Genomics for EGFR Gene

Regulatory Elements for EGFR Gene

Promoters for EGFR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EGFR on UCSC Golden Path with GeneCards custom track

Genomic Location for EGFR Gene

Chromosome:
7
Start:
55,019,021 bp from pter
End:
55,256,620 bp from pter
Size:
237,600 bases
Orientation:
Plus strand

Genomic View for EGFR Gene

Genes around EGFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGFR Gene

Proteins for EGFR Gene

  • Protein details for EGFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00533-EGFR_HUMAN
    Recommended name:
    Epidermal growth factor receptor
    Protein Accession:
    P00533
    Secondary Accessions:
    • O00688
    • O00732
    • P06268
    • Q14225
    • Q68GS5
    • Q92795
    • Q9BZS2
    • Q9GZX1
    • Q9H2C9
    • Q9H3C9
    • Q9UMD7
    • Q9UMD8
    • Q9UMG5

    Protein attributes for EGFR Gene

    Size:
    1210 amino acids
    Molecular mass:
    134277 Da
    Quaternary structure:
    • Binding of the ligand triggers homo- and/or heterodimerization of the receptor triggering its autophosphorylation. Heterodimer with ERBB2. Interacts with ERRFI1; inhibits dimerization of the kinase domain and autophosphorylation. Part of a complex with ERBB2 and either PIK3C2A or PIK3C2B. Interacts with GRB2; an adapter protein coupling the receptor to downstream signaling pathways. Interacts with GAB2; involved in signaling downstream of EGFR. Interacts with STAT3; mediates EGFR downstream signaling in cell proliferation. Interacts with RIPK1; involved in NF-kappa-B activation. Interacts (autophosphorylated) with CBL, CBLB and CBLC; involved in EGFR ubiquitination and regulation. Interacts with SOCS5; regulates EGFR degradation through TCEB1- and TCEB2-mediated ubiquitination and proteasomal degradation. Interacts with PRMT5; methylates EGFR and enhances interaction with PTPN6. Interacts (phosphorylated) with PTPN6; inhibits EGFR-dependent activation of MAPK/ERK. Interacts with COPG1; essential for regulation of EGF-dependent nuclear transport of EGFR by retrograde trafficking from the Golgi to the ER. Interacts with TNK2; this interaction is dependent on EGF stimulation and kinase activity of EGFR. Interacts with PCNA; positively regulates PCNA. Interacts with PELP1. Interacts with MUC1. Interacts with AP2M1. Interacts with FER. May interact with EPS8; mediates EPS8 phosphorylation. Interacts (via SH2 domains) with GRB2, NCK1 and NCK2. Interacts with ATX2. Interacts with GAREM1. Interacts (ubiquitinated) with ANKRD13A/B/D; the interaction is direct and may regulate EGFR internalization after EGF stimulation. Interacts with GPER1; the interaction occurs in an estrogen-dependent manner. Interacts (via C-terminal cytoplasmic kinase domain) with ZPR1 (via zinc fingers). Interacts with RNF115 and RNF126. Interacts with GPRC5A (via its transmembrane domain)(PubMed:25311788). Interacts with FAM83B; positively regulates EGFR inducing its autophospharylation in absence of stimulation by EGF (PubMed:23912460).

    Three dimensional structures from OCA and Proteopedia for EGFR Gene

    Alternative splice isoforms for EGFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGFR Gene

Proteomics data for EGFR Gene at MOPED

Post-translational modifications for EGFR Gene

  • Methylated. Methylation at Arg-1199 by PRMT5 stimulates phosphorylation at Tyr-1197.
  • Monoubiquitinated and polyubiquitinated upon EGF stimulation; which does not affect tyrosine kinase activity or signaling capacity but may play a role in lysosomal targeting. Polyubiquitin linkage is mainly through Lys-63, but linkage through Lys-48, Lys-11 and Lys-29 also occurs. Deubiquitination by OTUD7B prevents degradation. Ubiquitinated by RNF115 and RNF126 (By similarity).
  • Phosphorylation at Ser-695 is partial and occurs only if Thr-693 is phosphorylated. Phosphorylation at Thr-678 and Thr-693 by PRKD1 inhibits EGF-induced MAPK8/JNK1 activation. Dephosphorylation by PTPRJ prevents endocytosis and stabilizes the receptor at the plasma membrane. Autophosphorylation at Tyr-1197 is stimulated by methylation at Arg-1199 and enhances interaction with PTPN6. Autophosphorylation at Tyr-1092 and/or Tyr-1110 recruits STAT3. Dephosphorylated by PTPN1 and PTPN2.
  • Ubiquitination at Lys 716, Lys 737, Lys 754, Lys 860, Lys 867, Lys 929, and Lys 970
  • Glycosylation at Asn 56, Asn 73, Asn 128, Asn 175, Asn 196, Asn 352, Asn 361, Asn 413, Asn 444, Asn 528, Asn 568, Asn 603, and Asn 623
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EGFR (EGFR)

Protein Products

Assay Products

  • Cloud-Clone Corp Assay Kits for EGFR

Domains & Families for EGFR Gene

Graphical View of Domain Structure for InterPro Entry

P00533

UniProtKB/Swiss-Prot:

EGFR_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
genes like me logo Genes that share domains with EGFR: view

Function for EGFR Gene

Molecular function for EGFR Gene

GENATLAS Biochemistry:
epidermal growth factor receptor,also binding transforming growth factor alpha (TGFA),involved in early craniofacial development and palate closure,phosphorylating GJB1,amplified in prostate carcinoma and in astrocytomas,deleted in glioblastomas and mutated in malignant oral keratinocytes
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Endocytosis and inhibition of the activated EGFR by phosphatases like PTPRJ and PTPRK constitute immediate regulatory mechanisms. Upon EGF-binding phosphorylates EPS15 that regulates EGFR endocytosis and activity. Moreover, inducible feedback inhibitors including LRIG1, SOCS4, SOCS5 and ERRFI1 constitute alternative regulatory mechanisms for the EGFR signaling.
UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. Known ligands include EGF, TGFA/TGF-alpha, amphiregulin, 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.
UniProtKB/Swiss-Prot Function:
Isoform 2 may act as an antagonist of EGF action.

Enzyme Numbers (IUBMB) for EGFR Gene

Gene Ontology (GO) - Molecular Function for EGFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS 16076471
GO:0004716 receptor signaling protein tyrosine kinase activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 23418353
GO:0051015 actin filament binding IDA 14702346
genes like me logo Genes that share ontologies with EGFR: view

Phenotypes for EGFR Gene

GenomeRNAi human phenotypes for EGFR:
MGI mutant phenotypes for EGFR:
inferred from 15 alleles
genes like me logo Genes that share phenotypes with EGFR: view

Human Phenotype Ontology for EGFR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EGFR Gene

MGI Knock Outs for EGFR:

Animal Model Products

  • Taconic Biosciences Mouse Models for EGFR

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EGFR Gene

Localization for EGFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGFR Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Nucleus membrane; Single-pass type I membrane protein. Endosome. Endosome membrane. Nucleus. Note=In response to EGF, translocated from the cell membrane to the nucleus via Golgi and ER. Endocytosed upon activation by ligand. Colocalized with GPER1 in the nucleus of estrogen agonist-induced cancer-associated fibroblasts (CAF).
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EGFR Gene COMPARTMENTS Subcellular localization image for EGFR gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
cytosol 4
cytoskeleton 3
lysosome 3
vacuole 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for EGFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 14702346
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA,IDA 12435727
GO:0016323 basolateral plasma membrane IEA,IDA 12646923
GO:0031901 early endosome membrane IDA 17714434
genes like me logo Genes that share ontologies with EGFR: view

Pathways & Interactions for EGFR Gene

SuperPathways for EGFR Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K events in ERBB4 signaling
4 Signaling by ERBB2
5 GPCR Pathway
genes like me logo Genes that share pathways with EGFR: view

Pathways by source for EGFR Gene

Interacting Proteins for EGFR Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000275493%0d%0a9606.ENSP00000244007%0d%0a9606.ENSP00000265171%0d%0a9606.ENSP00000269571%0d%0a9606.ENSP00000264033%0d%0a9606.ENSP00000264122%0d%0a
Selected Interacting proteins: P00533-EGFR_HUMAN ENSP00000275493 for EGFR Gene via MINT I2D UniProtKB STRING

Symbol External ID(s) Details
GRB2
SHC1
CBL
EGF
ABL2

Gene Ontology (GO) - Biological Process for EGFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 20551055
GO:0001942 hair follicle development IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006898 receptor-mediated endocytosis IDA --
GO:0006950 response to stress NAS 12828935
genes like me logo Genes that share ontologies with EGFR: view

Drugs & Compounds for EGFR Gene

(268) Drugs for EGFR Gene - From: DGIdb, Novoseek, IUPHAR, ClinicalTrials, ApexBio, HMDB, DrugBank, PharmGKB, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lapatinib Approved March 2007, Investigational Pharma Inhibition, inhibitor, Biomarker, Target, antagonist EGFR/HER2 inhibitor,potent,selective and reversible, HER2 and EGFR kinase inhibitor, HER2 Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 294
Gefitinib Approved, Investigational Pharma Biomarker, inhibitor, Target, antagonist EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 330
Cetuximab Approved Pharma Antibody, Biomarker, inhibitor, Target, antagonist EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 713
Erlotinib Approved, Investigational Pharma Inhibition, inhibitor, Biomarker, Target, antagonist EGFR inhibitor, EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0
Panitumumab Approved, Investigational Pharma inhibitor, Biomarker, antibody, Target, suppressor EGFR inhibitor, EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 0

(56) Additional Compounds for EGFR Gene - From: HMDB, Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AG 99
122520-85-8
TGFalpha
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
AG 18
118409-57-7
AG 490
133550-30-8
genes like me logo Genes that share compounds with EGFR: view

Drug Products

Transcripts for EGFR Gene

Unigene Clusters for EGFR Gene

Epidermal growth factor receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EGFR Gene

No ASD Table

Relevant External Links for EGFR Gene

GeneLoc Exon Structure for
EGFR
ECgene alternative splicing isoforms for
EGFR

Expression for EGFR Gene

mRNA expression in normal human tissues for EGFR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EGFR Gene

This gene is overexpressed in Breast (39.8) and Nasal epithelium (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EGFR Gene



SOURCE GeneReport for Unigene cluster for EGFR Gene Hs.488293

mRNA Expression by UniProt/SwissProt for EGFR Gene

P00533-EGFR_HUMAN
Tissue specificity: Ubiquitously expressed. Isoform 2 is also expressed in ovarian cancers.
genes like me logo Genes that share expression patterns with EGFR: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for EGFR Gene

Orthologs for EGFR Gene

This gene was present in the common ancestor of animals.

Orthologs for EGFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EGFR 36
  • 100 (a)
OneToOne
EGFR 35
  • 99.26 (n)
  • 99.67 (a)
cow
(Bos Taurus)
Mammalia EGFR 36
  • 88 (a)
OneToOne
EGFR 35
  • 85.62 (n)
  • 87.83 (a)
dog
(Canis familiaris)
Mammalia EGFR 35
  • 87.29 (n)
  • 91.68 (a)
EGFR 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Egfr 16
Egfr 35
  • 85.13 (n)
  • 90.65 (a)
Egfr 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EGFR 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGFR 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egfr 35
  • 84.88 (n)
  • 90.56 (a)
chicken
(Gallus gallus)
Aves EGFR 35
  • 73.92 (n)
  • 78.48 (a)
EGFR 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EGFR 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egfr 35
  • 65.85 (n)
  • 68.05 (a)
zebrafish
(Danio rerio)
Actinopterygii EGFR (2 of 5) 36
  • 50 (a)
OneToMany
EGFR (3 of 5) 36
  • 89 (a)
OneToMany
EGFR (4 of 5) 36
  • 53 (a)
OneToMany
EGFR (5 of 5) 36
  • 39 (a)
OneToMany
egfra 36
  • 61 (a)
OneToMany
egfr 35
egfra 35
  • 64.59 (n)
  • 64.85 (a)
fruit fly
(Drosophila melanogaster)
Insecta Egfr 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea let-23 37
  • 29 (a)
Species with no ortholog for EGFR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EGFR Gene

ENSEMBL:
Gene Tree for EGFR (if available)
TreeFam:
Gene Tree for EGFR (if available)

Paralogs for EGFR Gene

Paralogs for EGFR Gene

genes like me logo Genes that share paralogs with EGFR: view

Variants for EGFR Gene

Sequence variations from dbSNP and Humsavar for EGFR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs884225 -- 55,206,391(-) GGGGC(A/G)GCATA utr-variant-3-prime
rs884904 -- 55,207,789(+) CAGGG(A/G)GATTT downstream-variant-500B
rs723526 -- 55,067,126(+) GGCGC(A/G)GTTTC intron-variant
rs723527 -- 55,067,179(+) GCAAA(A/G)GTCAG intron-variant
rs759158 -- 55,111,516(+) AGGGG(G/T)TTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EGFR Gene

Variant ID Type Subtype PubMed ID
esv2734425 CNV Deletion 23290073
nsv888055 CNV Loss 21882294
nsv5752 CNV Loss 18451855
nsv528853 CNV Loss 19592680
nsv5753 CNV Insertion 18451855
esv22171 CNV Loss 19812545
esv2660266 CNV Deletion 23128226
nsv888057 CNV Loss 21882294
nsv515544 CNV Loss 19592680
nsv888058 CNV Loss 21882294
nsv888059 CNV Loss 21882294
esv26220 CNV Loss 19812545
dgv1133e201 CNV Deletion 23290073
esv5645 CNV Loss 19470904
esv2734437 CNV Deletion 23290073
esv2734440 CNV Deletion 23290073
nsv366872 CNV Loss 16902084
esv2734441 CNV Deletion 23290073
esv2590945 CNV Insertion 19546169

Variation tolerance for EGFR Gene

Residual Variation Intolerance Score: 2.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.39; 42.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EGFR Gene

HapMap Linkage Disequilibrium report
EGFR
Human Gene Mutation Database (HGMD)
EGFR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGFR Gene

Disorders for EGFR Gene

MalaCards: The human disease database

(160) MalaCards diseases for EGFR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
inflammatory skin and bowel disease, neonatal, 2
  • nisbd2
gliosarcoma
  • glioblastoma with sarcomatous component
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
lung cancer
  • lung cancer, protection against
lung cancer, egfr-related
- elite association - COSMIC cancer census association via MalaCards
Search EGFR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EGFR_HUMAN
  • Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO:0000269 PubMed:15118125, ECO:0000269 PubMed:16533793, ECO:0000269 PubMed:16672372}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Inflammatory skin and bowel disease, neonatal, 2 (NISBD2) [MIM:616069]: A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. {ECO:0000269 PubMed:24691054}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for EGFR Gene

glioblastoma,multiform (amplification of deleted/rearranged EGFR)

Relevant External Links for EGFR

Genetic Association Database (GAD)
EGFR
Human Genome Epidemiology (HuGE) Navigator
EGFR
Tumor Gene Database (TGDB):
EGFR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EGFR
genes like me logo Genes that share disorders with EGFR: view

Publications for EGFR Gene

  1. Molecular changes of epidermal growth factor receptor (EGFR) and KRAS and their impact on the clinical outcomes in surgically resected adenocarcinoma of the lung. (PMID: 17904685) Kim Y.T. … Kim J.H. (Lung Cancer 2008) 3 23 48 67
  2. Lapatinib: a small-molecule inhibitor of epidermal growth factor receptor and human epidermal growth factor receptor-2 tyrosine kinases used in the treatment of breast cancer. (PMID: 20110044) Tevaarwerk A.J. … Kolesar J.M. (Clin Ther 2009) 23 25 26
  3. Lapatinib: a dual inhibitor of human epidermal growth factor receptor tyrosine kinases. (PMID: 18803986) Medina P.J. … Goodin S. (Clin Ther 2008) 23 25 26
  4. Lapatinib: a novel EGFR/HER2 tyrosine kinase inhibitor for cancer. (PMID: 16894399) Johnston S.R. … Leary A. (Drugs Today 2006) 23 25 26
  5. Truncated ErbB2 receptor (p95ErbB2) is regulated by heregulin through heterodimer formation with ErbB3 yet remains sensitive to the dual EGFR/ErbB2 kinase inhibitor GW572016. (PMID: 14737100) Xia W. … Spector N.L. (Oncogene 2004) 23 25 26

Products for EGFR Gene

  • Addgene plasmids for EGFR

Sources for EGFR Gene