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EGFR (Epidermal Growth Factor Receptor)

Written2019-12Ayca Circir Hatil, Esra Cicek, Merve Oyken, A.Elif Erson-Bensan
Department of Biological Sciences, Middle East Technical University, Ankara/TURKEY, cayca@metu.edu.tr; esyavuz@metu.edu.tr; oyken.merve@metu.edu.tr; erson@metu.edu.tr

Abstract ERBB family member epidermal receptor tyrosine kinase (EGFR) is composed of 28 exons and 27 introns. EGFR codes for 11 transcripts and 8 of them are protein coding. EGFR is a transmembrane glycoprotein that can be activated by several different ligands such as epidermal growth factor (EGF), transforming growth factor-alpha (TGFA), heparin-binding EGF-like growth factor (HBEGF), betacellulin (BTC), amphiregulin (AREG), epiregulin (EREG), and epigen (EPGN) (Singh, 2016). Ligand binding induces the dimerization of EGFR and autophosphorylation followed by a cascade of downstream phosphorylation events (Capuani et al., 2015). EGFR activation plays a key role in cell survival, proliferation, migration and differentiation (Purba, 2017).

Keywords Epidermal Growth Factor Receptor (EGFR), transmembrane receptor tyrosine kinase

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)ERBB (erb-b2 receptor tyrosin kinase)
HER1 (human epidermal growth factor receptor 1)
mENA
ERBB1 (erb-b2 receptor tyrosin kinase 1)
PIG61
NISBD2 (neonatal inflammatory skin and bowel disease-2),
Erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
HGNC (Hugo) EGFR
HGNC Alias symbERBB1
HGNC Alias nameerythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
 erb-b2 receptor tyrosine kinase 1
HGNC Previous nameERBB
HGNC Previous nameepidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)
LocusID (NCBI) 1956
Atlas_Id 147
Location 7p11.2  [Link to chromosome band 7p11]
Location_base_pair Starts at 55019017 and ends at 55171037 bp from pter ( according to hg19-Feb_2009)  [Mapping EGFR.png]
Local_order Arrangement of genes on chromosome 7 from centromere to telomere: LOC100996654, LOC643168, LOC105375284, EGFR, EGFR-AS1, LOC100130121, ELDR, CALM1P2
 
  Figure 1. Local order of EGFR is shown together with proximal and distal genes on chromosome 7. The direction of arrows indicates transcriptional direction on the chromosome and arrow sizes approximate gene sizes.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

 
  Figure 2. EGFR structural variants. EGFR has 11 structural variants with different exon and intron numbers as stated: 1 EGFR-201: 9905 bp, 1210 aa, 28 exons, transcript type: protein coding; 2 EGFR-207: 3844bp, 1091 aa, 26 exons, transcript type: protein coding; 3 EGFR-206: 5464bp, 1165 aa, 27 exons, transcript type: protein coding; 4 EGFR-202: 2239 bp, 628 aa, 16 exons, transcript type: protein coding; 5 EGFR-203: 2864 bp, 705 aa, 16 exons, transcript type: protein coding; 6 EGFR-204: 1570 bp, 405 aa, 10 exons, transcript type: protein coding; 7 EGFR-208: 452 bp, 2 exons, transcript type: lncRNA; 8 EGFR-209: 561 bp, 2 exons, transcript type: lncRNA; 9 EGFR-205: 691 bp, 128 aa, 4 exons, transcript type: protein coding; 10 EGFR-211: 4735 bp, 464 aa, 24 exons, transcript type: protein coding; 11 EGFR-210: 665 bp, 3 exons, transcript type: retained intron
Description EGFR gene is 244589 bp long and resides on the positive strand of DNA
Transcription EGFR gene codes for 11 transcripts which are splice variants; 8 of them are protein coding (9905 bp, 3844 bp, 5464 bp, 2239 bp, 2864 bp, 1570 bp, 4735 bp and 691 bp) and 3 of them are non-protein coding (561 bp, 452 bp and 665 bp)
Pseudogene Not-reported

Protein

 
  Figure 3. Isoform 1 (p170) is the canonical sequence of EGFR. The EGFR protein is 1,210 aa long and 134,277 Da.
Description EGFR protein has four isoforms which are results of alternative splicing. Isoform 1 is the canonical one depicted above. Other isoforms are isoform 2 (p60, 405 aa, 44,664 Da), isoform 3 (p110, 705 aa, 77,312 Da) and isoform 4 (628 aa, 69,228 Da).
Localisation Plasma membrane, Endosome, Endoplasmic Reticulum, Golgi apparatus, Nucleus
Function EGFR is transmembrane receptor tyrosine kinase belonging to a cell surface receptor family. Other family members are HER2 ( ERBB2), HER3 ( ERBB3) and HER4 ( ERBB4). Orthologs of EGFR in Drosophila melanogaster and Caenorhabditis elegans are DER (Lusk, 2017) and Let-23 (Bae, 2012), respectively. These monomeric proteins have intracellular C-terminal tyrosine kinase domain, membrane spanning domain and extracellular, cysteine rich N-terminal ligand binding domain from bottom to top of its structure. Without ligand binding, EGFR is in its monomeric form, once the ligand is bound, they form either homodimer or heterodimer resulting in autophosphorylation of their C-terminal domain (Ferguson, 2008).
In canonical EGFR signaling pathway, activation with ligand binding is a well characterized function of EGFR. With ligand binding, trans-autophosphorylation takes place between on tyrosine residues, which triggers the downstream signaling cascades (Maruyama, 2014). Conformational changes of C-terminal tail also trigger the components of endocytosis pathway and leads to EGFR internalization. EGFR, without ligand, can also be endocytosed with a rate 10-fold lower than the ligand induced ones (Sigismund, 2018).
When EGFR is induced with ligand binding on plasma membrane, it is not only phosphorylated, but also ubiquitinated at lysine residues on the cytoplasmic kinase domain by E3 ubiquitin ligase Cbl complex including GRB2 adaptor protein. Concentration of EGF is the regulator of EGFR ubiquitination. At the beginning of internalization of EGFR, ubiquitination drives the non-clathrin endocytosis pathway, at later stages it steers EGFR to lysosomal degradation (Sigismund, 2013 and Sigismund, 2005).
Fate of EGFR depends also on the type of ligand. After internalization, some of its ligands, like TGFA and EREG (epiregulin), dissociates from EGFR in the milder acidic environment of endosome and drives recycling of EGFR to plasma membrane. In contrast, ligands (like EGF) which are not affected from the acidity of endosome, favors the passage of majority of EGFR from early to late endosomes to be degraded by the lysosome (Ebner, 1991). Additionally, HBEGF (heparin-binding EGF-like growth factor) and BTC (betacellulin) drives all EGF receptors to lysosomal degradation (Sigismund, 2018; Roepstorff et al., 2009; Ebner and Derync, 1991).
Ligand induced EGFR activation in turn activates downstream signaling pathways, named as, RAS/MAPK pathway, PI3K/AKT pathway and PLC/Protein kinase C cascade. Activation of these pathways with canonical EGFR signaling controls the crucial functions of cells such as survival, proliferation, differentiation and migration (Scaltriti and Baselga, 2006). In addition, activation of EGFR regulates other important metabolic functions such as autophagy in response to cellular or environmental stress via non-canonical signaling. Dealing with stress conditions with the action of non-canonical EGFR signal is preferred in cancer cells to provide advantage for survival and drug resistance (Tan et al., 2015; Henson, Chen and Gibson, 2017).
EGFR is expressed in many organs is involved in diverse roles including proliferation (Buchon et al., 2010), survival (Crossman, Streichan and Vincent, 2018), embryogenesis (Lusk, Lam and Tolwinski, 2017) differentiation during development and maintenance of cellular physiology (Dumstrei et al., 1998).
During lung development, EGFR is critical in type II pneumocyte maturity. Inhibition of EGFR gives rise to immature type II pneumocytes and alveolar deficiency (Inamura, 2018; Kothe et al., 2018)
In heart development, EGFR takes role in differentiation of cardiac valves (Barrick et al., 2009; Qi, 2015)
Surviving mice among the EGFR deficient group showed valvular deficiency and further survived mice experienced aortic valve thickening, aortic stenosis and heart deficit (Makki et al., 2013)
Expression of EGFR also correlates with the level of neurogenesis in rodents and EGFR activity controls the proliferation and survival of neuronal cells and their proper migration (Puehringer et al., 2014). Moreover, EGFR mutant mice showed substantial neurodegenerative damage in the frontal cortex, olfactory bulb, thalamus and irregular migration in mutant mice brains (Sibilia et al., 1998)
EGFR null mice have abnormal primary endochondral ossification and malformation of osteoclasts (Wang et al., 2009).
EGFR-/- mice models show massive abnormality in epithelial development in which newborns had open eyes, whiskers were curly, and they died within 8 days after birth due to the epithelial disorder in skin, lung and gastrointestinal tract (Miettinen et al., 1995).
EGFR is expressed normally in the outer sheath of the root and its expression decreases when follicular growth is completed. Impaired downregulation of EGFR in hair growth arrest the hair growing cycle at anagen phase and prevent beginning of catagen phase (Mak and Chan, 2003). The importance of EGFR signaling in fur development and maintenance of hair follicle integrity and differentiation were shown in EGFR null mice models. Deregulation of keratin synthesis, dysregulated differentiation of follicle bulb, cuticle disorder and improper integration of hair fibers were observed in EGFR null mice (Hansen et al., 1997)
EGFR signaling and its downstream pathways are also important in skin homeostasis. Activation of EGFR-ERK pathway has a critical role in healing of skin damages, while EGFR-PI3K/AKT pathway is critical to inhibits initiation of apoptosis under UV stress (Peus et al., 2000). Additionally, for keratinocyte migration during healing of skin wounds, necessary amount of collagenase-1 production is provided by the activation of EGFR by autocrine manner (Pilcher et al., 1999). In case of skin lesion, released cytokines from leukocytes activates keratinocytes, which in turn release several chemokines like CXCLs, and ILs. EGFR is responsible from the regulation of chemokine release from keratinocytes, which sets a crosstalk between skin inflammation and EGFR signaling (Pastore et al., 2008).
Even though the mechanism of transport of EGFR to nucleus is still not clear, EGFR also functions in nucleus as transcriptional co-activator of cell cycle related genes like CCND1 (cyclin D1) and MYC. Additionally; EGFR nuclear signaling is stimulated by EGF and stress factors like H2O2, UV, ionizing radiation and drugs (Wee and Wang, 2017).
Homology Human EGFR has homologs in chimpanzee (Pan troglodytes), Rhesus monkey (Macaca mulatta), dog (Canis lupus familiaris), cattle (Bos taurus), mouse (Mus musculus), rat (Rattus norvegicus), chicken (Gallus gallus), zebrafish (Danio rerio) and frog (Xenopus tropicalis). Human EGFR has orthologs with 259 organisms.

Mutations

Somatic According to current information in cbioportal database, somatic mutation frequency is 3.8% in 10967 samples obtained from 10953 patients.
Distribution of totally 512 mutations: 412 missense mutations, 42 truncating mutations (including nonsense, nonstop, frameshift deletion, frameshift insertion, splice site mutations), 33 in-frame mutations (in-frame deletions and in-frame insertions) and 30 other mutations.
Non-small cell lung cancer (NSCLC): Very common (85-90%) and classical mutations frequently seen in NSCLC are L858R point mutation in exon 21 and residual deletions of exon 19. Additionally, insertions in exon 20 is related with the resistance against therapeutic EGFR inhibitors like Afatinib, Erlotinib and Gefitinib. H773-V774insX, D770-N771insX and V769-D770insX are the insertions of exon 20 with higher incidence (Vyse and Huang, 2019). T790M point mutation on tyrosine kinase domain of EGFR is accepted as a drug resistance marker of NSCLC and this mutation typically coexist with L858R mutation (Denis et al., 2015; Li et al., 2018). In general, substitution in leucine to arginine at position 858 in tyrosine kinase domain of EGFR is well known activating mutation. With this mutation, autoinhibitory conformation of EGFR is suppressed and the receptor becomes active even without ligand binding (Wee and Wang, 2017).
Glioblastoma (GBM): Point mutations of EGFR are common in GBM. Deletions observed in GBM are N-terminal deletion of EGFR (EGFRvI), exon 14-15 deletion (EGFRvII that is oncogenic), exon 2-4 deletion (EGFRvII, which is oncogenic), exon 25-27 deletion (EGFRvIV), exon 25-28 deletion (EGFRvV). R108K, A289V, A289D, A289T and G598D are point mutations in EGFR seen in 24% of GBM cases (Larysz, 2011; An et al., 2018).
Breast cancer: 11.4% of 70 paraffin tumor samples randomly selected from among 653 triple negative breast cancer (TNBC) patients showed EGFR mutations. These mutations were deletions in exon 19, missense substitutions of exon 21 and inversions in EGFR sequence (Teng et al., 2011). Another study showed 28.3% of 180 patients had EGFR mutations. Thirty patients had exon 19 deletions, 21 of them showed exon 21 mutations (Ma et al., 2017). Additionally, 50% of TNBC cases were characterized by EGFR overexpression, which is correlated with poor prognosis, less differentiation and increased tumor size. Percentage of EGFR overexpression in TNBC is quite high when compared to other subtypes of breast cancer (Masuda et al., 2012).
Esophageal cancer: Although it is rare, G to A substitution was observed in esophageal cancer. 40-70% of esophageal squamous cell carcinoma shows overexpression and increased gene copy number of EGFR (Anvari, Anvari and Toosi, 2014)
Head and Neck squamous cell carcinoma (HNSCC): Among 47 HNSCC cases, 21% of EGFR mutations is L861Q point mutation in exon 21, 19% of them is insertion in exon 20 and 17% of them included exon 19 deletions (Vatte et al., 2017). Additionally, with 41.5, exon 19 had the highest percentage of tyrosine kinase domain (TKD) mutations. 32.1 %, 17 % and 9.4 % are distribution of TKD mutations in exon 20, exon 21 and exon 18, respectively. Among all EGFR mutations, 73% of them was exon 18-21 missense mutations, 22% was exon 19 deletions and 5% was exon 20 insertion mutations (Perisanidis, 2017)
Gastric cancer: Exon 19 and exon 21 EGFR mutations were identified in gastric cancer in addition to single nucleotide polymorphisms Q787Q (37.9%). In addition, Y801C, L858R and G863D point mutations were revealed for the first time in gastric cancer samples (Liu et al., 2011).
Endometrial cancer: Samples taken from 28 woman with endometrial cancer showed three different mutations in separate patients. L688F and E690K were in exon 18 and K754E in exon 19, which is in contrast to others responsive to lapatinib treatment (Leslie et al., 2013; Reyes et al., 2014)
Colorectal cancer: EGFR mutation status of 13 patients among 35 male and 23 female patients at different stages of colorectal cancer showed exon 20 mutation but not exons 18,19 and 21 mutations (Oh et al., 2011). S492R EGFR ectodomain mutation also increases the mutation rate and mABCH12 was suggested to prevent the effect of mutated EGFR (Dong et al., 2019).
Prostate cancer: Studies revealed the overexpression, amplification and mutation of EGFR in prostate cancer (Guerin et al., 2010).
Testicular cancer: From 110 testicular germ cell tumors 209 distinct components were obtained and analyzed for EGFR expression. Among those components, 28% of 83 seminomas, 11% of 27 embryonal carcinomas, 88% of 8 choriocarcinomas and 44% of 18 yolk sac tumors showed EGFR overexpression. Additionally, among them, some of the samples showed amplification and high copy number of EGFR, which is also in correlation with overexpression of EGFR according to IHC studies (Miyai et al., 2010).

Implicated in

  
Entity Non-Small Cell Lung Cancer
Disease Approximately 70% of lung cancers is non-small cell lung cancer (NSCLC) and 43-89% of NSCLC is caused by EGFR overexpression. Other mutations are short in frame deletions in exon 19 which includes leucine-747 to glutamic acid-749 (ΔLRE) deletion or point mutations in exon 21 (L858R). These two mutations constitute around 90% of EGFR activating mutations and lead to cell proliferation, anti-apoptotic signaling by constitutively activating the downstream signaling pathways (Bethune et al., 2010). Bases insertions to exon 20 of EGFR is related with de novo resistance against EGFR inhibitors and poor patient prognosis (Vyse and Huang, 2019). Additionally, point mutation at exon 20; threonine to methionine transition (T790M) is strongly linked to acquired resistance especially against very commonly used EGFR inhibitors, namely, erlotinib and gefitinib (Gazdar, 2009). Higher methylation pattern at promoter region of EGFR is related with insensitivity against EGFR targeted treatments in NSCLC with low expression of EGFR (Pan, 2015). Moreover, higher DNA methylation level of EGFR indicates the stage of malignancy in these patients (Li, 2015)
  
  
Entity Breast Cancer
Disease In triple negative breast cancer (TNBC), EGFR is frequently overexpressed and EGFR inhibition in these patients is mostly ineffective. EGFR methylation by PRMT1 at arginine 198/200 of extracellular domain is related to resistance to EGFR monoclonal antibody therapies (Nakai et al., 2018). CAMA1, MDA-MB-453 and MDA-MB-435 were also shown to be methylated at EGFR CpG island in exon 1 as a reason for transcriptional downregulation of EGFR (Montero et al., 2006).
  
  
Entity Head and Neck Cancer
Disease Mono methylation of lysine 721 in the tyrosine kinase domain of EGFR by NSD3 (WHSC1L1) results in enhanced downstream signaling (ERK) in the squamous cell carcinoma of head and neck cells even in the absence of EGF (Saloura et al., 2017)
  
  
Entity Cutaneous Melanoma
Disease EGFR promoter and regulatory elements hypomethylation increases EGFR expression and enhances PI3K/AKT pathway in cutaneous melanoma. Activation of PI3K/AKT pathway leads to BRAF inhibitor resistance (Wang et al., 2015).
  
  
Entity Glioma
Disease In gliomas and development of neurons, H3K27ac and H3K4me3 were found at promoter region of EGFR. Additionally, during development of germinal matrix, both EGFR-positive and EGFR-negative germinal matrix cells show DNA hypomethylation at promoter region but H3K27ac and H2K4me3 marks the EGFR-expressing, activated germinal matrix cells (Erfani et al., 2015).
  
  
Entity Prostate Cancer
Disease 18% of tissue samples obtained from 2497 prostate tumors showed DNA level amplification or overexpression at protein level. high EGFR levels correlate with grade and stages of prostate cancer (Guerin et al., 2010). Interestingly, in prostate cancer patients, EGFR was detected in secreted exosomes, also in serum of mouse models, and these secreted exosomes could be related with the resistance against EGFR targeted therapies (Kharmate et al., 2016).
  
  
Entity Gastric Cancer
Disease Analysis of 683 T3 stage gastric adenocarcinoma samples revealed that low EGFR expressing 406 patients showed longer overall (39 months) and recurrence free (37 months) survival time while patients having high EGFR expression experienced distant metastasis with decreased overall and recurrence free survival times, 18 and 13 months respectively. Including anti-EGFR agents in combination with chemotherapy in esophago-gastric adenocarcinoma provided no advantage in terms of overall and relapse-free survival of patients (from meta-analysis of 1817 patients of six studies) (Kim et al., 2017; Wang et al., 2017).
Hypermethylation of EGFR promoter region in analyzed tumor samples indicates the possible use of this methylation status as a maker for gastric cancer (Weng et al., 2015).
  
  
Entity Alzheimer's Disease
Disease Analysis of Genome wide linkage (GWL), genome-wide associations (GWA) and genome-wide expression (GWE) datasets for Alzheimer's disease (AD) revealed EGFR to be a significant AD specific biomarker. Dataset analysis revealed 108 AD related genes including EGFR and ACTB. Since, these two biochemical markers were found overlapping with proteins of cerebrospinal fluid and plasma proteins, they were characterized as the most significant risk genes in AD (Talwar et al., 2014).
Mutations in Presenilin (PS) proteins PSEN1 and PSEN2 cause dramatic severity in early-onset of AD. PSEN1 controls the cell-specific transcription of EGFR in neural cells. PSEN1 null (PS1(-/-)) cortical neurons showed decreased level of EGFR related survival signaling, until exogenous EGFR rescues the signaling phenotype. Interestingly, while overexpression of PSEN1 upregulates the transcriptional level of EGFR, downregulation of it reduces the EGFR mRNA level (Bruban et al., 2015).
EGFR has critical role in APBA2 (amyloid β42) induced memory loss in AD. Studies on APP /PSEN1 double transgenic mice had high levels of active EGFR level. Inhibition of EGFR activity reversed the action of APP/PSEN1 related impairment of memory in mice. Similarly, in fruit flies, upregulation of EGFR elevated the memory loss while pharmaceutical inhibition of EGFR rescued memory loss in Aβ42 expressing fruit flies (Wang et al., 2012).
Immuneperoxidase staining showed higher level of EGFR immune reactivity in both pathologically confirmed AD brain samples and in normal aging brain samples with neuritic plaques (Birecree et al., 1988).
  
  
Entity Rapidly Progressive Glomerulonephritis (RPGN)
Disease EGFR pathway is implicated in RPGN and other glomerular diseases. RPGN is mainly characterized by proliferation of epithelial cells and inflammatory cell infiltration (Harskamp et al., 2016). HBEGF (Heparin Binding EGF) is increased in RPGN and other glomerular diseases such as puromycin-aminonucleoside-induced focal segmental glomerulosclerosis and membranous nephropathy (passive Heymann nephritis) (Paizis et al., 1999). there is de novo expression of heparin-binding epidermal growth factor-like growth factor (HBEGF) in glomerular epithelial cells specifically in human glomerulonephritis (Flamant et al., 2012).
  
  
Entity Diabetic Nephropathy
Disease Phosphorylated EGFR and EGF upregulation were shown in high glucose treated renal cells (Saad et al., 2005). Activation of EGFR causes upregulation of SGK1 (serum glucocorticoid-regulated kinase1), which is important in regulating ion transport protein ENaC, important in sodium reabsorption (Saad et al., 2005). Also, Ang II mediated EGFR transactivation regulates gene expression of glucose transporter 1 (Nose et al., 2003). Finally, EGFR activation in diabetic animals, mediates deviated activation of TGFB1 (Uttarwar et al., 2011).
  
  
Entity Chronic Allograft Nephropathy
Disease Increased levels of renal EGF and EGFR was shown in rats and EGFR expression was demonstrated in human renal allograft biopsy samples (Sis et al., 2004). Erlotinib (a tyrosine kinase inhibitor) prevent chronic allograft rejection (Rintala et al., 2014).
  
  
Entity Polycystic Kidney Disease
Disease EGFR expression is increased in PKD and EGFR activation via its ligands (EGF, TGFA, HBEGF and AREG26) leads to cyst formation (Harskamp et al., 2016). Cellular localization alteration of EGFR is also found in PKD. Normally, EGFR is localized on the basolateral membrane of tubular cells, but in PKD, receptor is found on the apical surface of the cyst epithelium (Du and Wilson, 1995).
  
  
Entity Kidney Fibrosis
Disease Ang II-induced renal fibrosis is associated with EGFR pathway. EGFR inhibition attenuates renal fibrosis and kidney dysfunction in Ang II infused mouse models, indicating that EGFR may be a therapeutic target in chronic renal diseases (Qian et al., 2016).
  
  
Entity Hypertension
Disease Kidney is known to express four members of ErbB receptor family (Staruschenko et al.,2013). EGFR pathway may regulate sodium transport and development of hypertension because EGFR pathway determines renal lesions and regulates sodium reabsorption in collecting ducts (Staruschenko et al., 2013).
  
  
Entity Congenital Hydronephrosis
Disease Children with pelviureteral junction obstruction (PUJO) had a significant increase in TGF-β1 and decrease in EGF expression which may play a role in the development of obstructive nephropathy (Yang et al.., 2006).
  

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Citation

This paper should be referenced as such :
Ayca Circir Hatil, Esra Cicek, Merve Oyken, A Elif Erson-Bensan
EGFR (Epidermal Growth Factor Receptor)
Atlas Genet Cytogenet Oncol Haematol. 2020;24(9):325-332.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  idic(7)(q11.2)
t(1;9)(p34;q34) SFPQ/ABL1
t(9;13)(p12;q21) PAX5/DACH1
t(7;14)(p11;q32) IGH/EGFR


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 42 ]
  Thyroid: Anaplastic (undifferentiated) carcinoma
Nervous system: Astrocytic tumors
Bone: Chordoma
Colon: Colorectal adenocarcinoma
Breast: Ductal carcinoma
Fallopian tube tumors: an overview
Gastric Tumors: an overview
Nervous System: Glioma: an overview
Head and Neck: Squamous cell carcinoma: an overview
Gallbladder: Intrahepatic cholangiocarcinoma
Lung: Non-small cell carcinoma with inv(2)(p21p23) EML4/ALK
Head and Neck: Laryngeal tumors: an overview
Head and Neck: Laryngeal squamous cell carcinoma
Lung: Non-small cell carcinoma
Thyroid: Medullary carcinoma
Head and Neck: Oral squamous cell carcinoma
Ovarian tumours : an overview
Ovary: Epithelial tumors
Pancreatic tumors: an overview
Head and Neck: Salivary gland tumors: an overview
Soft tissue tumors: an overview
Squamous cell cancer
Lung: Adenocarcinoma with t(6;12)(q22;q14.1) LRIG3/ROS1
Head and Neck: Thymus: Thymoma: an overview
Lung: Translocations in Adenocarcinoma
Lung: Translocations in Squamous Cell Carcinoma
t(1;7)(p31;p11) EGFR/ACADM
t(4;7)(p15;p11) EGFR/PPARGC1A
EGFR/PSPHP1 (7p11)
EGFR/PSPH (7p11)
EGFR/SEPT14 (7p11)
EGFR/VOPP1 (7p11)
SEC61G/EGFR (7p11)
t(7;7)(p11;p13) EGFR/PURB
t(7;9)(p11;q31) EGFR/ERP44
t(7;12)(p11;q14) CAND1/EGFR
t(7;12)(p11;q14) EGFR/GNS
t(7;12)(p11;q14) EGFR/PPM1H
t(7;12)(p11;q15) MDM2/EGFR
t(7;15)(p11;q15) EGFR/RAD51
t(7;18)(p11;q21) EGFR/DYM
t(7;19)(p11;q13) EGFR/POLD1


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial glioma


External links

Nomenclature
HGNC (Hugo)EGFR   3236
LRG (Locus Reference Genomic)LRG_304
Cards
AtlasEGFRID147ch7p11
Entrez_Gene (NCBI)EGFR  1956  epidermal growth factor receptor
AliasesERBB; ERBB1; HER1; NISBD2; 
PIG61; mENA
GeneCards (Weizmann)EGFR
Ensembl hg19 (Hinxton)ENSG00000146648 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146648 [Gene_View]  ENSG00000146648 [Sequence]  chr7:55019017-55171037 [Contig_View]  EGFR [Vega]
ICGC DataPortalENSG00000146648
TCGA cBioPortalEGFR
AceView (NCBI)EGFR
Genatlas (Paris)EGFR
WikiGenes1956
SOURCE (Princeton)EGFR
Genetics Home Reference (NIH)EGFR
Genomic and cartography
GoldenPath hg38 (UCSC)EGFR  -     chr7:55019017-55171037 +  7p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EGFR  -     7p11.2   [Description]    (hg19-Feb_2009)
GoldenPathEGFR - 7p11.2 [CytoView hg19]  EGFR - 7p11.2 [CytoView hg38]
ImmunoBaseENSG00000146648
genome Data Viewer NCBIEGFR [Mapview hg19]  
OMIM131550   211980   616069   
Gene and transcription
Genbank (Entrez)AB209442 AF125253 AF277897 AI217671 AK127817
RefSeq transcript (Entrez)NM_001346897 NM_001346898 NM_001346899 NM_001346900 NM_001346941 NM_005228 NM_201282 NM_201283 NM_201284
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EGFR
Alternative Splicing GalleryENSG00000146648
Gene ExpressionEGFR [ NCBI-GEO ]   EGFR [ EBI - ARRAY_EXPRESS ]   EGFR [ SEEK ]   EGFR [ MEM ]
Gene Expression Viewer (FireBrowse)EGFR [ Firebrowse - Broad ]
GenevisibleExpression of EGFR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1956
GTEX Portal (Tissue expression)EGFR
Human Protein AtlasENSG00000146648-EGFR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00533   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00533  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00533
Splice isoforms : SwissVarP00533
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP00533
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)Furin-like_Cys-rich_dom    Furin_repeat    GF_recep_IV    Growth_fac_rcpt_cys_sf    Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Rcpt_L-dom    Rcpt_L-dom_sf    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_EGF/ERB/XmrK_rcpt   
Domain families : Pfam (Sanger)Furin-like (PF00757)    GF_recep_IV (PF14843)    Pkinase_Tyr (PF07714)    Recep_L_domain (PF01030)   
Domain families : Pfam (NCBI)pfam00757    pfam14843    pfam07714    pfam01030   
Domain families : Smart (EMBL)FU (SM00261)  TyrKc (SM00219)  
Conserved Domain (NCBI)EGFR
DMDM Disease mutations1956
Blocks (Seattle)EGFR
PDB (RSDB)1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
PDB Europe1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
PDB (PDBSum)1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
PDB (IMB)1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
Structural Biology KnowledgeBase1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
SCOP (Structural Classification of Proteins)1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
CATH (Classification of proteins structures)1DNQ    1DNR    1IVO    1M14    1M17    1MOX    1NQL    1XKK    1YY9    1Z9I    2EB2    2EB3    2EXP    2EXQ    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    3OP0    3P0Y    3PFV    3POZ    3QWQ    3UG1    3UG2    3VJN    3VJO    3VRP    3VRR    3W2O    3W2P    3W2Q    3W2R    3W2S    3W32    3W33    4G5J    4G5P    4HJO    4I1Z    4I20    4I21    4I22    4I23    4I24    4JQ7    4JQ8    4JR3    4JRV    4KRL    4KRM    4KRO    4KRP    4LI5    4LL0    4LQM    4LRM    4R3P    4R3R    4R5S    4RIW    4RIX    4RIY    4RJ4    4RJ5    4RJ6    4RJ7    4RJ8    4TKS    4UIP    4UV7    4WD5    4WKQ    4WRG    4ZAU    4ZJV    4ZSE    5C8K    5C8M    5C8N    5CAL    5CAN    5CAO    5CAP    5CAQ    5CAS    5CAU    5CAV    5CNN    5CNO    5CZH    5CZI    5D41    5EDP    5EDQ    5EDR    5EM5    5EM6    5EM7    5EM8    5FED    5FEE    5FEQ    5GMP    5GNK    5GTY    5GTZ    5HCX    5HCY    5HCZ    5HG5    5HG7    5HG8    5HG9    5HIB    5HIC    5J9Y    5J9Z    5JEB    5LV6    5SX4    5SX5    5U8L    5UG8    5UG9    5UGA    5UGB    5UGC    5UWD    5WB7    5WB8    5X26    5X27    5X28    5X2A    5X2C    5X2F    5X2K    5XDK    5XDL    5XGM    5XGN    5XWD    5Y25    5Y9T    5YU9    5ZTO    5ZWJ    6ARU    6B3S    6D8E    6DUK    6JZ0    6P1D    6P1L    6P8Q    6S89    6S8A    6S9B    6S9C    6S9D   
SuperfamilyP00533
Human Protein Atlas [tissue]ENSG00000146648-EGFR [tissue]
Peptide AtlasP00533
HPRD00579
IPIIPI00018274   IPI00221346   IPI00221347   IPI00221348   IPI00930194   IPI00930693   IPI01026443   IPI00915452   IPI01013089   IPI01011440   IPI00930192   IPI00930294   IPI00956452   IPI00943104   IPI00924546   IPI00926683   
Protein Interaction databases
DIP (DOE-UCLA)P00533
IntAct (EBI)P00533
BioGRIDEGFR
STRING (EMBL)EGFR
ZODIACEGFR
Ontologies - Pathways
QuickGOP00533
Ontology : AmiGOGolgi membrane  MAPK cascade  activation of MAPKK activity  ossification  virus receptor activity  embryonic placenta development  positive regulation of protein phosphorylation  hair follicle development  chromatin binding  double-stranded DNA binding  MAP kinase kinase kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane signaling receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  integrin binding  protein binding  calmodulin binding  ATP binding  extracellular space  nucleus  cytoplasm  endosome  endosome  endoplasmic reticulum membrane  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  regulation of transcription by RNA polymerase II  translation  response to osmotic stress  signal transduction  signal transduction  cell surface receptor signaling pathway  transmembrane receptor protein tyrosine kinase signaling pathway  epidermal growth factor receptor signaling pathway  epidermal growth factor receptor signaling pathway  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  multicellular organism development  salivary gland morphogenesis  midgut development  learning or memory  circadian rhythm  positive regulation of cell proliferation  positive regulation of cell proliferation  positive regulation of cell proliferation  basal plasma membrane  cell surface  endosome membrane  positive regulation of nitric oxide mediated signal transduction  magnesium ion homeostasis  regulation of phosphatidylinositol 3-kinase signaling  membrane  diterpenoid metabolic process  basolateral plasma membrane  apical plasma membrane  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  protein phosphatase binding  cerebral cortex cell migration  cell junction  endocytic vesicle  cell differentiation  nitric-oxide synthase regulator activity  positive regulation of cell growth  lung development  positive regulation of cell migration  clathrin-coated vesicle membrane  ubiquitin protein ligase binding  early endosome membrane  nuclear membrane  positive regulation of superoxide anion generation  protein-containing complex  positive regulation of peptidyl-serine phosphorylation  response to cobalamin  response to hydroxyisoflavone  positive regulation of kinase activity  cellular response to reactive oxygen species  peptidyl-tyrosine autophosphorylation  peptidyl-tyrosine autophosphorylation  ERBB2 signaling pathway  negative regulation of epidermal growth factor receptor signaling pathway  wound healing  negative regulation of protein catabolic process  positive regulation of phosphorylation  ovulation cycle  hydrogen peroxide metabolic process  identical protein binding  activation of phospholipase A2 activity by calcium-mediated signaling  negative regulation of apoptotic process  negative regulation of apoptotic process  receptor complex  receptor complex  positive regulation of MAP kinase activity  tongue development  membrane raft  membrane raft  synapse  cadherin binding  positive regulation of cyclin-dependent protein serine/threonine kinase activity  positive regulation of DNA repair  positive regulation of DNA replication  negative regulation of Notch signaling pathway  positive regulation of bone resorption  positive regulation of transcription, DNA-templated  positive regulation of vasoconstriction  negative regulation of mitotic cell cycle  positive regulation of transcription by RNA polymerase II  regulation of JNK cascade  viral entry into host cell  protein autophosphorylation  astrocyte activation  positive regulation of fibroblast proliferation  epidermal growth factor binding  perinuclear region of cytoplasm  digestive tract morphogenesis  positive regulation of smooth muscle cell proliferation  neuron projection morphogenesis  positive regulation of epithelial cell proliferation  positive regulation of epithelial cell proliferation  positive regulation of inflammatory response  regulation of peptidyl-tyrosine phosphorylation  regulation of nitric-oxide synthase activity  actin filament binding  ATPase binding  protein insertion into membrane  response to calcium ion  positive regulation of protein kinase B signaling  positive regulation of protein kinase B signaling  positive regulation of synaptic transmission, glutamatergic  morphogenesis of an epithelial fold  membrane organization  eyelid development in camera-type eye  response to UV-A  regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  Shc-EGFR complex  cellular response to amino acid stimulus  cellular response to mechanical stimulus  cellular response to cadmium ion  cellular response to epidermal growth factor stimulus  cellular response to estradiol stimulus  cellular response to dexamethasone stimulus  positive regulation of canonical Wnt signaling pathway  liver regeneration  multivesicular body, internal vesicle lumen  positive regulation of blood vessel diameter  cell-cell adhesion  positive regulation of protein kinase C activity  positive regulation of G1/S transition of mitotic cell cycle  negative regulation of ERBB signaling pathway  positive regulation of NIK/NF-kappaB signaling  positive regulation of prolactin secretion  positive regulation of protein localization to plasma membrane  positive regulation of production of miRNAs involved in gene silencing by miRNA  negative regulation of cardiocyte differentiation  regulation of cell motility  
Ontology : EGO-EBIGolgi membrane  MAPK cascade  activation of MAPKK activity  ossification  virus receptor activity  embryonic placenta development  positive regulation of protein phosphorylation  hair follicle development  chromatin binding  double-stranded DNA binding  MAP kinase kinase kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  transmembrane signaling receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  integrin binding  protein binding  calmodulin binding  ATP binding  extracellular space  nucleus  cytoplasm  endosome  endosome  endoplasmic reticulum membrane  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  regulation of transcription by RNA polymerase II  translation  response to osmotic stress  signal transduction  signal transduction  cell surface receptor signaling pathway  transmembrane receptor protein tyrosine kinase signaling pathway  epidermal growth factor receptor signaling pathway  epidermal growth factor receptor signaling pathway  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  multicellular organism development  salivary gland morphogenesis  midgut development  learning or memory  circadian rhythm  positive regulation of cell proliferation  positive regulation of cell proliferation  positive regulation of cell proliferation  basal plasma membrane  cell surface  endosome membrane  positive regulation of nitric oxide mediated signal transduction  magnesium ion homeostasis  regulation of phosphatidylinositol 3-kinase signaling  membrane  diterpenoid metabolic process  basolateral plasma membrane  apical plasma membrane  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  protein phosphatase binding  cerebral cortex cell migration  cell junction  endocytic vesicle  cell differentiation  nitric-oxide synthase regulator activity  positive regulation of cell growth  lung development  positive regulation of cell migration  clathrin-coated vesicle membrane  ubiquitin protein ligase binding  early endosome membrane  nuclear membrane  positive regulation of superoxide anion generation  protein-containing complex  positive regulation of peptidyl-serine phosphorylation  response to cobalamin  response to hydroxyisoflavone  positive regulation of kinase activity  cellular response to reactive oxygen species  peptidyl-tyrosine autophosphorylation  peptidyl-tyrosine autophosphorylation  ERBB2 signaling pathway  negative regulation of epidermal growth factor receptor signaling pathway  wound healing  negative regulation of protein catabolic process  positive regulation of phosphorylation  ovulation cycle  hydrogen peroxide metabolic process  identical protein binding  activation of phospholipase A2 activity by calcium-mediated signaling  negative regulation of apoptotic process  negative regulation of apoptotic process  receptor complex  receptor complex  positive regulation of MAP kinase activity  tongue development  membrane raft  membrane raft  synapse  cadherin binding  positive regulation of cyclin-dependent protein serine/threonine kinase activity  positive regulation of DNA repair  positive regulation of DNA replication  negative regulation of Notch signaling pathway  positive regulation of bone resorption  positive regulation of transcription, DNA-templated  positive regulation of vasoconstriction  negative regulation of mitotic cell cycle  positive regulation of transcription by RNA polymerase II  regulation of JNK cascade  viral entry into host cell  protein autophosphorylation  astrocyte activation  positive regulation of fibroblast proliferation  epidermal growth factor binding  perinuclear region of cytoplasm  digestive tract morphogenesis  positive regulation of smooth muscle cell proliferation  neuron projection morphogenesis  positive regulation of epithelial cell proliferation  positive regulation of epithelial cell proliferation  positive regulation of inflammatory response  regulation of peptidyl-tyrosine phosphorylation  regulation of nitric-oxide synthase activity  actin filament binding  ATPase binding  protein insertion into membrane  response to calcium ion  positive regulation of protein kinase B signaling  positive regulation of protein kinase B signaling  positive regulation of synaptic transmission, glutamatergic  morphogenesis of an epithelial fold  membrane organization  eyelid development in camera-type eye  response to UV-A  regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  Shc-EGFR complex  cellular response to amino acid stimulus  cellular response to mechanical stimulus  cellular response to cadmium ion  cellular response to epidermal growth factor stimulus  cellular response to estradiol stimulus  cellular response to dexamethasone stimulus  positive regulation of canonical Wnt signaling pathway  liver regeneration  multivesicular body, internal vesicle lumen  positive regulation of blood vessel diameter  cell-cell adhesion  positive regulation of protein kinase C activity  positive regulation of G1/S transition of mitotic cell cycle  negative regulation of ERBB signaling pathway  positive regulation of NIK/NF-kappaB signaling  positive regulation of prolactin secretion  positive regulation of protein localization to plasma membrane  positive regulation of production of miRNAs involved in gene silencing by miRNA  negative regulation of cardiocyte differentiation  regulation of cell motility  
Pathways : KEGGMAPK signaling pathway    ErbB signaling pathway    Ras signaling pathway    Rap1 signaling pathway    Calcium signaling pathway    Cytokine-cytokine receptor interaction    HIF-1 signaling pathway    FoxO signaling pathway    Endocytosis    PI3K-Akt signaling pathway    Dorso-ventral axis formation    Focal adhesion    Adherens junction    Gap junction    Regulation of actin cytoskeleton    GnRH signaling pathway    Estrogen signaling pathway    Epithelial cell signaling in Helicobacter pylori infection    Hepatitis C    Pathways in cancer    Proteoglycans in cancer    MicroRNAs in cancer    Pancreatic cancer    Endometrial cancer    Glioma    Prostate cancer    Melanoma    Bladder cancer    Non-small cell lung cancer   
REACTOMEP00533 [protein]
REACTOME PathwaysR-HSA-9634638 [pathway]   
NDEx NetworkEGFR
Atlas of Cancer Signalling NetworkEGFR
Wikipedia pathwaysEGFR
Orthology - Evolution
OrthoDB1956
GeneTree (enSembl)ENSG00000146648
Phylogenetic Trees/Animal Genes : TreeFamEGFR
HOGENOMP00533
Homologs : HomoloGeneEGFR
Homology/Alignments : Family Browser (UCSC)EGFR
Gene fusions - Rearrangements
Fusion : MitelmanCAND1/EGFR [12q14.3/7p11.2]  
Fusion : MitelmanEGFR/ACADM [7p11.2/1p31.1]  
Fusion : MitelmanEGFR/DYM [7p11.2/18q21.1]  
Fusion : MitelmanEGFR/ERP44 [7p11.2/9q31.1]  
Fusion : MitelmanEGFR/GNS [7p11.2/12q14.3]  
Fusion : MitelmanEGFR/POLD1 [7p11.2/19q13.33]  
Fusion : MitelmanEGFR/PPM1H [7p11.2/12q14.1]  
Fusion : MitelmanEGFR/PSPH [7p11.2/7p11.2]  
Fusion : MitelmanEGFR/PSPHP1 [7p11.2/7p11.2]  
Fusion : MitelmanEGFR/SEPT14 [7p11.2/7p11.2]  
Fusion : MitelmanEGFR/VOPP1 [7p11.2/7p11.2]  
Fusion : MitelmanIGH/EGFR [14q32.33/7p11.2]  
Fusion : MitelmanMDM2/EGFR [12q15/7p11.2]  
Fusion : MitelmanSEC61G/EGFR [7p11.2/7p11.2]  
Fusion PortalEGFR 7p11.2 ACADM 1p31.1 HNSC
Fusion PortalEGFR 7p11.2 DYM 18q21.1 HNSC
Fusion PortalEGFR 7p11.2 ERP44 9q31.1 GBM
Fusion PortalEGFR 7p11.2 GNS 12q14.3 GBM
Fusion PortalEGFR 7p11.2 PPM1H 12q14.1 GBM
Fusion PortalEGFR 7p11.2 SEPT14 7p11.2 GBM HNSC LGG
Fusion PortalMDM2 12q15 EGFR 7p11.2 GBM
Fusion : Fusion_HubATRX--EGFR    BPHL--EGFR    BRIP1--EGFR    CAND1--EGFR    CDKAL1--EGFR    EGFR--AARS2    EGFR--ABHD12    EGFR--ACADM    EGFR--AKT1    EGFR--ALK    EGFR--AMPH    EGFR--AREG    EGFR--C16ORF72    EGFR--CHCHD2    EGFR--CUX1   
EGFR--DDX47    EGFR--DYM    EGFR--EGF    EGFR--EGFR    EGFR--ELDR    EGFR--ERP44    EGFR--FANCC    EGFR--FKBP9L    EGFR--GASP    EGFR--GNS    EGFR--GPR30    EGFR--GRB10    EGFR--H19    EGFR--IGF2    EGFR--IGH@   
EGFR--IGSF6    EGFR--KIAA0573    EGFR--KRT123P    EGFR--KRT5    EGFR--LANCL2    EGFR--LINC01399    EGFR--LINC01445    EGFR--LYST    EGFR--MDM2    EGFR--NOL11    EGFR--PDE1C    EGFR--PDGFC    EGFR--POLD1    EGFR--PPARGC1A    EGFR--PPM1H   
EGFR--PRKAR1A    EGFR--PRKDC    EGFR--PSPH    EGFR--PTPRF    EGFR--RANGAP1    EGFR--REC8    EGFR--SDK1    EGFR--SEC61G    EGFR--SEPT14    EGFR--SPRY2    EGFR--SSR3    EGFR--TEAD2    EGFR--VOPP1    EGFR--VSTM2A    EGFR--VWC2   
EGFR--WIF1    EGFR--ZG16B    ERBB2--EGFR    ERK--EGFR    ERK1--EGFR    FAM65A--EGFR    GFAP--EGFR    GNS--EGFR    HER2--EGFR    HER4--EGFR    HMGA2--EGFR    IGF1R--EGFR    IGKC--EGFR    KRAS--EGFR    KRT123P--EGFR   
KRT5--EGFR    LOC100996654--EGFR    MDM2--EGFR    MIG6--EGFR    MUC13--EGFR    PIK3CA--EGFR    SEC61G--EGFR    SEPT14--EGFR    SGLT1--EGFR    SLC12A9--EGFR    SOD--EGFR    SOS1--EGFR    SPINK1--EGFR    STAT3--EGFR    TAX1BP1--EGFR   
TGFA--EGFR    VEGFR--EGFR    VEGFR2--EGFR   
Fusion : QuiverEGFR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEGFR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EGFR
dbVarEGFR
ClinVarEGFR
MonarchEGFR
1000_GenomesEGFR 
Exome Variant ServerEGFR
GNOMAD BrowserENSG00000146648
Varsome BrowserEGFR
Genetic variants : HAPMAP1956
Genomic Variants (DGV)EGFR [DGVbeta]
DECIPHEREGFR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEGFR 
Mutations
ICGC Data PortalEGFR 
TCGA Data PortalEGFR 
Broad Tumor PortalEGFR
OASIS PortalEGFR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEGFR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEGFR
Mutations and Diseases : HGMDEGFR
intOGen PortalEGFR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch EGFR
DgiDB (Drug Gene Interaction Database)EGFR
DoCM (Curated mutations)EGFR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EGFR (select a term)
intoGenEGFR
OncoKBEGFR
NCG6 (London) select EGFR
Cancer3DEGFR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131550    211980    616069   
Orphanet19649    19649    19650    19650    22213    20902   
DisGeNETEGFR
MedgenEGFR
Genetic Testing Registry EGFR
NextProtP00533 [Medical]
TSGene1956
GENETestsEGFR
Target ValidationEGFR
Huge Navigator EGFR [HugePedia]
snp3D : Map Gene to Disease1956
BioCentury BCIQEGFR
ClinGenEGFR
Clinical trials, drugs, therapy
Protein Interactions : CTD1956
Pharm GKB GenePA7360
Pharm GKB PathwaysPA154426903   PA162356267   PA165980050   
Drug Sensitivity EGFR
Clinical trialEGFR
Miscellaneous
canSAR (ICR)EGFR (select the gene name)
HarmonizomeEGFR
DataMed IndexEGFR
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEGFR
EVEXEGFR
GoPubMedEGFR
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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