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FLASH GENE
Symbol EGFR contributors: mct/pgu - updated : 05-11-2019
HGNC name epidermal growth factor receptor
HGNC id 3236
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
in prostate carcinoma, brain astrocytomas and gliomas (tandemly duplicated
tumoral   deletion    
in brain glioblastoma
tumoral somatic mutation      
in malignant oral keratinocytes and in non-small cell lung cancer of non-smokers
tumoral   amplification    
short alleles of polymorphic CA repeat located at a 5-regulatory sequence in the intron 1 associated with increased expression in osteosarcoma
tumoral   amplification    
frequent alterations in primary melanomas and associated with bad prognosis
tumoral     --over  
correlated with poor prognosis in Glioblastoma multiforme patients
Susceptibility to non-small cell lung cancer
Variant & Polymorphism other germline mutation T790M in non-small cell lung cancer, mutation drug resistance, stimulating DNA synthesis and cytoskeletal rearrangement in breast cancer (MCF-7) and prostate cancer (LNCaP) cells
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancer  
important target of cancer drug design (inhibition of EGFR signaling in cancer cells induces NOTCH1 gene expression through TP53)
cancerlung 
lung adenocarcinomas with activating mutations in EGFR often respond to treatment with EGFR tyrosine kinase inhibitors (TKIs), but the magnitude of tumour regression is variable and transient
cancerhead and neck 
dual blockade of MET and EGFR may be a promising clinical therapeutic strategy for treating HNSCC
dermatologyskin 
is a potential therapeutic target for pemphigus
miscelleaneousurinary 
targeting HDAC6 to downregulate EGFR activity may provide a potential therapeutic approach to treat polycystic kidney disease
cancerreproductiveprostate
blockade of EGFR signaling could be more effective in preventing and retarding PCa progression toward metastasis
miscelleaneousurinarychronic kidney disease
most promising targets for future therapeutic development in Polycystic kidney disease (PKD)are those that target upstream signaling events at cell membranes, such as the vasopressin-2 receptor (AVPR2), EGFR/ERBB2
ANIMAL & CELL MODELS