Details for Gene EGFR

GENE NAME EGFR
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000146648
UNIPROT ACCESSION NUMBER P00533
GO MOLECULAR FUNCTION ['protein phosphatase binding', 'MAP kinase kinase kinase activity', 'transmembrane signaling receptor activity', 'kinase binding', 'double-stranded DNA binding', 'protein binding', 'virus receptor activity', 'identical protein binding', 'nitric-oxide synthase regulator activity', 'protein tyrosine kinase activity', 'actin filament binding', 'epidermal growth factor-activated receptor activity', 'chromatin binding', 'ATPase binding', 'ATP binding', 'cadherin binding', 'ubiquitin protein ligase binding', 'epidermal growth factor binding', 'enzyme binding', 'protein serine/threonine/tyrosine kinase activity', 'transmembrane receptor protein tyrosine kinase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01521; hsa01522; hsa04010; hsa04012; hsa04014; hsa04015; hsa04020; hsa04066; hsa04068; hsa04072; hsa04144; hsa04151; hsa04510; hsa04520; hsa04540; hsa04630; hsa04810; hsa04912; hsa04915; hsa04921; hsa04926; hsa04928; hsa04934; hsa05120; hsa05131; hsa05160; hsa05163; hsa05165; hsa05171; hsa05200; hsa05205; hsa05206; hsa05210; hsa05212; hsa05213; hsa05214; hsa05215; hsa05218; hsa05219; hsa05223; hsa05224; hsa05225; hsa05226; hsa05230; hsa05231; hsa05235; R-HSA-1227986; R-HSA-1227990; R-HSA-1236382; R-HSA-1236394; R-HSA-1250196; R-HSA-1251932; R-HSA-1257604; R-HSA-1266738; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-1643713; R-HSA-177929; R-HSA-179812; R-HSA-180292; R-HSA-180336; R-HSA-182971; R-HSA-1963640; R-HSA-1963642; R-HSA-199418; R-HSA-199991; R-HSA-212436; R-HSA-212718; R-HSA-2179392; R-HSA-2219528; R-HSA-2219530; R-HSA-372790; R-HSA-373760; R-HSA-388396; R-HSA-416476; R-HSA-422475; R-HSA-445144; R-HSA-5637810; R-HSA-5637812; R-HSA-5637815; R-HSA-5638302; R-HSA-5638303; R-HSA-5653656; R-HSA-5663202; R-HSA-5663205; R-HSA-5673001; R-HSA-5683057; R-HSA-5684996; R-HSA-6785631; R-HSA-6811558; R-HSA-73857; R-HSA-74160; R-HSA-881907; R-HSA-8847993; R-HSA-8848021; R-HSA-8856825; R-HSA-8856828; R-HSA-8857538; R-HSA-8863795; R-HSA-8864260; R-HSA-8866910; R-HSA-8939211; R-HSA-9006925; R-HSA-9006927; R-HSA-9006931; R-HSA-9006934; R-HSA-9009391; R-HSA-9012852; R-HSA-9013507; R-HSA-9609646; R-HSA-9609690; R-HSA-9634638; R-HSA-9664565; R-HSA-9665348; R-HSA-9665686; R-HSA-9675108; hsa01521; hsa01522; hsa04010; hsa04012; hsa04014; hsa04015; hsa04020; hsa04066; hsa04068; hsa04072; hsa04144; hsa04151; hsa04510; hsa04520; hsa04540; hsa04630; hsa04810; hsa04912; hsa04915; hsa04921; hsa04926; hsa04928; hsa04934; hsa05120; hsa05131; hsa05160; hsa05163; hsa05165; hsa05171; hsa05200; hsa05205; hsa05206; hsa05210; hsa05212; hsa05213; hsa05214; hsa05215; hsa05218; hsa05219; hsa05223; hsa05224; hsa05225; hsa05226; hsa05230; hsa05231; hsa05235
9 combinations linked to EGFR OLI873; OLI554; OLI871; OLI1239; OLI861; OLI884; OLI882; OLI1234; OLI901
5 variants linked to EGFR EGFR:c.3250G>A, p.Asp1084Asn; EGFR:c.2492G>A, p.Arg831His; EGFR:c.1888G>A, p.Gly630Arg; EGFR:c.500T>C, p.Ile167Thr; EGFR:c.2884C>T, p.Arg962Cys
4 diseases linked to EGFR Normosmic congenital hypogonadotropic hypogonadism; Schizophrenia; Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility; Kallmann syndrome
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