Details for Gene EGF

GENE NAME EGF
CHROMOSOME 4
ENSEMBL ID ENSG00000138798
ENTREZ ID 1950
UNIPROT ACCESSION NUMBER P01133
GO MOLECULAR FUNCTION calcium ion binding; protein binding; epidermal growth factor receptor binding; transmembrane receptor protein tyrosine kinase activator activity; growth factor activity; guanyl-nucleotide exchange factor activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1236382; R-HSA-5663202; hsa05200; hsa04540; R-HSA-9665348; R-HSA-179812; hsa04020; R-HSA-162582; R-HSA-1963642; R-HSA-9013507; R-HSA-2219530; R-HSA-182971; hsa04012; R-HSA-9006934; R-HSA-157118; R-HSA-76002; hsa05235; R-HSA-109582; R-HSA-8848021; R-HSA-9664565; hsa04015; R-HSA-199418; R-HSA-5653656; R-HSA-1251932; hsa05210; R-HSA-5673001; hsa05219; R-HSA-1250196; R-HSA-1227986; R-HSA-1236394; R-HSA-1257604; R-HSA-9006925; R-HSA-177929; hsa05214; R-HSA-1227990; R-HSA-5638303; R-HSA-5637812; R-HSA-76005; R-HSA-8863795; hsa05165; hsa05215; R-HSA-6811558; hsa04014; R-HSA-5683057; hsa04066; R-HSA-1643713; R-HSA-5637810; hsa04810; hsa05231; R-HSA-2219528; R-HSA-180292; R-HSA-180336; hsa04068; R-HSA-1963640; R-HSA-8939211; hsa01521; R-HSA-6785631; R-HSA-8856825; hsa04510; R-HSA-5637815; hsa05226; R-HSA-9006927; R-HSA-9634638; hsa05218; hsa04072; R-HSA-114608; R-HSA-8856828; hsa05224; R-HSA-9012852; R-HSA-212718; hsa04010; hsa05213; hsa05223; R-HSA-5684996; R-HSA-9009391; hsa04630; hsa05160; R-HSA-5638302; R-HSA-9665686; R-HSA-199991; R-HSA-8847993; R-HSA-9006931; hsa05212; hsa04151; R-HSA-1643685
6 combinations linked to EGF OLI845; OLI874; OLI906; OLI996; OLI913; OLI860
5 variants linked to EGF EGF:c.3487C>T, p.Arg1163Ter; EGF:c.1813G>C, p.Val605Leu; EGF:c.3221C>T, p.Ser1074Leu; EGF:c.1501A>G, p.Thr501Ala; EGF:c.16A>G, p.Ile6Val
4 diseases linked to EGF Normosmic congenital hypogonadotropic hypogonadism; Androgen insensitivity syndrome; 46,XY disorder of sex development; Kallmann syndrome
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