Primary Identifier | MGI:95294 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 13649 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables epidermal growth factor binding activity; epidermal growth factor receptor activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including ERBB2-EGFR signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; and positive regulation of fibroblast proliferation. Acts upstream of or within several processes, including eyelid development in camera-type eye; hair follicle development; and salivary gland morphogenesis. Located in several cellular components, including basolateral plasma membrane; endocytic vesicle; and perinuclear region of cytoplasm. Is active in plasma membrane. Is expressed in several structures, including alimentary system; brain; integumental system; limb; and sensory organ. Used to study Coronavirus infectious disease and aortic valve disease. Human ortholog(s) of this gene implicated in several diseases, including colorectal cancer; lung cancer (multiple); pancreatic cancer; prostate cancer; and pulmonary tuberculosis. Orthologous to human EGFR (epidermal growth factor receptor). PHENOTYPE: Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis. [provided by MGI curators] |