| Background: |
catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.,disease:Defects in ERBB2 are associated with familial glioma of brain [MIM:137800]; also called glioblastoma multiforme. Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, and ependymomas.,disease:Defects in ERBB2 are associated with gastric cancer [MIM:137215]; also known as hereditary familial diffuse gastric cancer (HDGC).,disease:Defects in ERBB2 are associated with lung cancer [MIM:211980]; also called adenocarcinoma of lung.,disease:Defects in ERBB2 are associated with ovarian cancer [MIM:167000]. Ovarian cancer is the leading cause of death from gynecologic malignancy. It is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases. These typical features relate to the biology of the disease, which is a principal determinant of outcome.,function:Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Not activated by EGF, TGF-alpha and amphiregulin.,online information:ERBB2 entry,polymorphism:There are fours alleles due to the variations in positions 654 and 655. Allele B1 (Ile-654/Ile-655) has a frequency of 0.782; allele B2 (Ile-654/Val-655) has a frequency of 0.206; allele B3 (Val-654/Val-655) has a frequency of 0.012.,PTM:Ligand-binding increases phosphorylation on tyrosine residues.,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.,similarity:Contains 1 protein kinase domain.,subunit:Heterodimer with each of the other ERBB receptors (Potential). Interacts with PRKCABP and PLXNB1. Part of a complex with EGFR and either PIK3C2A or PIK3C2B. May interact with PIK3C2B when phosphorylated on Tyr-1196. Interacts with MEMO when phosphorylated on Tyr-1248. Interacts with MUC1. Stimulation by heregulin (HRG) in breast cancer cell lines induces binding of MUC1 with gamma-catenin., |
