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GENERAL INFORMATION
Gene name
ERBB2
Gene description
Erb-b2 receptor tyrosine kinase 2
Protein class
Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Plasma proteins Predicted intracellular proteins Predicted membrane proteins
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)