The NOTCH2 gene encodes members of the Notch family, a type 1 transmembrane protein family composed of an extracellular domain (consisting of multiple epidermal growth factor-like repeats - EGF), and an intracellular domain.
The members of the Notch family play a role in a variety of developmental processes by determining decisions about the fate of cells and organs.
NOTCH2 (Notch 2) is a protein coding gene. Diseases associated with NOTCH2 include Alagille syndrome and Haydu-Cheney syndrome.
The NOTCH2 receptor acts as a receptor for various membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1). This signalling pathway influences the implementation of differentiation, proliferation and apoptotic programmes. It is involved in bone remodeling and homeostasis. The activity of the NFATc1 promoter is enhanced and the RANKL-induced differentiation of osteoclasts is positively influenced.