The NOTCH2 gene provides instructions for making a protein that belongs to a large family of receptor proteins. Other proteins, called ligands, can fit into specific sites on receptor proteins, like a key into a lock. When a ligand attaches to the NOTCH2 receptor protein, it triggers a signaling pathway that is important for normal growth and development. Before birth, NOTCH2 signaling plays a role in the development of cells that will become part of the heart, liver, kidneys, teeth, bones, and other structures in the growing embryo. After birth, NOTCH2 signaling is involved in immune system function; tissue repair; and a process called bone remodeling, in which old bone is removed and new bone is created to replace it. NOTCH2 signaling also plays a role in the communication between neighboring cells.
The NOTCH2 receptor protein is embedded in the cell membrane and has several major parts, including a region that extends outward from the surface of the cell and a region that lies inside the cell. When a ligand binds to the outer portion of the NOTCH2 receptor protein, the inner portion separates from the rest of the protein. This part of the protein travels into the cell’s nucleus, where it helps regulate the activity of specific genes.
Other Names
hN2; notch 2
Related Genetics Topics
Identifiers
- NCBI Gene: 4853
- OMIM: 600275
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
