Neurogenic locus notch homolog protein 2 (NOTCH2) is a highly conserved Notch signaling pathway protein. NOTCH2 is a type 1 transmembrane protein with an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. NOTCH2 functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Defects in NOTCH2 are the cause of Alagille syndrome type 2 (ALGS2). Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
蛋白别名: N2ECD; N2ICD; Neurogenic locus notch homolog protein 2; Notch 2; Notch 2 extracellular truncation; Notch 2 intracellular domain; Notch homolog 2
基因别名: AGS2; HJCYS; hN2; NOTCH2
UniProt ID: (Human) Q04721
Entrez Gene ID: (Human) 4853