Transient receptor potential cation channel subfamily P member 2
功能Functions as a calcium permeable cation channel. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis.
组织特异性Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.
疾病相关Defects in PKD2 are the cause of polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]. ADPKD2 is a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. ADPKD2 is clinically milder than ADPKD1 but it has a deleterious impact on overall life expectancy.
序列相似性Belongs to the polycystin family. Contains 1 EF-hand domain.
结构域The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1.