PKD2, Polycystin-2, Autosomal dominant polycystic kidney disease type II protein, Polycystic kidney disease 2 protein, Polycystwin, R48321
polycystin 2, transient receptor potential cation channel(PKD2) Homo sapiens This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011],disease:Defects in PKD2 are the cause of polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:173900]. ADPKD2 represents approximately 15% of the cases of ADPKD, a common genetic disease affecting about 1:400 to 1:1000 individuals. ADPKD is 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. ADPKD2 is clinically milder than ADPKD1 but it has a deleterious impact on overall life expectancy.,domain: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.,function:Functions as a calcium permeable cation channel. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis.,online information:Polycystin 2 - Not a C-type lectin,similarity:Belongs to the polycystin family.,similarity:Contains 1 EF-hand domain.,subunit:Forms homooligomers. Interacts with PKD1. PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP.,tissue specificity:Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.,
