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. ,
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