其他名称: PKD2; Polycystin-2; Autosomal dominant polycystic kidney disease type II protein; Polycystic kidney disease 2 protein; Polycystwin; R48321
分子量: 97kD
功能: 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.,
相关产品: YT3774,YP1196,RS0001,RS0002,YM3028,YM3029
细胞定位: Cell projection, cilium membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane . Cytoplasmic vesicle membrane . Golgi apparatus . PKD2 localization to the plasma and ciliary membranes requires PKD1. PKD1:PKD2 interaction is required to reach the Golgi apparatus form endoplasmic reticulum and then traffic to the cilia (By similarity). Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563). Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959). Cell surface and cilium localization requires GANAB (PubMed:27259053). .
组织表达: Detected in fetal and adult kidney (PubMed:10770959). Detected at the thick ascending limb of the loop of Henle, at distal tubules, including the distal convoluted tubule and cortical collecting tubules, with weak staining of the collecting duct (PubMed:10770959). Detected on placenta syncytiotrophoblasts (at protein level) (PubMed:26269590). Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.
其他名称: PKD2; Polycystin-2; Autosomal dominant polycystic kidney disease type II protein; Polycystic kidney disease 2 protein; Polycystwin; R48321
分子量: 97kD
功能: 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.,
相关产品: YT3774,YP1196,RS0001,RS0002,YM3028,YM3029
细胞定位: Cell projection, cilium membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane . Cytoplasmic vesicle membrane . Golgi apparatus . PKD2 localization to the plasma and ciliary membranes requires PKD1. PKD1:PKD2 interaction is required to reach the Golgi apparatus form endoplasmic reticulum and then traffic to the cilia (By similarity). Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563). Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959). Cell surface and cilium localization requires GANAB (PubMed:27259053). .
组织表达: Detected in fetal and adult kidney (PubMed:10770959). Detected at the thick ascending limb of the loop of Henle, at distal tubules, including the distal convoluted tubule and cortical collecting tubules, with weak staining of the collecting duct (PubMed:10770959). Detected on placenta syncytiotrophoblasts (at protein level) (PubMed:26269590). Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.