基因名称：PKD2 （polycystin 2, transient receptor potential cation channel）
别名： PC2,PKD4,Pc-2,APKD2,TRPP2
基因ID：5311
Chromosome(GRCh37) ：4 Start: 88928799 End: 88998931 Strand:
信号通路：
靶向药：
化疗药：
简介：这个基因编码多囊蛋白家族的一个成员。编码蛋白是一种多程膜蛋白，具有钙离子通道的功能，参与肾上皮细胞钙离子转运和钙信号转导该蛋白与多囊蛋白1相互作用，它们可能是参与肾小管形态发生的共同信号级联的伙伴。该基因突变与常染色体显性遗传多囊肾病2型相关[由RefSeq提供，2011年3月]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]
PKD2突变与药物：
