Gene Symbol | PKD2 |
Entrez Gene ID | 5311 |
Full Name | polycystin 2, transient receptor potential cation channel |
Synonyms | APKD2,PC2,PKD4,Pc-2,TRPP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Polycystic kidney disease 2, 613095 (3) |