| Entrez Gene ID |
5311 |
| Official Gene Symbol |
PKD2 (GeneCards) |
| Full name |
polycystin 2, transient receptor potential cation channel |
| Location |
4q22.1 |
| Other ids |
Vega : OTTHUMG00000160982
MIM : 173910
HGNC : HGNC:9009
Ensembl : ENSG00000118762
|
| Other names |
PC2,
PKD4,
Pc-2,
APKD2,
TRPP2
|
| 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] |