The PKD2 gene encodes a membrane protein that functions as a large-conductance nonselective calcium-permeable cation channel. In renal epithelial cells, this channel is involved in calcium ion transport and calcium signaling. The protein is also found in primary cilia, where it functions in mechanosensation of fluid flow and in response, stimulates an increase in intracellular calcium. By carrying out its functions, the PKD2 protein is found to be involved in cell proliferation, tubule development and normal kidney functioning.
The gene has been implicated in Polycystic Kidney Disease 2 (PKD2), a progressive renal disorder characterized by cysts on the kidney and liver, renal insufficiency and urinary tract infections.