PKD2

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]

Description

polycystic kidney disease 2 (autosomal dominant)

Protein family

Membrane proteins predicted by MDM, Transporters, Voltage-gated ion channels

Chromosome

4:q22.1 (88928820 - 88998929)

Ensembl ID

ENSG00000118762  (ver. 69.37)

Orthologs

Mouse Pkd2: ENSMUSG00000034462

Human splice variants
Mouse splice variants