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

Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014), Transporters, Voltage-gated ion channels

Chromosome

4:q22.1 (88007668 - 88077777)

Ensembl ID

ENSG00000118762  (ver. 84.38)

Orthologs

Mouse Pkd2: ENSMUSG00000034462

UniProt

Q13563

neXtProt

NX_Q13563

Human splice variants
Mouse splice variants