PKD2 Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Functions as a calcium permeable cation channel. Defects in PKD2 are the cause of polycystic kidney disease autosomal dominant type 2 (ADPKD2). ADPKD2 is a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. ADPKD2 is clinically milder than ADPKD1 but it has a deleterious impact on overall life expectancy. Belongs to the polycystin family. 5 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Channel, cation; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 4q22.1
Cellular Component:  basal cortex; basal plasma membrane; cation channel complex; ciliary basal body; ciliary membrane; cilium; cytoplasm; cytoplasmic vesicle membrane; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; integral component of cytoplasmic side of endoplasmic reticulum membrane; integral component of lumenal side of endoplasmic reticulum membrane; integral component of plasma membrane; lamellipodium; mitotic spindle; motile cilium; non-motile cilium; plasma membrane; polycystin complex
Molecular Function:  actinin binding; ATPase binding; calcium ion binding; calcium-induced calcium release activity; cation channel activity; cytoskeletal protein binding; HLH domain binding; identical protein binding; ion channel binding; muscle alpha-actinin binding; outward rectifier potassium channel activity; phosphoprotein binding; potassium channel activity; protein binding; protein homodimerization activity; signaling receptor binding; voltage-gated calcium channel activity; voltage-gated cation channel activity; voltage-gated ion channel activity; voltage-gated potassium channel activity; voltage-gated sodium channel activity
Biological Process:  aorta development; branching involved in ureteric bud morphogenesis; calcium ion transmembrane transport; calcium ion transport; cell cycle arrest; cell-cell signaling by wnt; cellular response to calcium ion; cellular response to cAMP; cellular response to fluid shear stress; cellular response to hydrostatic pressure; cellular response to osmotic stress; cellular response to reactive oxygen species; centrosome duplication; cilium organization; cytoplasmic sequestering of transcription factor; detection of mechanical stimulus; detection of nodal flow; determination of left/right symmetry; determination of liver left/right asymmetry; embryonic placenta development; heart development; heart looping; inorganic cation transmembrane transport; JAK-STAT cascade; liver development; mesonephric duct development; mesonephric tubule development; metanephric ascending thin limb development; metanephric cortex development; metanephric cortical collecting duct development; metanephric distal tubule development; metanephric mesenchyme development; metanephric part of ureteric bud development; metanephric S-shaped body morphogenesis; metanephric smooth muscle tissue development; negative regulation of cell proliferation; negative regulation of G1/S transition of mitotic cell cycle; negative regulation of ryanodine-sensitive calcium-release channel activity; neural tube development; placenta blood vessel development; positive regulation of cell cycle arrest; positive regulation of cyclin-dependent protein serine/threonine kinase activity; positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; positive regulation of nitric oxide biosynthetic process; positive regulation of transcription by RNA polymerase II; potassium ion transmembrane transport; protein heterotetramerization; protein homotetramerization; protein tetramerization; regulation of calcium ion import; regulation of cell proliferation; release of sequestered calcium ion into cytosol; renal artery morphogenesis; renal tubule morphogenesis; sodium ion transmembrane transport; spinal cord development; Wnt signaling pathway
Disease: Polycystic Kidney Disease 2
Reference #:  Q13563 (UniProtKB)
Alt. Names/Synonyms: APKD2; Autosomal dominant polycystic kidney disease type II protein; MGC138466; MGC138468; Pc-2; PC2; PKD2; PKD4; polycystic kidney disease 2 (autosomal dominant); Polycystic kidney disease 2 protein; Polycystin-2; Polycystwin; R48321; transient receptor potential cation channel, subfamily P, member 2; TRPP2
Gene Symbols: PKD2
Molecular weight: 109,691 Da
Basal Isoelectric point: 5.49  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene