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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; cilium; cytoplasm; cytoplasmic vesicle membrane; endoplasmic reticulum; endoplasmic reticulum membrane; filamentous actin; integral component of plasma membrane; intercellular junction; lamellipodium; plasma membrane
Molecular Function: actinin binding; ATPase binding; calcium ion binding; calcium-induced calcium release activity; cytoskeletal protein binding; HLH domain binding; identical protein binding; muscle alpha-actinin binding; outward rectifier potassium channel activity; phosphoprotein binding; potassium channel activity; protein binding; protein homodimerization activity; 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: branching involved in ureteric bud morphogenesis; calcium ion transport; cell cycle arrest; centrosome duplication; cytoplasmic sequestering of transcription factor; detection of mechanical stimulus; determination of left/right symmetry; embryonic placenta development; heart development; heart looping; JAK-STAT cascade; liver development; negative regulation of cell proliferation; neural tube development; positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle; positive regulation of inositol-1,4,5-triphosphate receptor activity; positive regulation of nitric oxide biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; protein homotetramerization; regulation of cAMP metabolic process; regulation of cell proliferation; regulation of postsynaptic membrane potential; release of sequestered calcium ion into cytosol; spinal cord development
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
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