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polycystin 2
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.
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| Protein type: Channel, cation; Membrane protein, integral |
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Cellular Component: endoplasmic reticulum membrane; nonmotile primary cilium; endoplasmic reticulum; integral to plasma membrane; intercellular junction; cilium; basal body; filamentous actin; lamellipodium; cytoplasm; basal plasma membrane; plasma membrane; motile primary cilium; basal cortex
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Molecular Function: voltage-gated cation channel activity; actinin binding; identical protein binding; protein homodimerization activity; voltage-gated ion channel activity; calcium ion binding; ATPase binding; voltage-gated calcium channel activity; calcium-induced calcium release activity; protein binding; potassium channel activity; cytoskeletal protein binding; voltage-gated sodium channel activity; HLH domain binding; receptor binding
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Biological Process: neural tube development; embryonic placenta development; cytoplasmic sequestering of transcription factor; positive regulation of inositol-1,4,5-triphosphate receptor activity; positive regulation of nitric oxide biosynthetic process; regulation of cAMP metabolic process; heart development; detection of mechanical stimulus; liver development; JAK-STAT cascade; G1/S-specific positive regulation of cyclin-dependent protein kinase activity; regulation of cell proliferation; negative regulation of cell proliferation; spinal cord development; ureteric bud branching; release of sequestered calcium ion into cytosol; calcium ion transport; positive regulation of transcription from RNA polymerase II promoter; cell cycle arrest; determination of left/right symmetry; centrosome duplication
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Reference #:
Q13563 (UniProtKB)
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| 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 |
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Molecular weight: 109,691 Da
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Basal Isoelectric point: 5.49
Predict pI for various phosphorylation states
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