Polycystin-2 (PKD2) ELISA Kit for Human

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]

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.

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; extracellular exosome; filamentous actin; integral component of cytoplasmic side of endoplasmic reticulum membrane; integral component of lumenal side of endoplasmic reticulum membrane; 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; ion channel 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; 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; 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; 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 S-shaped body morphogenesis; metanephric smooth muscle tissue development; negative regulation of cell proliferation; negative regulation of G1/S transition of mitotic cell cycle; neural tube development; positive regulation of cell cycle arrest; 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; potassium ion transmembrane transport; protein homotetramerization; regulation of calcium ion import; regulation of cAMP metabolic process; regulation of cell proliferation; release of sequestered calcium ion into cytosol; spinal cord development

Disease: Polycystic Kidney Disease 2