PKD2

Cilia effects upon perturbation of PKD2

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

polycystic kidney disease 2; Polycystic Kidney Disease; Autosomal dominant polycystic kidney disease; chronic kidney disease; kidney disease; cystic kidney disease; Genetic renal or urinary tract malformation; kidney failure; Meckel syndrome; cystic liver disease; Acute kidney injury; Renal insufficiency; Genetic visceral malformation of the liver, biliary tract, pancreas or spleen

Ciliopathy associations

• Autosomal Dominant Polycystic Kidney Disease
• Autosomal Recessive Polycystic Kidney Disease
• Polycystic Kidney Disease

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Cardiac & muscle development

Function

Also known as PC2. Mutation causes autosomal domi nt PKD. Dimerizes with PKD1 to form a channel in the ciliary membrane (20392267) and mediate transduction of an extracellular mechanical stimulus into a Ca2+ sig ling response involved in the differentiation of kidney tubular epithelial cells (12514735, 26788466). PC2 enhances calcium release from the ER by stimulating the activity of the IP3 receptor (26788466). Required for the asymmetric localization of Vangl2 and involved in the establishment of the asymmetric positioning of pla r cell polarity proteins (26245976).