Rabbit Anti-PKD2 Recombinant Antibody (D1A7) (CBMAB-CP1996-LY)

polycystic kidney disease 2 (autosomal dominant)

Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281).
Can also form a functional, homotetrameric ion channel (PubMed:29899465).
Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (PubMed:18695040).
Functions as outward-rectifying K+ channel, but is also permeable to Ca2+, and to a much lesser degree also to Na+ (PubMed:11854751, PubMed:15692563, PubMed:27071085, PubMed:27991905).
May contribute to the release of Ca2+ stores from the endoplasmic reticulum (PubMed:11854751, PubMed:20881056).
Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040).
PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. 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. Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Detection of asymmetric nodal flow gives rise to a Ca2+ signal that is required for normal, asymmetric expression of genes involved in the specification of body left-right laterality (By similarity).

Aorta developmentManual Assertion Based On ExperimentIEP:UniProtKB
Branching involved in ureteric bud morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Calcium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Calcium ion transportManual Assertion Based On ExperimentIDA:BHF-UCL
Cell-cell signaling by wntManual Assertion Based On ExperimentIDA:UniProtKB
Cellular response to calcium ionISS:UniProtKB
Cellular response to cAMPManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to fluid shear stressManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular response to hydrostatic pressureManual Assertion Based On ExperimentIDA:BHF-UCL
Cellular response to osmotic stressManual Assertion Based On ExperimentIDA:BHF-UCL
Cellular response to reactive oxygen species1 PublicationNAS:BHF-UCL
Centrosome duplication1 PublicationNAS:BHF-UCL
Cilium organizationManual Assertion Based On ExperimentIMP:MGI
Cytoplasmic sequestering of transcription factorManual Assertion Based On ExperimentIMP:BHF-UCL
Detection of mechanical stimulusISS:BHF-UCL
Detection of nodal flowISS:BHF-UCL
Determination of left/right symmetryISS:BHF-UCL
Determination of liver left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Embryonic placenta developmentISS:BHF-UCL
Heart developmentManual Assertion Based On ExperimentIEP:UniProtKB
Heart loopingManual Assertion Based On ExperimentIMP:BHF-UCL
Inorganic cation transmembrane transportManual Assertion Based On ExperimentIMP:UniProtKB
Liver developmentManual Assertion Based On ExperimentIEP:UniProtKB
Mesonephric duct developmentManual Assertion Based On ExperimentIEP:UniProtKB
Mesonephric tubule developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric ascending thin limb developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric cortex developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric cortical collecting duct developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric distal tubule developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric mesenchyme developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric part of ureteric bud developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric S-shaped body morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric smooth muscle tissue developmentManual Assertion Based On ExperimentIEP:UniProtKB
Negative regulation of cell population proliferation1 PublicationNAS:BHF-UCL
Negative regulation of G1/S transition of mitotic cell cycleManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of ryanodine-sensitive calcium-release channel activityISS:BHF-UCL
Neural tube developmentManual Assertion Based On ExperimentIEP:UniProtKB
Placenta blood vessel developmentISS:BHF-UCL
Positive regulation of cyclin-dependent protein serine/threonine kinase activityManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of gene expressionIEA:Ensembl
Positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activityManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of nitric oxide biosynthetic processManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Protein heterotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Protein homotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Protein tetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Receptor signaling pathway via JAK-STATISS:BHF-UCL
Regulation of calcium ion importManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of cell cycleISS:BHF-UCL
Regulation of cell population proliferationManual Assertion Based On ExperimentIMP:BHF-UCL
Release of sequestered calcium ion into cytosolManual Assertion Based On ExperimentIDA:BHF-UCL
Renal artery morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Renal tubule morphogenesisISS:BHF-UCL
Sodium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Spinal cord developmentManual Assertion Based On ExperimentIEP:UniProtKB
Wnt signaling pathwayIEA:UniProtKB-KW

Cell projection, cilium membrane
Endoplasmic reticulum membrane
Cell membrane
Basolateral cell membrane
Cytoplasmic vesicle membrane
Golgi apparatus
PKD2 localization to the plasma and ciliary membranes requires PKD1. PKD1:PKD2 interaction is required to reach the Golgi apparatus form endoplasmic reticulum and then traffic to the cilia (By similarity).
Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563).
Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959).
Cell surface and cilium localization requires GANAB (PubMed:27259053).

Polycystic kidney disease 2 with or without polycystic liver disease (PKD2):
An autosomal dominant 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. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy.

Cytoplasmic: 1-219
Helical: 220-241
Extracellular: 242-468
Helical: 469-489
Cytoplasmic: 490-505
Helical: 506-526
Extracellular: 527-552
Helical: 553-573
Cytoplasmic: 574-597
Helical: 598-619
Extracellular: 620-631
Helical: 632-646
Cytoplasmic: 647-654
Helical: 655-675
Extracellular: 676-968

Phosphorylated. Phosphorylation is important for protein function; a mutant that lacks the N-terminal phosphorylation sites cannot complement a zebrafish pkd2-deficient mutant (PubMed:16551655).
PKD-mediated phosphorylation at the C-terminus regulates its function in the release of Ca2+ stores from the endoplasmic reticulum (PubMed:20881056).
PKA-mediated phosphorylation at a C-terminal site strongly increases the open probability of the channel, but does not increase single channel conductance (PubMed:26269590).
N-glycosylated. The four subunits in a tetramer probably differ in the extent of glycosylation; simultaneous glycosylation of all experimentally validated sites would probably create steric hindrance. Thus, glycosylation at Asn-305 is not compatible with glycosylation at Asn-328; only one of these two residues is glycosylated at a given time.