1999
Identification and Characterization of Polycystin-2, thePKD2 Gene Product*
Cai Y, Maeda Y, Cedzich A, Torres V, Wu G, Hayashi T, Mochizuki T, Park J, Witzgall R, Somlo S. Identification and Characterization of Polycystin-2, thePKD2 Gene Product*. Journal Of Biological Chemistry 1999, 274: 28557-28565. PMID: 10497221, DOI: 10.1074/jbc.274.40.28557.Peer-Reviewed Original ResearchConceptsEndoplasmic reticulum localizationPolycystin-2Gene productsPutative phosphorylation sitesProtein binding partnersProtein disulfide isomerasePKD2 gene productImmunofluorescent cell stainingIntegral membrane glycoproteinSubcellular fractionation studiesAutosomal dominant polycystic kidney diseaseEndo H resistanceGolgi proteinsPhosphorylation sitesSecond geneBinding partnerTruncation mutantsTranslation productsPlasma membraneHigh-mannose oligosaccharidesAcid regionEndoplasmic reticulumIntact cellsH resistanceMembrane glycoproteins
1996
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Mochizuki T, Wu G, Hayashi T, Xenophontos S, Veldhuisen B, Saris J, Reynolds D, Cai Y, Gabow P, Pierides A, Kimberling W, Breuning M, Deltas C, Peters D, Somlo S. PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein. Science 1996, 272: 1339-1342. PMID: 8650545, DOI: 10.1126/science.272.5266.1339.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceCaenorhabditis elegansCalcium ChannelsChromosome MappingChromosomes, Human, Pair 4Cloning, MolecularConsensus SequenceCrystallography, X-RayFemaleGlycosylationHumansMaleMembrane ProteinsMolecular Sequence DataMutationPedigreePhenotypePolycystic Kidney, Autosomal DominantPolymorphism, Single-Stranded ConformationalProteinsSodium ChannelsTRPP Cation ChannelsConceptsCaenorhabditis elegans homologIntegral membrane proteinsAmino acid similarityPKD2 gene productCalcium-binding domainPKD2 proteinTransmembrane spansPolycystic kidney diseasePositional cloningPotential calcium-binding domainsSecond geneMembrane proteinsGene productsAcid sequenceIntracellular aminoNonsense mutationGenesAutosomal dominant polycystic kidney diseasePKD1Dominant polycystic kidney diseasePKD2 familiesProteinVoltage-activated calcium channelsHomologCalcium channels