title: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
abstract: A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.
authors.affiliation: Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
authors.forename: T
authors.initials: T
authors.lastname: Mochizuki
authors.forename: G
authors.initials: G
authors.lastname: Wu
authors.forename: T
authors.initials: T
authors.lastname: Hayashi
authors.forename: S L
authors.initials: SL
authors.lastname: Xenophontos
authors.forename: B
authors.initials: B
authors.lastname: Veldhuisen
authors.forename: J J
authors.initials: JJ
authors.lastname: Saris
authors.forename: D M
authors.initials: DM
authors.lastname: Reynolds
authors.forename: Y
authors.initials: Y
authors.lastname: Cai
authors.forename: P A
authors.initials: PA
authors.lastname: Gabow
authors.forename: A
authors.initials: A
authors.lastname: Pierides
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: C C
authors.initials: CC
authors.lastname: Deltas
authors.forename: D J
authors.initials: DJ
authors.lastname: Peters
authors.forename: S
authors.initials: S
authors.lastname: Somlo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017173:Caenorhabditis elegans / Q000737:chemistry / Q000235:genetics; D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D016384:Consensus Sequence; D018360:Crystallography, X-Ray; D005260:Female; D006031:Glycosylation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000737:chemistry / Q000235:genetics; D015222:Sodium Channels / Q000737:chemistry / Q000235:genetics; D050396:TRPP Cation Channels
chemical_list: D015220:Calcium Channels; D008565:Membrane Proteins; D011506:Proteins; D015222:Sodium Channels; D050396:TRPP Cation Channels