PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
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.
Mochizuki
T
T
Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Wu
G
G
Hayashi
T
T
Xenophontos
S L
SL
Veldhuisen
B
B
Saris
J J
JJ
Reynolds
D M
DM
Cai
Y
Y
Gabow
P A
PA
Pierides
A
A
Kimberling
W J
WJ
Breuning
M H
MH
Deltas
C C
CC
Peters
D J
DJ
Somlo
S
S
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
D015220:Calcium Channels; D008565:Membrane Proteins; D011506:Proteins; D015222:Sodium Channels; D050396:TRPP Cation Channels