Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approach revealed a single 2088-bp intron in the coding region of KCNJ13. PCR analysis of monochromosomal and radiation hybrid panels assigns KCNJ13 to band 2q37 between markers D2S331 and D2S345. In addition, a single nucleotide polymorphism (C524-->T), leading to an exchange of a Thr with an Ile residue at amino acid position 175, was found.
Derst
C
C
Institute for Normal and Pathological Physiology, University of Marburg, Marburg, 35033, Germany. derst2@mailer.uni-marburg.de
Döring
F
F
Preisig-Müller
R
R
Daut
J
J
Karschin
A
A
Jeck
N
N
Weber
S
S
Engel
H
H
Grzeschik
K H
KH
D000595:Amino Acid Sequence; D000818:Animals; D001477:Bartter Syndrome / Q000235:genetics*; D001483:Base Sequence; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D006579:Heterozygote; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D009154:Mutation; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying
D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying