C. Derst et al., Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (K(ir)7.1) gene (KCNJ13), GENOMICS, 54(3), 1998, pp. 560-563
The novel weakly inward rectifying potassium channel K(ir)7.1 is a low-cond
uctance channel that is predominantly expressed in epithelial cells. Here w
e describe a partial genomic characterization and the chromosomal assignmen
t of the human K(ir)7.1 gene (KCNJ13). Analysis of the genomic structure us
ing a PCR-based approach revealed a single 2088-bp intron in the coding reg
ion 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 T
hr with an ne residue at amino acid position 175, was found. (C) 1998 Acade
mic Press.