Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13)

Genomics. 1998 Dec 15;54(3):560-3. doi: 10.1006/geno.1998.5598.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Bartter Syndrome / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 2*
  • Cloning, Molecular
  • Heterozygote
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Mutation
  • Physical Chromosome Mapping
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Potassium Channels / genetics*
  • Potassium Channels, Inwardly Rectifying*

Substances

  • Potassium Channels
  • Potassium Channels, Inwardly Rectifying

Associated data

  • GENBANK/AF082182