Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3).

Article Details


Vaughn J, Wolford JK, Prochazka M, Permana PA

Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3).

Biochem Biophys Res Commun. 2000 Aug 2;274(2):302-9.

PubMed ID
10913335 [ View in PubMed

The human KCNJ9 (Kir 3.3, GIRK3) is a member of the G-protein-activated inwardly rectifying potassium (GIRK) channel family. Here we describe the genomic organization of the KCNJ9 locus on chromosome 1q21-23 as a candidate gene for Type II diabetes mellitus in the Pima Indian population. The gene spans approximately 7.6 kb and contains one noncoding and two coding exons separated by approximately 2.2 and approximately 2.6 kb introns, respectively. We identified 14 single nucleotide polymorphisms (SNPs), including one that predicts a Val366Ala substitution, and an 8 base-pair (bp) insertion/deletion. Our expression studies revealed the presence of the transcript in various human tissues including pancreas, and two major insulin-responsive tissues: fat and skeletal muscle. The characterization of the KCNJ9 gene should facilitate further studies on the function of the KCNJ9 protein and allow evaluation of the potential role of the locus in Type II diabetes.

DrugBank Data that Cites this Article

NameUniProt ID
G protein-activated inward rectifier potassium channel 3Q92806Details