Disease relevance of KCNJ9

• 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 [1].
• Analysis of linkage disequilibrium between polymorphisms in the KCNJ9 gene with type 2 diabetes mellitus in Pima Indians [2].

High impact information on KCNJ9

• Complexes containing only GIRK2 and GIRK3 could be immunoprecipitated from transfected cells and could be purified from native brain tissue [3].
• The PEA15 locus is composed of four exons spanning approximately 10.2kb of genomic DNA, flanked upstream by an potentially expressed Alu element, downstream by the H326 gene, and is located within 250kb of KCNJ9 [4].
• Transcripts for Kir3.3 and Kir3.4 were not detected in the same preparations [5].
• Assignment of human G-protein-coupled inward rectifier K+ channel homolog GIRK3 gene to chromosome 1q21-q23 [6].
• High-ranking candidate genes in this susceptibility region include KCNJ9, KCNJ10 and ATP1A2 [7].

Biological context of KCNJ9

• The KCNJ9 gene encodes a G-protein-coupled inwardly rectifying potassium channel and is located within a region on human chromosome 1 that has been linked with type 2 diabetes mellitus in Pima Indians and Caucasians [2].

Anatomical context of KCNJ9

• The functional aspects of GIRK3 were reinvestigated by expression in CHO cells [8].
• However, the homologous mouse brain GIRK3 clone failed to express in the earliest reported functional experiments in Xenopus oocytes [8].

References