Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3).
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.
Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health, Phoenix, AZ 85016, USA.
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J
Vaughn
J K
JK
Wolford
M
M
Prochazka
P A
PA
Permana
D020413:3' Untranslated Regions / Q000235:genetics; D000273:Adipose Tissue / Q000378:metabolism; D017398:Alternative Splicing / Q000235:genetics; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; D015698:Genomic Library; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007438:Introns; D008969:Molecular Sequence Data; D009928:Organ Specificity / Q000235:genetics; D010179:Pancreas / Q000378:metabolism; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000096:biosynthesis* / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
D020413:3' Untranslated Regions; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C497071:KCNJ9 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying