Recombinant Human ATP-sensitive inward rectifier potassium channel 8 (KCNJ8)

1. KCNJ8-S422L as pathogenic for J-wave syndromes failed to appropriately account for European population structure and the variant is likely benign, or (b) Ashkenazi Jews may be at significantly increased risk of J-wave syndromes PMID: 23632791
2. We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity. PMID: 24700710
3. KATP channels are up-regulated with increasing age in human myometrium PMID: 23369859
4. Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression. PMID: 22406554
5. The KCNJ8-S422L variant was shown to be associated with both increased susceptibility to atrial fibrillation and early repolarization. PMID: 22562657
6. results suggest that acting on the 3'-UTR of Kir6.1 and the coding region of SUR2B, methylglyoxal causes instability of Kir6.1 and SUR2B mRNAs, disruption of vascular K(ATP) channels, and impairment of arterial function PMID: 22972803
7. Data suggest that Kir6.1 and M3 muscarinic receptor colocalize to detrusor caveolae; studies include tissue from both male and female subjects. PMID: 22410194
8. The researchers report evidence that the KCNJ8 gene increases susceptiblity to the brugada syndrome and early repolarization syndrome. PMID: 22056721
9. The mutations localized to Kir6.1's C-terminus, involved conserved residues and the pinacidil-activated K(ATP) current was decreased 45% to 68% for Kir6.1-E332del and 40% to 57% for V346I between -20 mV and 40 mV. PMID: 21836131
10. Down-regulation of Kir6.1 and Kir6.2 expression in myometrium may contribute to the enhanced uterine contractility associated with the onset of labour. PMID: 21418633
11. Interaction with caveolin-1 causes a shift the channel's sensitivity to its physiological regulator magnesium ADP (MgADP). PMID: 20624795
12. These findings further implicate KCNJ8 as a novel J-wave syndrome susceptibility gene and a marked gain of function in the cardiac K(ATP) Kir6.1 channel secondary to KCNJ8-S422L as a novel pathogenic mechanism for J-wave syndromes. PMID: 20558321
13. mammalian oocytes express K(ATP) channels. PMID: 20847183
14. sequence variants in KCNJ8 is unlikely to contribute to variation in postural change in systolic blood pressure PMID: 19952277
15. Lipopolysaccharides up-regulate Kir6.1/SUR2B channel expression and enhance vascular KATP channel activity via NF-kappaB-dependent signaling PMID: 19959479
16. Assembly limits the pharmacological complexity of ATP-sensitive potassium channels PMID: 11825905
17. cGMP/PKG-dependent processes participate in activating the ATP-regulated K(+) channel PMID: 12217870
18. down-regulation of this channel may facilitate myometrial function during late pregnancy PMID: 12356945
19. In corporal smooth muscle is composed of Kir6.1-Kir6.2 construct expressed with SUR2B.K(ATP) channel in corporal smooth muscle cells is composed of heteromultimers of Kir6.1 and Kir6.2 with the ratio of 3 : 1 or 4 : 0 and SUR2B. PMID: 12934053
20. Kir6.1/KCNJ8 hasa a role in the pathogenesis of impaired coronary vasomotility that varies among various ethnic groups PMID: 12964027
21. The effect of nicotine on Kir6.1 channels is mediated by the production of superoxides. PMID: 15821440
22. Results describe a new function of the Kir6.1-SUR2A complex, namely the regulation of paracellular permeability through tight junctions. PMID: 16820413
23. Results indicate that abnormality in the primary structure of Kir6.1 may not be involved in the genetic pathogenesis of coronary spastic angina. PMID: 16964409
24. caveolin-dependent internalization is involved in PKC-epsilon-mediated inhibition of vascular K(ATP) channels (Kir6.1 and SUR2B) by phorbol 12-myristate 13-acetate or angiotensin II PMID: 18663158
25. Kir6.1/SUR2B is the major functional K(ATP) channel complex in the pig MMA and MCA, and mRNA expression studies suggest that the human MMA shares this K(ATP) channel subunit profile PMID: 18996111
26. Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1. PMID: 19139106

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HGNC: 6269

OMIM: 239850

KEGG: hsa:3764

STRING: 9606.ENSP00000240662

UniGene: Hs.102308