Property Summary

NCBI Gene PubMed Count 45
Grant Count 61
R01 Count 36
Funding $9,603,647.03
PubMed Score 186.59
PubTator Score 107.48

Knowledge Summary

Patent (2,426)

Expression

Gene RIF (28)

PMID Text
24700710 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.
23632791 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
23369859 KATP channels are up-regulated with increasing age in human myometrium
22972803 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
22562657 The KCNJ8-S422L variant was shown to be associated with both increased susceptibility to atrial fibrillation and early repolarization.
22410194 Data suggest that Kir6.1 and M3 muscarinic receptor colocalize to detrusor caveolae; studies include tissue from both male and female subjects.
22406554 Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression.
22056721 The researchers report evidence that the KCNJ8 gene increases susceptiblity to the brugada syndrome and early repolarization syndrome.
21836131 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.
21418633 Down-regulation of Kir6.1 and Kir6.2 expression in myometrium may contribute to the enhanced uterine contractility associated with the onset of labour.
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AA Sequence

MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWR      1 - 70
HTLVIFTMSFLCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVT     71 - 140
IGFGGRMMTEECPLAITVLILQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMF    141 - 210
RVGDLRKSMIISASVRIQVVKKTTTPEGEVVPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDI    211 - 280
SATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQWGHRFVSIVTEEEGVYSVDYSKFGNTVKVAA    281 - 350
PRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSMRRNNSIRRNNSSLMVPKVQFMTPEGNQN    351 - 420
TSES                                                                      421 - 424
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Text Mined References (44)

PMID Year Title
24700710 2014 Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
23632791 2014 The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.
23369859 2013 KATP channels are up-regulated with increasing age in human myometrium.
22972803 2012 Prolonged exposure to methylglyoxal causes disruption of vascular KATP channel by mRNA instability.
22562657 2012 A KCNJ8 mutation associated with early repolarization and atrial fibrillation.
22410194 2012 Association of muscarinic M? receptors and Kir6.1 with caveolae in human detrusor muscle.
22406554 2012 K+ channels regulate ENaC expression via changes in promoter activity and control fluid clearance in alveolar epithelial cells.
22056721 2012 Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.
21836131 2011 Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.
21418633 2011 Expression of ATP-sensitive potassium channels in human pregnant myometrium.
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