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NCBI Gene PubMed Count 7
PubMed Score 0.00
PubTator Score 11.07

Knowledge Summary

Patent

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Gene RIF (6)

PMID Text
25885757 3.1% of thyrotoxic periodic paralysis cases had KCNJ18 gene mutations in mainland Chinese patients. Patients with KCNJ18 mutation had shorter attack duration, higher prevalence of muscle soreness and weakness recurrence than patients without the mutation.
25882930 KCNJ18 alterations are seldom pathogenic
22910584 TPP and SPP have the same susceptible gene variant rs623011 and may share the pathogenic mechanism of reduced Kir current in skeletal muscle independent of thyroid hormone.
21665951 suggest that decreased outward K(+) current from hypofunction of Kir2.6 predisposes the sarcolemma to hypokalemia-induced paradoxical depolarization during attacks, which in turn leads to Na(+) channel inactivation and inexcitability of muscles
21209095 Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
20074522 While sequencing candidate genes, we identified a previously unreported gene (not present in human sequence databases) that encodes an inwardly rectifying potassium (Kir) channel, Kir2.6.

AA Sequence

MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLAD      1 - 70
MFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIET     71 - 140
QTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLC    141 - 210
LMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPL    211 - 280
FGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYE    281 - 350
VPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGG    351 - 420
VLEQRPYRRGSEI                                                             421 - 433
//

Text Mined References (7)

PMID Year Title
25885757 2015 The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.
25882930 2016 Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
22910584 2012 Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.
21665951 2011 Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.
21209095 2011 Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
20074522 2010 Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.