GENETIC ENCYCLOPEDIA
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gene: KCNJ2

id3759
symbolKCNJ2
organismHomo sapiens
full namepotassium voltage-gated channel subfamily J member 2
summaryPotassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
variant-disease

NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu) AND Andersen Tawil syndrome

NM_000891.2(KCNJ2):c.660C>T (p.Ser220=) AND Cardiac arrhythmia

NM_000891.2(KCNJ2):c.*2277C>T AND Familial atrial fibrillation

NM_000891.2(KCNJ2):c.*1719_*1721dupTTT AND Andersen Tawil syndrome

NM_000891.2(KCNJ2):c.*1267A>G AND Andersen Tawil syndrome

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