This gene encodes a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a number of contiguous genes, which are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. This gene is also imprinted, with preferential expression from the maternal allele in some tissues, excluding cardiac muscle. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq].
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