KCNA5

Chr 12

potassium voltage-gated channel subfamily A member 5

Also known as: ATFB7, HCK1, HK2, HPCN1, KV1.5, PCN1

NCBI Gene: 3741 ENSG00000130037 UniProt: P22460

KCNA5 encodes a voltage-gated potassium channel that forms tetrameric channels mediating potassium transport across excitable membranes and regulating membrane potential in cardiac and pancreatic cells. Mutations cause familial atrial fibrillation type 7, a cardiac arrhythmia disorder with autosomal dominant inheritance. The gene shows low constraint against loss-of-function variants (pLI 0.001, LOEUF 0.919), suggesting tolerance to heterozygous inactivation.

ResearchSummary from RefSeq, OMIM, UniProt

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…