potassium voltage-gated channel subfamily A member 5
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Moderate Evidence (Amber)
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalFamilial Meniere Disease
Pulmonary arterial hypertension
Unknownfamilial atrial fibrillation
multiple sclerosis
Lambert-Eaton myasthenic syndrome
myasthenia gravis
atrial fibrillation
cardiac arrhythmia
congenital myasthenic syndrome
Congenital myasthenic syndromes
Muscle weakness
neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Potassium voltage-gated channel subfamily A member 5
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:12130714, PubMed:8505626). Required for normal electrical conduction including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with XIRP2 (By similarity). May play a role in regulating the secretion of insulin in normal pancreatic islets
KCNA5 · P22460
Mean pLDDT
71.1/ 100
Confident
613 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
