KCNA5 Chromosome 12

Potassium voltage-gated channel subfamily A member 5
32 variants 32 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000130037
Associated Conditions (11)
Atrial fibrillation
familial
7
KCNA5-related disorder
Brugada syndrome 1
Inborn genetic diseases
Pulmonary arterial hypertension
altered potassium channel function
Pulmonary hypertension
primary
1
Key Variants
RS121908592
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS12720443
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS12720444
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS12720445
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS1415470235
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS144879674
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS145832242
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS147209278
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS148708451
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS149582940
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS1565465582
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 7
Health Risk
RS17215409
Conflicting classifications of pathogenicity
altered potassium channel function, Atrial fibrillation, familial
Health Risk
All Variants (32)
RSID Category Clinical Significance Conditions
RS121908592 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS12720443 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS12720444 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS12720445 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS1415470235 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS144879674 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS145832242 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS147209278 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS148708451 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS149582940 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS1565465582 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS17215409 Health Risk Conflicting classifications of pathogenicity altered potassium channel function, Atrial fibrillation, familial
RS17221812 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS201238766 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS201328038 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS201342234 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS202117321 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS35853292 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary, 1
RS369750762 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS370591031 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS377036305 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS745920419 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS755408841 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS760015626 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS760735058 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atrial fibrillation, familial
RS771735295 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS77281462 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS886049572 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS886049576 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 7
RS121908590 Health Risk Pathogenic Atrial fibrillation, familial, 7
RS121908593 Health Risk Pathogenic Atrial fibrillation, familial, 7
RS587777336 Health Risk Pathogenic Atrial fibrillation, familial, 7
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