KCNA2 Chromosome 1

Potassium voltage-gated channel subfamily A member 2
66 variants 66 Health Risk

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What This Gene Does
Potassium channels represent the most complex class of voltage-gated ion 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, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000177301
Associated Conditions (13)
Developmental and epileptic encephalopathy
32
Inborn genetic diseases
See cases
Seizure
KCNA2-related disorder
Autism spectrum disorder
Global developmental delay
Neurodevelopmental disorder
1
Complex neurodevelopmental disorder
KCN2A-related disorder
Intellectual disability
Key Variants
RS1243868138
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
Health Risk
RS1553181398
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS1570753974
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS1649457143
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS1649513909
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS200107528
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 32
Health Risk
RS2101396495
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
Health Risk
RS2101398407
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, See cases
Health Risk
RS2101399466
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
RS2524621109
Conflicting classifications of pathogenicity
Seizure, Developmental and epileptic encephalopathy, 32
Health Risk
RS371979518
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
Health Risk
RS746926057
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
Health Risk
All Variants (66)
RSID Category Clinical Significance Conditions
RS1243868138 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS1553181398 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1570753974 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1649457143 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1649513909 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS200107528 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 32
RS2101396495 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS2101398407 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, See cases
RS2101399466 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524621109 Health Risk Conflicting classifications of pathogenicity Seizure, Developmental and epileptic encephalopathy, 32
RS371979518 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS746926057 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS752985457 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS753829876 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Inborn genetic diseases
RS756992381 Health Risk Conflicting classifications of pathogenicity —
RS763353895 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Seizure
RS770338663 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32, Autism spectrum disorder
RS1057523703 Health Risk Likely pathogenic —
RS1085307768 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1131691974 Health Risk Likely pathogenic —
RS1342073847 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS1553181323 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1553181370 Health Risk Likely pathogenic Seizure, Seizure
RS1557731896 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1570752696 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1649470988 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2101396443 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2101397006 Health Risk Likely pathogenic —
RS2101398625 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2101403658 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524617586 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524620540 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524620795 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS764822052 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy
RS886041761 Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy, 32
RS1064794738 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, KCN2A-related disorder
RS1131691939 Health Risk Pathogenic —
RS1553181280 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS1570753525 Health Risk Pathogenic Intellectual disability, Seizure, Intellectual disability
RS1649473972 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2101396713 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2101398595 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2101399429 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524607838 Health Risk Pathogenic —
RS2524616375 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524617464 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524617930 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524618913 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524619322 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
RS2524619990 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32, Developmental and epileptic encephalopathy
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