KCNA3 Chromosome 1
Potassium voltage-gated channel subfamily A member 3
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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. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes 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
ENSG00000177272
Associated Conditions (3)
KCNA3-associated developmental and epileptic encephalopathy
KCNA3-associated disorder
Neurodevelopmental disorder
Key Variants
RS2100949783
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524760741
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761160
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761170
Likely pathogenic
KCNA3-associated disorder, KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated disorder
Health Risk
RS2524761189
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761194
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761198
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761275
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761374
Likely pathogenic
Neurodevelopmental disorder, KCNA3-associated developmental and epileptic encephalopathy, Neurodevelopmental disorder
Health Risk
RS2524761478
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761872
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
RS2524761885
Likely pathogenic
KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2100949783 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524760741 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761160 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761170 | Health Risk | Likely pathogenic | KCNA3-associated disorder, KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated disorder |
| RS2524761189 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761194 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761198 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761275 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761374 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, KCNA3-associated developmental and epileptic encephalopathy, Neurodevelopmental disorder |
| RS2524761478 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761872 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS2524761885 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |
| RS763208216 | Health Risk | Likely pathogenic | KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy |