KCND2 Chromosome 7
Potassium voltage-gated channel subfamily D member 2
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What This Gene Does
Voltage-gated potassium (Kv) 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, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
7q31.31
Ensembl
ENSG00000184408
Associated Conditions (5)
Early myoclonic encephalopathy
Inborn genetic diseases
KCND2-related disorder
KCND2-related neurodevelopmental disorder
Neurodevelopmental disorder
Key Variants
RS144765242
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy
Health Risk
RS146220085
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, KCND2-related disorder, Inborn genetic diseases
Health Risk
RS35460901
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy
Health Risk
RS368783057
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy
Health Risk
RS773347530
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS1273708047
Likely pathogenic
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS2116146598
Likely pathogenic
Health Risk
RS2485192842
Likely pathogenic
Health Risk
RS1236737877
Pathogenic
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS1472234526
Pathogenic
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS587777631
Pathogenic
Early myoclonic encephalopathy, Inborn genetic diseases, KCND2-related neurodevelopmental disorder
Health Risk
RS1792826036
Pathogenic/Likely pathogenic
Early myoclonic encephalopathy, Neurodevelopmental disorder, KCND2-related neurodevelopmental disorder
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144765242 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy |
| RS146220085 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, KCND2-related disorder, Inborn genetic diseases |
| RS35460901 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy |
| RS368783057 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy |
| RS773347530 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS1273708047 | Health Risk | Likely pathogenic | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS2116146598 | Health Risk | Likely pathogenic | — |
| RS2485192842 | Health Risk | Likely pathogenic | — |
| RS1236737877 | Health Risk | Pathogenic | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS1472234526 | Health Risk | Pathogenic | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS587777631 | Health Risk | Pathogenic | Early myoclonic encephalopathy, Inborn genetic diseases, KCND2-related neurodevelopmental disorder |
| RS1792826036 | Health Risk | Pathogenic/Likely pathogenic | Early myoclonic encephalopathy, Neurodevelopmental disorder, KCND2-related neurodevelopmental disorder |
| RS750457269 | Health Risk | Pathogenic/Likely pathogenic | Early myoclonic encephalopathy, Inborn genetic diseases, Early myoclonic encephalopathy |