KCNT2 Chromosome 1
Potassium sodium-activated channel subfamily T member 2
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What This Gene Does
Enables chloride-activated potassium channel activity and intracellular sodium-activated potassium channel activity. Involved in potassium ion export across plasma membrane. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 57. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Potassium sodium-activated channel subfamily T |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000162687
Associated Conditions (5)
Developmental and epileptic encephalopathy
57
KCNT2-related disorder
Inborn genetic diseases
Seizure
Key Variants
RS1035700995
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS148698179
Conflicting classifications of pathogenicity
KCNT2-related disorder, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS1572418357
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 57, Inborn genetic diseases
Health Risk
RS1572096837
Likely pathogenic
Seizure, Developmental and epileptic encephalopathy, 57
Health Risk
RS2147978696
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS2148151806
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS2148529666
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS2148537524
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS2527041400
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS2527113758
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS2528170263
Likely pathogenic
Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy
Health Risk
RS895837661
Likely pathogenic
KCNT2-related disorder, KCNT2-related disorder
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1035700995 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS148698179 | Health Risk | Conflicting classifications of pathogenicity | KCNT2-related disorder, Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1572418357 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 57, Inborn genetic diseases |
| RS1572096837 | Health Risk | Likely pathogenic | Seizure, Developmental and epileptic encephalopathy, 57 |
| RS2147978696 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS2148151806 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS2148529666 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS2148537524 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS2527041400 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS2527113758 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS2528170263 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |
| RS895837661 | Health Risk | Likely pathogenic | KCNT2-related disorder, KCNT2-related disorder |
| RS1060499537 | Health Risk | Pathogenic | KCNT2-related disorder, Developmental and epileptic encephalopathy, 57 |
| RS1572547466 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 57 |
| RS1572630269 | Health Risk | Pathogenic | Seizure, Developmental and epileptic encephalopathy, 57 |
| RS528303127 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 57, Developmental and epileptic encephalopathy |