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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNT2
potassium sodium-activated channel subfamily T member 2
Chromosome 1 Β· 1q31.3
NCBI Gene: 343450Ensembl: ENSG00000162687.19HGNC: HGNC:18866UniProt: A0A3B3IRL4
27PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular sodium-activated potassium channel activitypotassium ion export across plasma membraneprotein bindingchloride-activated potassium channel activitygenetic developmental and epileptic encephalopathyage-related macular degenerationmacular degenerationdegeneration of macula and posterior pole
✦AI Summary

KCNT2 encodes a sodium-activated and chloride-activated potassium channel that produces rapidly activating outward rectifier K+ currents 1. The channel contributes to regulating neuronal excitability 2 through its activity at the plasma membrane. Functionally, KCNT2 localizes to intracellular compartments where it mediates potassium ion transport and chloride-activated potassium channel activity. Pathogenic KCNT2 variants cause developmental and epileptic encephalopathy 57 (DEE57), characterized by intellectual disability (ranging from mild to severe/profound), early-onset seizures, altered muscle tone, and dysmorphic features 3. Variants exhibit either gain-of-function (GoF) or loss-of-function (LoF) mechanisms, each with distinct pharmacological profiles: quinidine and fluoxetine block GoF variants, while loxapine and riluzole selectively activate or block LoF variants 3. Recent genome-wide association studies identified KCNT2 as genetically associated with neuropathic pain intensity in diabetic polyneuropathy 4. Furthermore, KCNT2 knockout mice demonstrate increased neuronal excitability and enhanced seizure susceptibility, suggesting the channel provides neuroprotection 5. The discovery of variant-specific functional properties underscores the clinical importance of in vitro functional assessment to enable targeted, mechanism-based therapeutic approaches for KCNT2-related disorders.

Sources cited
1
KCNT2 produces rapidly activating outward rectifier K+ currents
PMID: 14684870
2
KCNT2 contributes to regulate neuronal excitability
PMID: 29069600
3
KCNT2 variants cause DEE57 with intellectual disability, epilepsy, muscle tone alterations, and dysmorphisms; variants show GoF or LoF features with distinct pharmacological profiles (quinidine/fluoxetine block GoF; loxapine/riluzole affect LoF variants)
PMID: 37062836
4
KCNT2 locus is genetically associated with neuropathic pain intensity in diabetic polyneuropathy
PMID: 39471050
5
Kcnt2-/- mice show increased neuronal excitability and enhanced seizure susceptibility, indicating KCNT2 provides neuroprotection
PMID: 37875713
Disease Associationsβ“˜21
genetic developmental and epileptic encephalopathyOpen Targets
0.54Moderate
age-related macular degenerationOpen Targets
0.46Moderate
macular degenerationOpen Targets
0.43Moderate
degeneration of macula and posterior poleOpen Targets
0.41Moderate
SeizureOpen Targets
0.41Moderate
retinopathyOpen Targets
0.37Weak
epilepsyOpen Targets
0.37Weak
wet macular degenerationOpen Targets
0.33Weak
acquired thrombocytopeniaOpen Targets
0.32Weak
kidney transplantOpen Targets
0.31Weak
dry age related macular degenerationOpen Targets
0.30Weak
heart diseaseOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.28Weak
hypotensionOpen Targets
0.27Weak
adolescent idiopathic scoliosisOpen Targets
0.26Weak
liver diseaseOpen Targets
0.26Weak
Respiratory insufficiencyOpen Targets
0.25Weak
disorder of earOpen Targets
0.24Weak
premature birthOpen Targets
0.24Weak
disorder of visual systemOpen Targets
0.23Weak
Developmental and epileptic encephalopathy 57UniProt
Pathogenic Variants15
NM_198503.5(KCNT2):c.143_144del (p.Leu48fs)Pathogenic
Seizure|Developmental and epileptic encephalopathy, 57
β˜…β˜…β˜†β˜†2019β†’ Residue 48
NM_198503.5(KCNT2):c.1244del (p.Leu415fs)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2026β†’ Residue 415
NM_198503.5(KCNT2):c.592C>G (p.Gln198Glu)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 198
NM_198503.5(KCNT2):c.2836A>T (p.Lys946Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2024β†’ Residue 946
NM_198503.5(KCNT2):c.800T>A (p.Leu267His)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2024β†’ Residue 267
NM_198503.5(KCNT2):c.1667C>T (p.Thr556Ile)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2022β†’ Residue 556
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2022β†’ Residue 305
NM_198503.5(KCNT2):c.175+1G>TLikely pathogenic
KCNT2-related disorder
β˜…β˜†β˜†β˜†2022
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro)Pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2021β†’ Residue 190
NM_198503.5(KCNT2):c.2501_2507del (p.Ser834fs)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2021β†’ Residue 834
NM_198503.5(KCNT2):c.1096A>G (p.Lys366Glu)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2021β†’ Residue 366
NM_198503.5(KCNT2):c.1690A>T (p.Lys564Ter)Likely pathogenic
Seizure|Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2019β†’ Residue 564
NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu)Pathogenic
KCNT2-related disorder|Developmental and epileptic encephalopathy, 57
β˜…β˜†β˜†β˜†2016β†’ Residue 240
NM_198503.5(KCNT2):c.560C>A (p.Ala187Asp)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†β†’ Residue 187
NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs)Likely pathogenic
Developmental and epileptic encephalopathy, 57
β˜†β˜†β˜†β˜†β†’ Residue 578
View on ClinVar β†—
Related Genes
KCNK5Shared pathway75%KCNK18Shared pathway75%KCNK17Shared pathway67%KCNK7Shared pathway67%KCNN3Shared pathway67%KCNU1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Liver
75%
Heart
24%
Brain
17%
Lung
11%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KCNT2KCNK5KCNK18KCNK17KCNK7KCNN3KCNU1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6UVM3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.54 [0.40–0.74]
RankingsWhere KCNT2 stands among ~20K protein-coding genes
  • #12,587of 20,598
    Most Researched27
  • #2,483of 5,498
    Most Pathogenic Variants15
  • #5,870of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedKCNT2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
PMID: 37062836
Ann Neurol Β· 2023
1.00
2
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes Ξ²-cell subpopulations with dynamic transcriptome profiles.
PMID: 37127706
Genome Med Β· 2023
0.90
3
Genetics of epilepsy.
PMID: 29478594
Handb Clin Neurol Β· 2018
0.80
4
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort.
PMID: 39471050
Pain Β· 2025
0.70
5
New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
PMID: 32931186
Acta Biochim Pol Β· 2020
0.60