KCNT2

Chr 1AD

potassium sodium-activated channel subfamily T member 2

Also known as: DEE57, EIEE57, KCa4.2, KNa1.2, SLICK, SLO2.1

NCBI Gene: 343450 ENSG00000162687 UniProt: Q6UVM3 OMIM: 610044

The protein functions as a sodium-activated and chloride-activated potassium channel that regulates neuronal excitability by producing outward rectifier K+ currents across the plasma membrane. Mutations cause developmental and epileptic encephalopathy 57, characterized by early-onset seizures and developmental delays. The condition follows autosomal dominant inheritance, and the gene is highly constrained against loss-of-function variants (LOEUF 0.374).

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 57MIM #617771

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.37

LOEUF

GOF

Mechanism· G2P

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GeneReview available — KCNT2