KCNS2

Chr 8

potassium voltage-gated channel modifier subfamily S member 2

Also known as: KV9.2

NCBI Gene: 3788 ENSG00000156486 UniProt: Q9ULS6 OMIM: 602906

The KCNS2 protein is a regulatory subunit that modulates delayed rectifier voltage-gated potassium channels by altering their kinetics and voltage dependencies, forming functional heterotetrameric channels with KCNB1 and KCNB2. Mutations cause autosomal dominant epileptic encephalopathy with onset typically in infancy or early childhood. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.77), suggesting some resilience to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable potassium channel regulator activity. Predicted to be involved in action potential; potassium ion transmembrane transport; and regulation of potassium ion transmembrane transport. Predicted to be located in perinuclear region of cytoplasm and plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in membrane. Implicated in essential tremor. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.77

LOEUF

Multiple*

Mechanism· predicted