KCNH3

Chr 12

potassium voltage-gated channel subfamily H member 3

Also known as: BEC1, ELK2, Kv12.2

NCBI Gene: 23416 ENSG00000135519 UniProt: Q9ULD8

The protein is a voltage-gated inwardly rectifying potassium channel alpha subunit that exhibits rapid activation and inactivation, predominantly expressed in the forebrain. Mutations cause autosomal dominant developmental and epileptic encephalopathy and neurodevelopmental disorder with seizures and brain atrophy, affecting cognitive development and seizure control. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

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)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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