KCNC2

Chr 12AD

potassium voltage-gated channel subfamily C member 2

Also known as: DEE103, KV3.2

NCBI Gene: 3747 ENSG00000166006 UniProt: Q96PR1 OMIM: 176256

The protein forms voltage-gated potassium channels that mediate fast action potential repolarization and enable sustained high-frequency firing in central nervous system neurons, particularly in GABAergic interneurons and cells involved in gamma oscillations. Mutations cause developmental and epileptic encephalopathy 103 through an autosomal dominant inheritance pattern via a gain-of-function mechanism. The altered channel function disrupts neuronal excitability and synaptic transmission, leading to seizures and developmental impairment.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 103MIM #619913

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ADDefinitivesufficient evidence for diagnostic panels

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

0.53

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — KCNC2