KCND2

Chr 7

potassium voltage-gated channel subfamily D member 2

Also known as: KV4.2, RK5

NCBI Gene: 3751 ENSG00000184408 UniProt: Q9NZV8 OMIM: 605410

The protein forms voltage-gated potassium channels that regulate neuronal excitability by mediating A-type potassium currents, particularly important for controlling action potential firing patterns and back-propagation in brain neurons. Mutations cause autosomal dominant epileptic encephalopathy, early infantile, and seizures, benign familial infantile, affecting neuronal excitability and seizure threshold. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.574) and has an established GeneReviews entry indicating clinical significance.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

KCND2-related neurodevelopmental disorder with or without seizures · ADModerateconsider for supplementary testing

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.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

0.57

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — KCND2