KCNB2

Chr 8

potassium voltage-gated channel subfamily B member 2

Also known as: KV2.2

NCBI Gene: 9312 ENSG00000182674 UniProt: Q92953

The KCNB2 protein forms voltage-gated potassium channels that regulate neuronal excitability and transmembrane potassium transport, functioning as delayed-rectifier channels primarily in brain and smooth muscle cells. Mutations cause autosomal dominant epileptic encephalopathy with developmental delay and intellectual disability, typically presenting in early childhood. This gene is highly constrained against loss-of-function mutations, indicating that KCNB2 variants are likely to have significant clinical impact.

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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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