KCNG2

Chr 18

potassium voltage-gated channel modifier subfamily G member 2

Also known as: KCNF2, KV6.2

NCBI Gene: 26251 ENSG00000178342 UniProt: Q9UJ96

The protein is a regulatory gamma subunit of voltage-gated potassium channels that modulates channel kinetics and voltage-dependent activation when coassembled with other subunits like KCNB1, contributing to cellular excitability regulation including cardiac action potential repolarization. Mutations in KCNG2 cause autosomal dominant epileptic encephalopathy with onset typically in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), suggesting some intolerance to complete protein loss.

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. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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