KCNH5

Chr 14AD

potassium voltage-gated channel subfamily H member 5

Also known as: DEE112, EAG2, H-EAG2, Kv10.2, hEAG2

NCBI Gene: 27133 ENSG00000140015 UniProt: Q8NCM2 OMIM: 605716

The protein is a voltage-gated potassium channel that functions as an outward-rectifying, noninactivating channel involved in regulating neurotransmitter release and neuronal excitability. Mutations cause developmental and epileptic encephalopathy 112 through an autosomal dominant inheritance pattern. The pathogenic mechanism involves gain-of-function effects that disrupt normal neuronal signaling.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 112MIM #620537

Clinical highlights

Gene-disease validity (ClinGen)

neonatal/infantile epilepsy syndrome · 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.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

0.44

LOEUF

Multiple*

Mechanism· predicted