KCNK12

Chr 2

potassium two pore domain channel subfamily K member 12

Also known as: K2p12.1, THIK-2, THIK2

NCBI Gene: 56660 ENSG00000184261 UniProt: Q9HB15 OMIM: 607366

The protein forms potassium channels that conduct outward K+ currents at the plasma membrane, either as homodimers or by heterodimerizing with KCNK13. Mutations cause autosomal dominant developmental delay with intellectual disability, autism spectrum disorder, and seizures, typically with onset in infancy or early childhood. This gene is highly constrained against loss-of-function mutations (pLI 0.92, LOEUF 0.37), indicating that haploinsufficiency is likely not well-tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]

OMIM 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)

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P/LP submissions

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P/LP missense

0.37

LOEUF

Multiple*

Mechanism· predicted