KCNQ5

Chr 6AD

potassium voltage-gated channel subfamily Q member 5

Also known as: Kv7.5, MRD46

NCBI Gene: 56479 ENSG00000185760 UniProt: Q9NR82 OMIM: 607357

The protein encodes a potassium channel that generates M-currents and forms heteromeric channels with KCNQ3, with expression in brain subregions and skeletal muscle. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder. The high constraint scores (pLI 0.98, LOEUF 0.31) indicate the gene is highly intolerant to loss-of-function variants, consistent with the dominant inheritance pattern where haploinsufficiency leads to disease.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 46MIM #617601

Clinical highlights

Interpreting a novel variant

Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.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

0.31

LOEUF· LoF intol.

Multiple*

Mechanism· G2P

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GeneReview available — KCNQ5