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potassium voltage-gated channel subfamily Q member 5
Also known as: Kv7.5, MRD46
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]
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
0 submitted variants in ClinVar
KCNQ5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools
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.
Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KCNQ5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.
| Group | People | Missense | Truncating |
|---|---|---|---|
| European (non-Finnish) | ~556k | 1 in 97 | 1 in 2,700 |
| South Asian | ~43k | 1 in 66 | 1 in 1,200 |
| Remaining (unassigned) | ~30k | 1 in 75 | 1 in 370 |
| European (Finnish) | ~27k | 1 in 240 | 1 in 440 |
| Admixed American | ~22k | 1 in 90 | 1 in 1,000 |
| African / African American | ~21k | 1 in 76 | 1 in 610 |
| East Asian | ~20k | 1 in 75 | 1 in 1,600 |
| Ashkenazi Jewish | ~13k | 1 in 170 | 1 in 2,600 |
| Middle Eastern | ~2,884 | 1 in 80 | ≈ 1 in 610 |
Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.