KCNQ5 Chromosome 6
Potassium voltage-gated channel subfamily Q member 5
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What This Gene Does
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]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
6q13
Ensembl
ENSG00000185760
Associated Conditions (6)
Intellectual disability
autosomal dominant 46
Inborn genetic diseases
Cleft palate
KCNQ5-related disorder
Global developmental delay
Key Variants
RS1204507146
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 46, Inborn genetic diseases
Health Risk
RS1314919218
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 46, Intellectual disability
Health Risk
RS143496547
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1446827633
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 46, Inborn genetic diseases
Health Risk
RS145183726
Conflicting classifications of pathogenicity
Health Risk
RS1464881276
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148226356
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554678568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1765711003
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1765738668
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 46, Intellectual disability
Health Risk
RS1775233922
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 46, Intellectual disability
Health Risk
RS184951305
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 46, Inborn genetic diseases
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1135401956 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 46, Intellectual disability |
| RS1135401957 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 46, Intellectual disability |
| RS1135401958 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 46, Intellectual disability |
| RS1265096046 | Health Risk | Pathogenic | — |
| RS1554210418 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 46 |
| RS1775232605 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 46, Intellectual disability |
| RS2150357621 | Health Risk | Pathogenic | — |
| RS2150391860 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 46, Intellectual disability |
| RS2154471231 | Health Risk | Pathogenic | — |
| RS2481564750 | Health Risk | Pathogenic | — |
| RS2481566230 | Health Risk | Pathogenic | — |
| RS2533481925 | Health Risk | Pathogenic | — |
| RS2533591376 | Health Risk | Pathogenic | — |
| RS2533591746 | Health Risk | Pathogenic | — |
| RS2533591836 | Health Risk | Pathogenic | — |
| RS1554201137 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 46, Intellectual disability |