KCNK18 Chromosome 10
Potassium two pore domain channel subfamily K member 18
Upload your DNA to see your personal genotypes for variants in KCNK18.
What This Gene Does
Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Potassium two pore domain channel subfamily K
Locus Type
gene with protein product
Location
10q25.3
Ensembl
ENSG00000186795
Associated Conditions (9)
Migraine
with or without aura
susceptibility to
13
KCNK18-related disorder
Vascular parkinsonism
Parkinsonian disorder
Parkinson disease
KCNK18-related neurodevelopmental disorder
Key Variants
RS139919378
Conflicting classifications of pathogenicity
Health Risk
RS541915908
Conflicting classifications of pathogenicity
Migraine, with or without aura, susceptibility to
Health Risk
RS869025175
Conflicting classifications of pathogenicity
Migraine, with or without aura, susceptibility to
Health Risk
RS146194900
Pathogenic
KCNK18-related neurodevelopmental disorder, KCNK18-related neurodevelopmental disorder
Health Risk
RS2493501187
Pathogenic
Migraine, with or without aura, susceptibility to
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139919378 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541915908 | Health Risk | Conflicting classifications of pathogenicity | Migraine, with or without aura, susceptibility to |
| RS869025175 | Health Risk | Conflicting classifications of pathogenicity | Migraine, with or without aura, susceptibility to |
| RS146194900 | Health Risk | Pathogenic | KCNK18-related neurodevelopmental disorder, KCNK18-related neurodevelopmental disorder |
| RS2493501187 | Health Risk | Pathogenic | Migraine, with or without aura, susceptibility to |