KCNK9 Chromosome 8
Potassium two pore domain channel subfamily K member 9
Upload your DNA to see your personal genotypes for variants in KCNK9.
What This Gene Does
This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Potassium two pore domain channel subfamily K
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000169427
Associated Conditions (3)
Autism spectrum disorder
Birk-Barel syndrome
Inborn genetic diseases
Key Variants
RS775502608
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1166889219
Conflicting classifications of pathogenicity
Birk-Barel syndrome, Birk-Barel syndrome
Health Risk
RS1814690517
Conflicting classifications of pathogenicity
Birk-Barel syndrome, Birk-Barel syndrome
Health Risk
RS1814677892
Likely pathogenic
Birk-Barel syndrome, Birk-Barel syndrome
Health Risk
RS867543866
Likely pathogenic
Birk-Barel syndrome, Inborn genetic diseases, Birk-Barel syndrome
Health Risk
RS121908332
Pathogenic
Birk-Barel syndrome, Birk-Barel syndrome, Birk-Barel syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS775502608 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1166889219 | Health Risk | Conflicting classifications of pathogenicity | Birk-Barel syndrome, Birk-Barel syndrome |
| RS1814690517 | Health Risk | Conflicting classifications of pathogenicity | Birk-Barel syndrome, Birk-Barel syndrome |
| RS1814677892 | Health Risk | Likely pathogenic | Birk-Barel syndrome, Birk-Barel syndrome |
| RS867543866 | Health Risk | Likely pathogenic | Birk-Barel syndrome, Inborn genetic diseases, Birk-Barel syndrome |
| RS121908332 | Health Risk | Pathogenic | Birk-Barel syndrome, Birk-Barel syndrome, Birk-Barel syndrome |