KCNK4 Chromosome 11

Potassium two pore domain channel subfamily K member 4
30 variants 30 Health Risk

Upload your DNA to see your personal genotypes for variants in KCNK4.

What This Gene Does
This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Potassium two pore domain channel subfamily K
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000182450
Associated Conditions (13)
See cases
Facial dysmorphism
hypertrichosis
epilepsy
intellectual/developmental delay
and gingival overgrowth syndrome
Benign Rolandic epilepsy
KCNK4-related disorder
Seizure
Generalized hypertrichosis
Gingival overgrowth
Abnormal facial shape
Intellectual disability
Key Variants
All Variants (30)
RSID Category Clinical Significance Conditions
RS1049128278 Health Risk Conflicting classifications of pathogenicity
RS1197665953 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1283277452 Health Risk Conflicting classifications of pathogenicity
RS137935680 Health Risk Conflicting classifications of pathogenicity
RS1379919229 Health Risk Conflicting classifications of pathogenicity
RS1401031291 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis, epilepsy
RS146535799 Health Risk Conflicting classifications of pathogenicity
RS146724193 Health Risk Conflicting classifications of pathogenicity
RS1565369710 Health Risk Conflicting classifications of pathogenicity
RS200022673 Health Risk Conflicting classifications of pathogenicity
RS200599852 Health Risk Conflicting classifications of pathogenicity
RS202162247 Health Risk Conflicting classifications of pathogenicity
RS2034823903 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis, epilepsy
RS2135231835 Health Risk Conflicting classifications of pathogenicity
RS2135232745 Health Risk Conflicting classifications of pathogenicity
RS558208878 Health Risk Conflicting classifications of pathogenicity
RS757444887 Health Risk Conflicting classifications of pathogenicity
RS760963075 Health Risk Conflicting classifications of pathogenicity KCNK4-related disorder, KCNK4-related disorder
RS761408425 Health Risk Conflicting classifications of pathogenicity
RS764383329 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis, epilepsy
RS767970248 Health Risk Conflicting classifications of pathogenicity
RS768144352 Health Risk Conflicting classifications of pathogenicity
RS768358494 Health Risk Conflicting classifications of pathogenicity
RS769680927 Health Risk Conflicting classifications of pathogenicity
RS777868070 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis, epilepsy
RS781769954 Health Risk Conflicting classifications of pathogenicity
RS2135233808 Health Risk Likely pathogenic
RS2495688455 Health Risk Pathogenic
RS1189909394 Health Risk Pathogenic/Likely pathogenic Seizure, Generalized hypertrichosis, Gingival overgrowth
RS1565369746 Health Risk Pathogenic/Likely pathogenic Abnormal facial shape, Intellectual disability, Seizure
Sign Up to Analyze Your DNA Log In