KCNK4 Chromosome 11
Potassium two pore domain channel subfamily K member 4
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
RS1049128278
Conflicting classifications of pathogenicity
Health Risk
RS1197665953
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1283277452
Conflicting classifications of pathogenicity
Health Risk
RS137935680
Conflicting classifications of pathogenicity
Health Risk
RS1379919229
Conflicting classifications of pathogenicity
Health Risk
RS1401031291
Conflicting classifications of pathogenicity
Facial dysmorphism, hypertrichosis, epilepsy
Health Risk
RS146535799
Conflicting classifications of pathogenicity
Health Risk
RS146724193
Conflicting classifications of pathogenicity
Health Risk
RS1565369710
Conflicting classifications of pathogenicity
Health Risk
RS200022673
Conflicting classifications of pathogenicity
Health Risk
RS200599852
Conflicting classifications of pathogenicity
Health Risk
RS202162247
Conflicting classifications of pathogenicity
Health Risk
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 |