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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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KCNK4
potassium two pore domain channel subfamily K member 4
Chromosome 11 Β· 11q13.1
NCBI Gene: 50801Ensembl: ENSG00000182450.15HGNC: HGNC:6279UniProt: Q2YDA1
40PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
potassium channel activityoutward rectifier potassium channel activitypotassium ion leak channel activitymechanosensitive potassium channel activityfacial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromegingival overgrowthIntellectual disabilitySeizure
✦AI Summary

KCNK4 encodes a two-pore-domain potassium channel that functions as a mechanosensitive and thermosensitive leak channel 1. The channel operates in two modes: voltage-dependent outward rectification under resting conditions, and voltage-independent leak conductance upon stimulation by mechanical stretch, pH changes, heat, and lipids 2. KCNK4 heterodimerizes with other K2P channels, particularly KCNK2/TREK-1, to form channels with distinct regulatory properties that facilitate rapid repolarization and high-speed saltatory conduction in myelinated sensory nerves 1. The channel is widely expressed in nervous tissue, brain, heart, and periodontal ligaments 3. Gain-of-function variants in KCNK4 cause FHEIG syndrome (facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth) 24. Patch-clamp analyses show these mutations increase basal channel activity and impair sensitivity to mechanical stimulation and arachidonic acid 2. Molecular dynamics simulations indicate mutations favor sealing of lateral intramembrane fenestrations, enhancing potassium flow 2. De novo variants cluster in regions critical for channel conformation, while variants in less critical domains may cause milder phenotypes like isolated Rolandic epilepsy 4. KCNK4 has also been identified as a bipolar disorder risk gene through fine-mapping studies 5, and upregulation of KCNK4 enhances chemosensitivity in ovarian cancer cells 6.

Sources cited
1
KCNK4 encodes a two-pore-domain potassium channel that functions as a mechanosensitive and thermosensitive leak channel .
PMID: 12191490
2
The channel operates in two modes: voltage-dependent outward rectification under resting conditions, and voltage-independent leak conductance upon stimulation by mechanical stretch, pH changes, heat, and lipids .
PMID: 30290154
3
The channel is widely expressed in nervous tissue, brain, heart, and periodontal ligaments .
PMID: 37750049
4
Gain-of-function variants in KCNK4 cause FHEIG syndrome (facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth) , .
PMID: 36683851
5
KCNK4 has also been identified as a bipolar disorder risk gene through fine-mapping studies , and upregulation of KCNK4 enhances chemosensitivity in ovarian cancer cells .
PMID: 38405768
6
KCNK4 has also been identified as a bipolar disorder risk gene through fine-mapping studies , and upregulation of KCNK4 enhances chemosensitivity in ovarian cancer cells .
PMID: 36995496
Disease Associationsβ“˜21
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeOpen Targets
0.66Moderate
gingival overgrowthOpen Targets
0.52Moderate
Intellectual disabilityOpen Targets
0.52Moderate
SeizureOpen Targets
0.52Moderate
Abnormal facial shapeOpen Targets
0.43Moderate
Generalized hypertrichosisOpen Targets
0.43Moderate
hypertrichosisOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.37Weak
Rolandic epilepsyOpen Targets
0.27Weak
epilepsyOpen Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
Hirschsprung diseaseOpen Targets
0.01Suggestive
ischemiaOpen Targets
0.01Suggestive
thyroid cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
hereditary gingival fibromatosisOpen Targets
0.01Suggestive
strokeOpen Targets
0.01Suggestive
Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndromeUniProt
Pathogenic Variants6
NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)Pathogenic
Seizure;Generalized hypertrichosis;Gingival overgrowth;Abnormal facial shape;Intellectual disability|Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome|not specified
β˜…β˜…β˜†β˜†2025β†’ Residue 244
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)Pathogenic
Abnormal facial shape;Intellectual disability;Seizure;Generalized hypertrichosis;Gingival overgrowth|Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 172
NM_033310.3(KCNK4):c.728T>C (p.Leu243Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 243
NM_033310.3(KCNK4):c.416G>A (p.Gly139Glu)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 139
NM_033310.3(KCNK4):c.739G>T (p.Ala247Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 247
NM_033310.3(KCNK4):c.428G>A (p.Gly143Asp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 143
View on ClinVar β†—
Related Genes
KCNK18Protein interaction88%KCNK12Protein interaction86%KCNK13Protein interaction73%PIEZO1Protein interaction72%KRT76Protein interaction72%KCNK9Protein interaction64%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
15%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KCNK4KCNK18KCNK12KCNK13PIEZO1KRT76KCNK9
PROTEIN STRUCTURE
Preparing viewer…
PDB7LJ5 Β· 2.26 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.59–1.14]
RankingsWhere KCNK4 stands among ~20K protein-coding genes
  • #10,189of 20,598
    Most Researched40
  • #3,412of 5,498
    Most Pathogenic Variants6
  • #11,851of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedKCNK4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cloning of two transcripts, HKT4.1a and HKT4.1b, from the human two-pore K+ channel gene KCNK4. Chromosomal localization, tissue distribution and functional expression.
PMID: 12191490
Brain Res Mol Brain Res Β· 2002
1.00
2
ATP6V1B2-related epileptic encephalopathy.
PMID: 32597767
Epileptic Disord Β· 2020
0.90
3
Fine-mapping genomic loci refines bipolar disorder risk genes.
PMID: 38405768
medRxiv Β· 2024
0.80
4
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
PMID: 37750049
Am J Med Genet A Β· 2024
0.70
5
Expanding the phenotypic spectrum of
PMID: 36683851
Front Mol Neurosci Β· 2022
0.60