HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNK5
potassium two pore domain channel subfamily K member 5
Chromosome 6 · 6p21.2
NCBI Gene: 8645Ensembl: ENSG00000164626.10HGNC: HGNC:6280UniProt: A0A0B6VPR3
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
potassium ion transportprotein heterodimerization activitypotassium channel activityprotein bindingcoronary artery diseasemigraine disorderopen-angle glaucomacoronary atherosclerosis
✦AI Summary

KCNK5 encodes a two-pore domain potassium channel that conducts voltage-dependent outward rectifying currents through an 'ion flux gating' mechanism where outward potassium flow opens the channel gate 123. The channel homo- and heterodimerizes to form functional channels with distinct regulatory properties 2. KCNK5 is transcriptionally regulated by hypoxia through oxygen-sensitive promoter elements 4 and functions in excitability, volume regulation, and bicarbonate handling across tissues 4. In pathological contexts, KCNK5 exhibits contrasting roles. During ischemic stroke, KCNK5 is upregulated on neurons and promotes apoptosis; KCNK5 knockout mice demonstrated reduced infarct volumes and improved neurologic outcomes, suggesting the channel exerts pro-apoptotic effects under ischemia 5. Conversely, rare variants with cis-regulatory effects on KCNK5 confer protection against migraine and brain aneurysms 6. KCNK5 has been identified as a druggable therapeutic target for migraine through genome-wide Mendelian randomization analyses 78. In dry eye disease, KCNK5 upregulation mediates potassium efflux, activating NLRP3 inflammasome-mediated pyroptosis through TNFSF10-regulated autophagy impairment; KCNK5 silencing mitigated pyroptosis 9. Additionally, KCNK5 variants have been associated with regulation of platelet maturity indices 10, and exome sequencing identified KCNK5 mutations in Balkan endemic nephropathy patients 11.

Sources cited
1
KCNK5 encodes a two-pore domain potassium channel that conducts voltage-dependent outward rectifying currents through an 'ion flux gating' mechanism where outward potassium flow opens the channel gate , , .
PMID: 36063992
2
KCNK5 is transcriptionally regulated by hypoxia through oxygen-sensitive promoter elements and functions in excitability, volume regulation, and bicarbonate handling across tissues .
PMID: 16168386
3
During ischemic stroke, KCNK5 is upregulated on neurons and promotes apoptosis; KCNK5 knockout mice demonstrated reduced infarct volumes and improved neurologic outcomes, suggesting the channel exerts pro-apoptotic effects under ischemia .
PMID: 25315980
4
Conversely, rare variants with cis-regulatory effects on KCNK5 confer protection against migraine and brain aneurysms .
PMID: 37884687
5
In dry eye disease, KCNK5 upregulation mediates potassium efflux, activating NLRP3 inflammasome-mediated pyroptosis through TNFSF10-regulated autophagy impairment; KCNK5 silencing mitigated pyroptosis .
PMID: 38236186
6
Additionally, KCNK5 variants have been associated with regulation of platelet maturity indices , and exome sequencing identified KCNK5 mutations in Balkan endemic nephropathy patients .
PMID: 28865245
7
Additionally, KCNK5 variants have been associated with regulation of platelet maturity indices , and exome sequencing identified KCNK5 mutations in Balkan endemic nephropathy patients .
PMID: 25725245
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.49Moderate
migraine disorderOpen Targets
0.48Moderate
open-angle glaucomaOpen Targets
0.44Moderate
coronary atherosclerosisOpen Targets
0.41Moderate
nephrolithiasisOpen Targets
0.39Weak
pancreatic carcinomaOpen Targets
0.32Weak
multinodular goiterOpen Targets
0.23Weak
myocardial infarctionOpen Targets
0.22Weak
hypertensionOpen Targets
0.19Weak
urolithiasisOpen Targets
0.19Weak
Increased blood pressureOpen Targets
0.17Weak
Moderate albuminuriaOpen Targets
0.13Weak
essential hypertensionOpen Targets
0.13Weak
bladder calculusOpen Targets
0.12Weak
medical procedureOpen Targets
0.10Suggestive
frozen shoulderOpen Targets
0.09Suggestive
aneurysmOpen Targets
0.08Suggestive
renal fibrosisOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
Autosomal recessive infantile hypercalcemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNE3Protein interaction100%KCNJ13Protein interaction94%KCNN4Protein interaction94%KCNQ1Protein interaction94%KRT76Protein interaction88%KCNK9Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
69%
Ovary
24%
Lung
18%
Heart
3%
Brain
1%
Gene Interaction Network
Click a node to explore
KCNK5KCNE3KCNJ13KCNN4KCNQ1KRT76KCNK9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95279
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.36–0.75]
RankingsWhere KCNK5 stands among ~20K protein-coding genes
  • #9,469of 20,598
    Most Researched45
  • #5,948of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedKCNK5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Balkan nephropathy.
PMID: 25725245
Clin Nephrol · 2015
1.00
2
Identifying therapeutic target genes for migraine by systematic druggable genome-wide Mendelian randomization.
PMID: 38867170
J Headache Pain · 2024
0.90
3
The two-pore domain potassium channel KCNK5 deteriorates outcome in ischemic neurodegeneration.
PMID: 25315980
Pflugers Arch · 2015
0.80
4
KCNK5 Regulating Potassium Efflux and Inducing Pyroptosis in Corneal Epithelial Cells Through TNFSF10-Mediated Autophagy in Dry Eye.
PMID: 38236186
Invest Ophthalmol Vis Sci · 2024
0.70
5
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.
PMID: 37884687
Nat Genet · 2023
0.60