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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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KCNK17
potassium two pore domain channel subfamily K member 17
Chromosome 6 Β· 6p21.2
NCBI Gene: 89822Ensembl: ENSG00000124780.15HGNC: HGNC:14465UniProt: Q96T54
24PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
potassium channel activityprotein bindingoutward rectifier potassium channel activityprotein heterodimerization activitytype 2 diabetes mellitusAbnormality of the skeletal systemdiabetes mellitusexostosis
✦AI Summary

KCNK17 encodes TASK-4, a two-pore domain potassium channel conducting voltage-dependent outward rectifying currents through an 'ion flux gating' mechanism where outward (but not inward) potassium flow opens the channel gate 1234. The channel forms homo- and heterodimers with distinct regulatory properties 4 and is permeable to monovalent cations including K+, Rb+, and Cs+ 3. In the cardiac system, KCNK17 is strongly expressed in Purkinje cells where it regulates action potential duration and conduction velocity 5. A gain-of-function mutation (p.Gly88Arg) increases channel conductivity and slows action potential upstroke in cardiac myocytes, contributing to conduction disorders 5. Inherited KCNK17 variants are associated with progressive cardiac conduction disorders 6. Genetically, KCNK17 variants correlate with cerebral hemorrhage risk in Chinese populations, with rs12214600 showing significant association after adjusting for age, sex, and hypertension 7. Additionally, KCNK17 expression is reduced in hepatocellular carcinoma and serves as a diagnostic/prognostic biomarker 8. A variant near KCNK17 (rs2815063) associates with cancer treatment-induced cardiac dysfunction in childhood cancer survivors, particularly those exposed to doxorubicin, through KCNK17 downregulation 9. KCNK17 also contributes to transcriptomic signatures predicting rheumatoid arthritis response to TNF inhibitor therapy 10.

Sources cited
1
KCNK17 voltage sensing and ion flux gating mechanism
PMID: 11248242
2
KCNK17 ion flux gating where outward flow opens the gate
PMID: 11263999
3
KCNK17 ion flux gating mechanism and permeability to monovalent cations
PMID: 26919430
4
KCNK17 homo- and heterodimerization and ion flux gating
PMID: 36063992
5
KCNK17 expression in cardiac Purkinje cells, gain-of-function mutations in conduction disorders, and action potential effects
PMID: 24972929
6
KCNK17 variants associated with inherited progressive cardiac conduction disorders
PMID: 25426816
7
KCNK17 SNPs associated with cerebral hemorrhage in Chinese population
PMID: 25179130
8
Reduced KCNK17 expression in hepatocellular carcinoma as diagnostic and prognostic biomarker
PMID: 31581133
9
KCNK17 variant rs2815063 associated with cancer treatment-induced cardiac dysfunction and doxorubicin-specific effects through KCNK17 downregulation
PMID: 35698272
10
KCNK17 in transcriptomic signature predicting TNF inhibitor response in rheumatoid arthritis
PMID: 40908203
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.51Moderate
diabetes mellitusOpen Targets
0.41Moderate
exostosisOpen Targets
0.28Weak
goutOpen Targets
0.22Weak
migraine disorderOpen Targets
0.18Weak
HyperhidrosisOpen Targets
0.17Weak
frozen shoulderOpen Targets
0.11Weak
myocardial infarctionOpen Targets
0.10Suggestive
coronary artery diseaseOpen Targets
0.10Suggestive
nephrolithiasisOpen Targets
0.09Suggestive
urolithiasisOpen Targets
0.09Suggestive
Increased blood pressureOpen Targets
0.08Suggestive
diabetic neuropathyOpen Targets
0.08Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.08Suggestive
bladder calculusOpen Targets
0.07Suggestive
multinodular goiterOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.06Suggestive
response to xenobiotic stimulusOpen Targets
0.05Suggestive
ShockOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_031460.4(KCNK17):c.262G>A (p.Gly88Arg)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†β†’ Residue 88
View on ClinVar β†—
Related Genes
KCNN3Shared pathway100%KCNK7Shared pathway100%KCNK18Protein interaction80%KRT76Protein interaction72%KCNQ5Shared pathway67%KCNU1Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Lung
70%
Liver
58%
Bone Marrow
45%
Heart
14%
Ovary
3%
Gene Interaction Network
Click a node to explore
KCNK17KCNN3KCNK7KCNK18KRT76KCNQ5KCNU1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96T54
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.57LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.14 [0.83–1.57]
RankingsWhere KCNK17 stands among ~20K protein-coding genes
  • #13,219of 20,598
    Most Researched24
  • #5,331of 5,498
    Most Pathogenic Variants1
  • #15,546of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedKCNK17
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mapping human haematopoietic stem cells from haemogenic endothelium to birth.
PMID: 35418685
Nature Β· 2022
1.00
2
Association of variants in KCNK17 gene with ischemic stroke and cerebral hemorrhage in a Chinese population.
PMID: 25179130
J Stroke Cerebrovasc Dis Β· 2014
0.90
3
KCNK levels are prognostic and diagnostic markers for hepatocellular carcinoma.
PMID: 31581133
Aging (Albany NY) Β· 2019
0.80
4
Inherited progressive cardiac conduction disorders.
PMID: 25426816
Curr Opin Cardiol Β· 2015
0.70
5
A Novel Locus on 6p21.2 for Cancer Treatment-Induced Cardiac Dysfunction Among Childhood Cancer Survivors.
PMID: 35698272
J Natl Cancer Inst Β· 2022
0.60