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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KCNK3
potassium two pore domain channel subfamily K member 3
Chromosome 2 Β· 2p23.3
NCBI Gene: 3777Ensembl: ENSG00000171303.8HGNC: HGNC:6278UniProt: O14649
99PubMed Papers
21Diseases
7Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
monoatomic ion channel activitysodium channel activityprotein bindingoutward rectifier potassium channel activitypulmonary hypertension, primary, 4hypertensionessential hypertensionpulmonary arterial hypertension
✦AI Summary

KCNK3 encodes a two-pore domain potassium channel that conducts voltage-dependent outward rectifying K+ currents through an 'ion flux gating' mechanism where outward ion flow opens the channel gate 123. The channel exhibits pH sensitivity, becoming permeable to Na+ ions upon extracellular acidification through protonation of His-98, which stabilizes C-type inactivation 4. KCNK3 forms functional homo- and heteromeric channels with distinct regulatory properties and supports fast-gating kinetics critical for action potential repolarization 13. In the pulmonary circulation, KCNK3 regulates vascular smooth muscle membrane potential and is physiologically important for maintaining pulmonary vascular homeostasis 5. Loss-of-function KCNK3 variants cause pulmonary arterial hypertension (PAH), an autosomal dominant condition with incomplete penetrance, representing the first identified channelopathy in PAH 67. KCNK3 has definitive evidence for PAH causality and is recommended for genetic testing in PAH patients 8. KCNK3 dysfunction also contributes to dasatinib-associated PAH by decreasing K+ channel function, promoting mitochondrial dysfunction and endothelial cell dysfunction in pulmonary vessels 9. Genetic variants in KCNK3 account for approximately 2.7% of PAH cases and represent potential targets for biomarker development and therapeutic intervention 7.

Sources cited
1
Ion flux gating mechanism and channel homodimerization properties
PMID: 23169818
2
Ion flux gating mechanism for voltage-dependent K+ channel function
PMID: 26919430
3
Ion flux gating and heterodimerization with distinct regulatory properties
PMID: 32499642
4
pH sensitivity and Na+ ion selectivity through His-98 protonation
PMID: 22948150
5
Physiological role in pulmonary circulation and vascular homeostasis
PMID: 37477289
6
KCNK3 mutations cause autosomal dominant PAH with incomplete penetrance and are the first PAH channelopathy
PMID: 24742047
7
KCNK3 has definitive evidence for PAH causality and is recommended for genetic testing
PMID: 37422716
8
Loss-of-function KCNK3 variants cause endothelial dysfunction and mitochondrial dysfunction in PAH
PMID: 38546978
9
KCNK3 variants explain ~2.7% of PAH cases and represent therapeutic targets
PMID: 35204766
Disease Associationsβ“˜21
pulmonary hypertension, primary, 4Open Targets
0.75Strong
hypertensionOpen Targets
0.54Moderate
essential hypertensionOpen Targets
0.50Moderate
pulmonary arterial hypertensionOpen Targets
0.50Moderate
alcohol drinkingOpen Targets
0.48Moderate
respiratory system diseaseOpen Targets
0.46Moderate
cardiovascular diseaseOpen Targets
0.45Moderate
strokeOpen Targets
0.45Moderate
cerebrovascular disorderOpen Targets
0.45Moderate
obesityOpen Targets
0.42Moderate
sleep apneaOpen Targets
0.42Moderate
major depressive disorderOpen Targets
0.41Moderate
Increased blood pressureOpen Targets
0.41Moderate
potassium deficiency diseaseOpen Targets
0.41Moderate
hypertensive heart diseaseOpen Targets
0.40Moderate
heritable pulmonary arterial hypertensionOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.37Weak
lung diseaseOpen Targets
0.37Weak
COVID-19Open Targets
0.36Weak
acute respiratory distress syndromeOpen Targets
0.35Weak
Pulmonary hypertension, primary, 4UniProt
Pathogenic Variants9
NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp)Pathogenic
Pulmonary hypertension, primary, 4|Pulmonary hypertension, primary, 1
β˜…β˜†β˜†β˜†2025β†’ Residue 203
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)Likely pathogenic
Pulmonary hypertension, primary, 4
β˜…β˜†β˜†β˜†2024β†’ Residue 182
NM_002246.3(KCNK3):c.398A>G (p.Asn133Ser)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 133
NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro)Likely pathogenic
Pulmonary hypertension, primary, 4
β˜…β˜†β˜†β˜†2017β†’ Residue 122
NM_002246.3(KCNK3):c.661G>C (p.Val221Leu)Pathogenic
Pulmonary hypertension, primary, 4
β˜†β˜†β˜†β˜†2013β†’ Residue 221
NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys)Pathogenic
Pulmonary hypertension, primary, 4
β˜†β˜†β˜†β˜†2013β†’ Residue 192
NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys)Pathogenic
Pulmonary hypertension, primary, 4
β˜†β˜†β˜†β˜†β†’ Residue 8
NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln)Likely pathogenic
Pulmonary arterial hypertension
β˜†β˜†β˜†β˜†β†’ Residue 182
NM_002246.3(KCNK3):c.607G>C (p.Gly203Arg)Pathogenic
Pulmonary hypertension, primary, 4
β˜†β˜†β˜†β˜†β†’ Residue 203
View on ClinVar β†—
Drug Targets7
DESFLURANEApproved
Potassium channel subfamily K member 10 opener
DOXAPRAMApproved
Potassium channel subfamily K member 3 blocker
respiratory system disease
DOXAPRAM HYDROCHLORIDEApproved
Potassium channel subfamily K member 3 blocker
lung disease
ENFLURANEApproved
Potassium channel subfamily K member 10 opener
HALOTHANEApproved
Potassium channel subfamily K member 10 opener
ISOFLURANEApproved
Potassium channel subfamily K member 2 opener
SEVOFLURANEApproved
Glycine receptor (alpha-1/beta) positive modulator
Related Genes
S100A10Protein interaction96%KRT76Protein interaction88%KCNK18Protein interaction81%KCNK10Protein interaction78%YWHABProtein interaction75%KCNK9Protein interaction75%
Tissue Expression6 tissues
Lung
100%
Brain
16%
Heart
15%
Ovary
7%
Liver
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KCNK3S100A10KRT76KCNK18KCNK10YWHABKCNK9
PROTEIN STRUCTURE
Preparing viewer…
PDB6RV3 Β· 2.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.09Tolerant
Observed/Expected LoF0.47 [0.28–0.83]
RankingsWhere KCNK3 stands among ~20K protein-coding genes
  • #4,840of 20,598
    Most Researched99 Β· top quartile
  • #229of 1,025
    FDA-Approved Drug Targets7 Β· top quartile
  • #2,945of 5,498
    Most Pathogenic Variants9
  • #7,022of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedKCNK3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genome-Wide Methylation Analysis Reveals a
PMID: 38841840
Circ Res Β· 2024
1.00
2
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
PMID: 37422716
Genet Med Β· 2023
0.90
3
Physiological and pathophysiological roles of the KCNK3 potassium channel in the pulmonary circulation and the heart.
PMID: 37477289
J Physiol Β· 2023
0.80
4
[Pulmonary (Arterial) Hypertension].
PMID: 27050448
Pneumologie Β· 2016
0.70
5
Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in
PMID: 40035659
Am J Respir Crit Care Med Β· 2025
0.60