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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNK9
potassium two pore domain channel subfamily K member 9
Chromosome 8 Β· 8q24.3
NCBI Gene: 51305Ensembl: ENSG00000169427.8HGNC: HGNC:6283UniProt: Q9NPC2
91PubMed Papers
21Diseases
7Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
potassium channel activitysodium channel activitypotassium ion import across plasma membraneprotein bindingBirk-Barel syndromerespiratory system diseaselung diseaseacute respiratory distress syndrome
✦AI Summary

KCNK9 (TASK-3) is a two-pore domain potassium channel that conducts voltage-dependent outward rectifying currents through 'ion flux gating,' where outward K+ flow opens the channel gate 12. The channel undergoes pH-dependent ion selectivity switching, becoming Na+-permeable upon extracellular acidification via protonation of His-98, which stabilizes C-type inactivation 3. KCNK9 forms homo- and heterodiomeric channels with distinct gating properties, regulating neuronal excitability by hyperpolarizing resting membrane potential while supporting high-frequency action potential firing in cerebellar and hippocampal granule neurons 4. The gene exhibits maternal-specific imprinted expression in brain tissue 5. Pathologically, KCNK9 is amplified 3-10 fold and overexpressed up to 100-fold in 44% of breast tumors, promoting tumor formation and resistance to hypoxia and serum deprivation 6. In melanoma cells, KCNK9 silencing causes mitochondrial depolarization and triggers caspase-dependent and -independent apoptosis 7. Antibody-mediated KCNK9 inhibition reduces carcinoma cell viability and suppresses xenograft growth and metastasis 8. Loss-of-function KCNK9 mutations cause KCNK9 imprinting syndrome, a neurodevelopmental disorder characterized by motor delay, intellectual disability, and hypotonia 9. The paternal allele near KCNK9 influences body mass index through parent-of-origin effects 10.

Sources cited
1
KCNK9 conducts voltage-dependent outward rectifying currents through ion flux gating mechanism
PMID: 11042359
2
KCNK9 voltage sensing coupled to K+ electrochemical gradient in ion flux gating mode
PMID: 11431495
3
KCNK9 changes ion selectivity upon acidification via His-98 protonation, stabilizing C-type inactivation
PMID: 22948150
4
KCNK9 homo- and heterodimerizes with distinct regulatory and gating properties
PMID: 23169818
5
KCNK9 exhibits maternal-specific imprinted expression restricted to brain tissue
PMID: 17704508
6
KCNK9 is amplified 3-10 fold and overexpressed in 44% of breast tumors; overexpression promotes tumor formation and resistance to hypoxia
PMID: 12676587
7
KCNK9 silencing in melanoma causes mitochondrial depolarization and triggers apoptosis
PMID: 25318378
8
KCNK9-targeting monoclonal antibodies reduce carcinoma viability and inhibit xenograft growth and metastasis
PMID: 26842342
9
KCNK9 mutations cause KCNK9 imprinting syndrome with motor delay, intellectual disability, and hypotonia
PMID: 35698242
10
Paternal KCNK9 allele has parent-of-origin effect on body mass index
PMID: 25078964
Disease Associationsβ“˜21
Birk-Barel syndromeOpen Targets
0.73Strong
respiratory system diseaseOpen Targets
0.46Moderate
lung diseaseOpen Targets
0.37Weak
acute respiratory distress syndromeOpen Targets
0.35Weak
COVID-19Open Targets
0.35Weak
sprainOpen Targets
0.34Weak
autism spectrum disorderOpen Targets
0.33Weak
coronary artery diseaseOpen Targets
0.33Weak
genetic disorderOpen Targets
0.33Weak
respiratory failureOpen Targets
0.32Weak
cancerOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.31Weak
major depressive disorderOpen Targets
0.31Weak
jaw diseaseOpen Targets
0.30Weak
eye diseaseOpen Targets
0.29Weak
sign or symptomOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.27Weak
ischemia reperfusion injuryOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.27Weak
cerebral arterial diseaseOpen Targets
0.26Weak
Birk-Barel syndromeUniProt
Pathogenic Variants7
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)Pathogenic
Birk-Barel syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 236
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)Likely pathogenic
not provided|Birk-Barel syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 131
NM_001282534.2(KCNK9):c.716T>C (p.Leu239Pro)Likely pathogenic
Birk-Barel syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 239
NM_001282534.2(KCNK9):c.391C>A (p.Arg131Ser)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 131
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)Likely pathogenic
Birk-Barel syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 237
NM_001282534.2(KCNK9):c.477G>A (p.Met159Ile)Likely pathogenic
Birk-Barel syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 159
NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)Pathogenic
Birk-Barel syndrome
β˜†β˜†β˜†β˜†2016β†’ Residue 236
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
KRT76Protein interaction88%KCNK18Protein interaction81%KCNK1Protein interaction79%KCNK10Protein interaction78%KCNK5Protein interaction76%KCNK3Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
15%
Lung
1%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KCNK9KRT76KCNK18KCNK1KCNK10KCNK5KCNK3
PROTEIN STRUCTURE
Preparing viewer…
PDB3P1N Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.09 [0.03–0.40]
RankingsWhere KCNK9 stands among ~20K protein-coding genes
  • #5,252of 20,598
    Most Researched91
  • #230of 1,025
    FDA-Approved Drug Targets7 Β· top quartile
  • #3,189of 5,498
    Most Pathogenic Variants7
  • #2,046of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedKCNK9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene.
PMID: 12676587
Cancer Cell Β· 2003
1.00
2
Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
PMID: 17704508
Hum Mol Genet Β· 2007
0.90
3
PMID: 23658958
0.80
4
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
PMID: 35698242
Genome Med Β· 2022
0.70
5
Effects of the ventilatory stimulant, doxapram on human TASK-3 (KCNK9, K2P9.1) channels and TASK-1 (KCNK3, K2P3.1) channels.
PMID: 31423744
Acta Physiol (Oxf) Β· 2020
0.60