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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.
KCNQ3
potassium voltage-gated channel subfamily Q member 3
Chromosome 8 Β· 8q24.22
NCBI Gene: 3786Ensembl: ENSG00000184156.18HGNC: HGNC:6297UniProt: E7ET42
98PubMed Papers
21Diseases
9Drugs
56Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingvoltage-gated potassium channel complexplasma membranevoltage-gated monoatomic cation channel activityBenign familial neonatal seizuresSeizuremultiple sclerosisepilepsy
✦AI Summary

KCNQ3 encodes a pore-forming subunit of voltage-gated potassium (Kv7) M-channels that controls neuronal excitability 123. KCNQ3 assembles with KCNQ2 as heterotetramers to form functional channels, though evidence suggests flexible stoichiometry allowing homomeric composition in some neurons 415. The M-current produced exhibits slowly activating/deactivating potassium conductance that regulates subthreshold neuronal excitability and synaptic responsiveness 413. The channel shows preferential K+ permeability (K+ > Rb+ > Cs+ > Na+) and can be modulated by muscarinic acetylcholine receptor activation 36. Pathogenic KCNQ3 variants cause a spectrum of neurodevelopmental disorders ranging from benign familial neonatal seizures to severe developmental and epileptic encephalopathies 789. Loss-of-function and gain-of-function mutations impair channel gating through distinct mechanisms affecting voltage-sensor movement 9. Kv7.2/7.3 channel activation represents a validated therapeutic target; multiple Kv7 activators (including azetukalner and pynegabine) are in clinical development for seizure management 1011. Emerging evidence demonstrates that polyunsaturated fatty acids can functionally restore certain KCNQ3 mutations, suggesting novel therapeutic approaches 9.

Sources cited
1
Pathogenic KCNQ3 variants cause a spectrum of neurodevelopmental disorders ranging from benign familial neonatal seizures to severe developmental and epileptic encephalopathies , , .
PMID: 39300259
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Benign familial neonatal seizuresOpen Targets
0.80Strong
SeizureOpen Targets
0.64Moderate
multiple sclerosisOpen Targets
0.59Moderate
epilepsyOpen Targets
0.56Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
benign neonatal seizuresOpen Targets
0.55Moderate
Rolandic epilepsyOpen Targets
0.47Moderate
Intellectual disabilityOpen Targets
0.47Moderate
self-limited epilepsy with centrotemporal spikesOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.47Moderate
Muscle weaknessOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
benign familial infantile epilepsyOpen Targets
0.38Weak
cancerOpen Targets
0.38Weak
neoplasmOpen Targets
0.38Weak
nervous system diseaseOpen Targets
0.37Weak
Seizures, benign familial neonatal 2UniProt
Pathogenic Variants56
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)Pathogenic
Seizures, benign familial neonatal, 2|Benign neonatal seizures|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 330
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)Pathogenic
not provided|Inborn genetic diseases|Seizures, benign familial neonatal, 2|Benign neonatal seizures|See cases|Seizure
β˜…β˜…β˜†β˜†2025β†’ Residue 230
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2|not provided|KCNQ3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 330
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 364
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)Pathogenic
not provided|Seizures, benign familial neonatal, 2|Severe neurodevelopmental delay|Seizures, benign familial infantile, 5|Benign neonatal seizures|Intellectual disability|Benign neonatal seizures;Lennox-Gastaut syndrome;Intellectual disability|KCNQ3-related developmental disability|Severe intellectual disability|Neurodevelopmental disorder|KCNQ3-related Autism and developmental disability|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 230
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2|KCNQ3-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 317
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val)Pathogenic
not provided|Benign neonatal seizures
β˜…β˜…β˜†β˜†2022β†’ Residue 306
NM_004519.4(KCNQ3):c.115G>T (p.Glu39Ter)Pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 39
NM_004519.4(KCNQ3):c.1576C>T (p.Gln526Ter)Pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 526
NM_004519.4(KCNQ3):c.958G>A (p.Gly320Arg)Pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 320
NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer)Pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 20
NM_004519.4(KCNQ3):c.1799+1G>CLikely pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025
NM_004519.4(KCNQ3):c.1264C>T (p.Gln422Ter)Pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 422
NM_004519.4(KCNQ3):c.61_77dup (p.Asn27fs)Pathogenic
Benign neonatal seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 27
NM_004519.4(KCNQ3):c.1066G>T (p.Ala356Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 356
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 364
NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe)Likely pathogenic
Seizures, benign familial neonatal, 2|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 279
NM_004519.4(KCNQ3):c.928G>T (p.Gly310Cys)Likely pathogenic
Seizures, benign familial neonatal, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 310
NM_004519.4(KCNQ3):c.778-2A>GLikely pathogenic
Seizures, benign familial neonatal, 2
β˜…β˜†β˜†β˜†2025
NM_004519.4(KCNQ3):c.1060G>A (p.Gly354Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 354
View on ClinVar β†—
Drug Targets9
AMIFAMPRIDINEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
AMIFAMPRIDINE PHOSPHATEApproved
Voltage-gated potassium channel blocker
Lambert-Eaton myasthenic syndrome
DALFAMPRIDINEApproved
Voltage-gated potassium channel blocker
multiple sclerosis
EZOGABINEApproved
KCNQ (Kv7) potassium channel opener
Seizure
FLINDOKALNERPhase III
Voltage-gated potassium channel KCNQ3/KCNQ4 activator
nervous system injury
GUANIDINEPhase III
Voltage-gated potassium channel blocker
neuroendocrine neoplasm
GUANIDINE HYDROCHLORIDEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
TEDISAMILApproved
Voltage-gated potassium channel blocker
cardiac arrhythmia
Related Genes
CHRNA4Protein interaction100%CALM3Protein interaction100%SPTBN4Protein interaction100%NFASCProtein interaction100%CALML3Protein interaction99%CALML5Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Lung
14%
Heart
6%
Bone Marrow
3%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
KCNQ3CHRNA4CALM3SPTBN4NFASCCALML3CALML5
PROTEIN STRUCTURE
Preparing viewer…
PDB5J03 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.33 [0.24–0.46]
RankingsWhere KCNQ3 stands among ~20K protein-coding genes
  • #4,888of 20,598
    Most Researched98 Β· top quartile
  • #271of 1,025
    FDA-Approved Drug Targets6
  • #1,229of 5,498
    Most Pathogenic Variants56 Β· top quartile
  • #2,577of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedKCNQ3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
PMID: 33004838
Nat Commun Β· 2020
1.00
2
Potassium channels and epilepsy.
PMID: 36225112
Acta Neurol Scand Β· 2022
0.90
3
PMID: 24851285
0.80
4
Targeting Kv7 Potassium Channels for Epilepsy.
PMID: 39853501
CNS Drugs Β· 2025
0.70
5
Differential chromatin accessibility and transcriptional dynamics define breast cancer subtypes and their lineages.
PMID: 39478117
Nat Cancer Β· 2024
0.60