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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.
KCNQ5
potassium voltage-gated channel subfamily Q member 5
Chromosome 6 Β· 6q13
NCBI Gene: 56479Ensembl: ENSG00000185760.18HGNC: HGNC:6299UniProt: Q9NR82
51PubMed Papers
21Diseases
9Drugs
33Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
potassium ion transmembrane transportplasma membraneprotein bindingvoltage-gated potassium channel complexintellectual disability, autosomal dominant 46Intellectual disabilitymultiple sclerosisepilepsy
✦AI Summary

KCNQ5 encodes a voltage-gated potassium channel subunit broadly expressed in the brain that regulates neuronal excitability 1234. The protein forms functional channels with KCNQ3 to generate M-type currents, a slowly activating potassium conductance critical for controlling subthreshold neuronal excitability 23. KCNQ5 also forms channels with KCNQ1 that may contribute to vasoconstriction 5, and recent evidence demonstrates its central role in perivascular adipose tissue-mediated vasodilation through oxylipin-dependent activation of smooth muscle KV7.5 channels 6. Channel gating requires phosphatidylinositol 4,5-bisphosphate (PIP2) binding at two distinct sites between voltage-sensing and pore domains 78. De novo KCNQ5 variants cause developmental and epileptic encephalopathy through both gain-of-function (hyperpolarized activation, slowed deactivation) and loss-of-function mechanisms 9. Loss-of-function variants are also implicated in genetic generalized epilepsies with absence seizures, functioning through decreased current density and dominant-negative effects 10. KCNQ5 is widely distributed in temporal neocortex and hippocampus 11, making it a therapeutic target for anticonvulsants and potentially other neurological disorders.

Sources cited
1
KCNQ5 is broadly expressed in brain and involved in regulation of neuronal excitability
PMID: 10787416
2
KCNQ5 associates with KCNQ3 to form M-type channels and contributes to M-current; supports muscarinic receptor suppression
PMID: 10816588
3
KCNQ5-KCNQ3 channels generate M-type currents critical for neuronal subthreshold excitability
PMID: 11159685
4
KCNQ5 forms functional channel with KCNQ1 that may contribute to vasoconstriction and hypertension
PMID: 24855057
5
KCNQ5 regulates neuronal excitability in brain
PMID: 28669405
6
KCNQ5 controls perivascular adipose tissue-mediated vasodilation through oxylipin activation of smooth muscle KV7.5 channels
PMID: 38354270
7
PIP2 activates KCNQ5 through two different binding modes between voltage-sensing and pore domains
PMID: 40172963
8
PIP2 acts as bridge coupling voltage-sensing and pore domains in neuronal KCNQ channel opening
PMID: 34767770
9
De novo KCNQ5 variants cause developmental delay, intellectual disability, and epilepsy through gain-of-function and loss-of-function mechanisms
PMID: 35583973
10
Loss-of-function KCNQ5 variants cause genetic generalized epilepsy through decreased current density and dominant-negative effects
PMID: 36088682
11
KCNQ5 is widely distributed in temporal neocortex and hippocampus; potential anticonvulsant drug target
PMID: 12890507
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 46Open Targets
0.71Strong
Intellectual disabilityOpen Targets
0.64Moderate
multiple sclerosisOpen Targets
0.59Moderate
epilepsyOpen Targets
0.56Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
SeizureOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
Muscle weaknessOpen Targets
0.46Moderate
schizophreniaOpen Targets
0.44Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
myopiaOpen Targets
0.43Moderate
obesityOpen Targets
0.42Moderate
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.40Weak
genetic disorderOpen Targets
0.39Weak
HypermetropiaOpen Targets
0.39Weak
neoplasmOpen Targets
0.38Weak
cancerOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
Intellectual developmental disorder, autosomal dominant 46UniProt
Pathogenic Variants33
NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 46
β˜…β˜…β˜†β˜†2025β†’ Residue 178
NM_019842.4(KCNQ5):c.1105C>A (p.Pro369Thr)Pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 46
β˜…β˜…β˜†β˜†2025β†’ Residue 369
NM_019842.4(KCNQ5):c.1075C>T (p.Arg359Cys)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 359
NM_019842.4(KCNQ5):c.1039G>A (p.Gly347Ser)Likely pathogenic
Inborn genetic diseases|Global developmental delay
β˜…β˜…β˜†β˜†2019β†’ Residue 347
NM_019842.4(KCNQ5):c.1051G>T (p.Ala351Ser)Likely pathogenic
Intellectual disability, autosomal dominant 46
β˜…β˜†β˜†β˜†2025β†’ Residue 351
NM_019842.4(KCNQ5):c.1631A>G (p.Tyr544Cys)Likely pathogenic
Intellectual disability, autosomal dominant 46
β˜…β˜†β˜†β˜†2025β†’ Residue 544
NM_019842.4(KCNQ5):c.253del (p.Ala85fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 85
NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala)Pathogenic
Intellectual disability, autosomal dominant 46|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 347
NM_019842.4(KCNQ5):c.559C>T (p.Arg187Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 187
NM_019842.4(KCNQ5):c.739C>T (p.Arg247Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 247
NM_019842.4(KCNQ5):c.282_291del (p.Ser95fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 95
NM_019842.4(KCNQ5):c.84dup (p.Gly29fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 29
NM_019842.4(KCNQ5):c.273del (p.Lys92fs)Likely pathogenic
Intellectual disability, autosomal dominant 46
β˜…β˜†β˜†β˜†2024β†’ Residue 92
NM_019842.4(KCNQ5):c.1667G>C (p.Gly556Ala)Likely pathogenic
Intellectual disability, autosomal dominant 46
β˜…β˜†β˜†β˜†2024β†’ Residue 556
NM_019842.4(KCNQ5):c.51G>A (p.Trp17Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 17
NM_019842.4(KCNQ5):c.1248-3570T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_019842.4(KCNQ5):c.2T>C (p.Met1Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1
NM_019842.4(KCNQ5):c.642_645del (p.Ile214fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 214
NM_019842.4(KCNQ5):c.769del (p.Ser257fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 257
NM_019842.4(KCNQ5):c.1287C>A (p.Ser429Arg)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 429
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
KCNU1Shared pathway100%CALM3Protein interaction100%CALML3Protein interaction99%CALML5Protein interaction99%KCNJ2Protein interaction97%KCNJ4Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
20%
Lung
1%
Heart
1%
Liver
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
KCNQ5KCNU1CALM3CALML3CALML5KCNJ2KCNJ4
PROTEIN STRUCTURE
Preparing viewer…
PDB9J38 Β· 2.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.20–0.42]
RankingsWhere KCNQ5 stands among ~20K protein-coding genes
  • #8,692of 20,598
    Most Researched51
  • #276of 1,025
    FDA-Approved Drug Targets6
  • #1,733of 5,498
    Most Pathogenic Variants33
  • #2,195of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedKCNQ5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human
PMID: 35583973
J Neurophysiol Β· 2022
1.00
2
KCNQ5 Controls Perivascular Adipose Tissue-Mediated Vasodilation.
PMID: 38354270
Hypertension Β· 2024
0.90
3
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
PMID: 36088682
EBioMedicine Β· 2022
0.80
4
Phosphatidylinositol 4,5-bisphosphate activation mechanism of human KCNQ5.
PMID: 40172963
Proc Natl Acad Sci U S A Β· 2025
0.70
5
Structural insights into the lipid and ligand regulation of a human neuronal KCNQ channel.
PMID: 34767770
Neuron Β· 2022
0.60