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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNV1
potassium voltage-gated channel modifier subfamily V member 1
Chromosome 8 · 8q23.2
NCBI Gene: 27012Ensembl: ENSG00000164794.9HGNC: HGNC:18861UniProt: Q6PIU1
14PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedIon ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingmembranevoltage-gated potassium channel complexmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeMuscle weakness
✦AI Summary

KCNV1 encodes Kv8.1, a 'silent' voltage-gated potassium channel subunit that cannot form functional channels independently but modulates the activity of Kv2 channels (KCNB1/KCNB2) by shifting inactivation thresholds to more negative values and slowing inactivation rates 1. KCNV1 can also inhibit Kv3 channels and down-regulate activity of KCNC4 and KCND1 2. The gene maps to chromosome 8.3, a locus associated with benign adult familial myoclonic epilepsy 2. Clinically, KCNV1 dysfunction is implicated in amyotrophic lateral sclerosis (ALS): expression is substantially reduced in ALS patient-derived motor neurons carrying SOD1(A4V) and C9orf72 mutations 1. Loss of KCNV1 expression increases motor neuron vulnerability to cell death through dysregulated metabolism and lipid/protein transport pathways, a phenotype rescued by knocking down Kv2.2 1. Loss-of-function zebrafish models show KCNV1 mutations cause seizure-like behavior, providing evidence for its role in human epilepsy 3. KCNV1 expression is downregulated in fast ripple-generating epilepsy brain regions, suggesting involvement in seizure onset zone formation 4. Additionally, KCNV1 can be a target for HPV integration in cervical cancer 5. In cardiac tissue, KCNV1 expression increases in response to catecholamine treatment, supporting electrical function in engineered cardiac patches 6.

Sources cited
1
KCNV1/Kv8.1 is a silent channel subunit that assembles with Kv2 to modify ion channel properties; downregulation in ALS patient neurons increases vulnerability to cell death through dysregulated metabolism
PMID: 38911266
2
KCNV1 maps to chromosome 8q23.3 (benign familial myoclonic epilepsy locus); does not display K+ channel activity but inhibits Kv2 and Kv3 channels
PMID: 14697513
3
KCNV1 loss-of-function in zebrafish causes seizure-like swim behavior, providing functional evidence for its role in human epilepsy
PMID: 38370728
4
KCNV1 is downregulated in fast ripple-generating brain areas in epilepsy models, implicating it in seizure onset zone generation
PMID: 25818007
5
KCNV1 is a frequent target for HPV integration in cervical cancer tissues
PMID: 40151001
6
KCNV1 expression increases in engineered cardiac patches treated with catecholamines, supporting electrical properties
PMID: 31916039
7
KCNV1/Kv8.1 forms functional heteromeric channels with Kv2 subunits and can be pharmacologically distinguished using selective inhibitors
PMID: 40423692
Disease Associationsⓘ20
multiple sclerosisOpen Targets
0.59Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
Muscle weaknessOpen Targets
0.46Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
scoliosisOpen Targets
0.41Moderate
cancerOpen Targets
0.37Weak
neoplasmOpen Targets
0.37Weak
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
nervous system neoplasmOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.37Weak
paraneoplastic neurologic syndromeOpen Targets
0.37Weak
small cell carcinomaOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets7
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
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
KCNA3Shared pathway100%KCNA6Shared pathway100%KCNA7Shared pathway100%KCNA10Shared pathway100%KCND1Shared pathway100%KCNV2Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KCNV1KCNA3KCNA6KCNA7KCNA10KCND1KCNV2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6PIU1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.02–0.18]
RankingsWhere KCNV1 stands among ~20K protein-coding genes
  • #15,899of 20,598
    Most Researched14
  • #344of 1,025
    FDA-Approved Drug Targets5
  • #332of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedKCNV1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Downregulation of the silent potassium channel Kv8.1 increases motor neuron vulnerability in amyotrophic lateral sclerosis.
PMID: 38911266
Brain Commun · 2024
1.00
2
Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene.
PMID: 14697513
Gene · 2004
0.90
3
Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.
PMID: 38370728
bioRxiv · 2024
0.80
4
New insights into tumor microenvironment and HPV integrations in cervical cancer pathogenesis revealed by single-cell transcriptome data.
PMID: 40151001
Hum Mol Genet · 2025
0.70
5
A Kv2 inhibitor combination reveals native neuronal conductances consistent with Kv2/KvS heteromers.
PMID: 40423692
Elife · 2025
0.60