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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNF1
potassium voltage-gated channel modifier subfamily F member 1
Chromosome 2 · 2p25.1
NCBI Gene: 3754Ensembl: ENSG00000162975.6HGNC: HGNC:6246UniProt: Q9H3M0
12PubMed Papers
20Diseases
7Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpotassium ion transmembrane transportmembranepotassium ion transportmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeMuscle weakness
✦AI Summary

KCNF1 (Kv5.1) is a regulatory alpha-subunit of voltage-gated potassium channels that modulates Kv2 channel function through heteromeric assembly with KCNB1 or KCNB2 1. When coassembled, KCNF1 modulates channel expression and gating kinetics, accelerating inactivation while markedly slowing it when coexpressed with Kv2 subunits, with effects dependent on subunit stoichiometry. KCNF1 alone cannot produce functional potassium currents [UniProt]. In neurons, Kv2/KCNF1 heteromeric channels show distinct pharmacological profiles and contribute substantially to dorsal root ganglion conductances 1. Beyond ion channel regulation, KCNF1 functions ion-independently as a nuclear protein in lung cancer pathogenesis, promoting NSCLC through ITGB4 signaling; silencing KCNF1 reduces proliferation and enhances cisplatin sensitivity 2. Clinically, KCNF1 autoantibodies have been identified in treatment-resistant epilepsy patients with early seizure onset, including Lennox-Gastaut and mesial temporal lobe epilepsy cases, suggesting potential autoimmune pathophysiology 3. KCNF1 is also implicated in renal ciliogenesis 4, cancer prognosis [PMID:36397112; 57], and alcohol preference 6. These findings indicate KCNF1 has dual roles in ion channel modulation and non-canonical cancer-related signaling.

Sources cited
1
KCNF1 forms functional heteromers with KCNB1/KCNB2; Kv2/KvS heteromers are resistant to RY785 but sensitive to GxTX; predominate in dorsal root ganglion neurons
PMID: 40423692
2
KCNF1 is upregulated in NSCLC; silencing reduces proliferation and tumor progression; localizes to nucleoplasm; promotes lung cancer through ITGB4 signaling in ion-independent manner
PMID: 36385523
3
Anti-KCNF1 antibodies identified in 4 epilepsy patients with treatment-resistant epilepsy, early seizure onset, including Lennox-Gastaut syndrome and mesial temporal lobe epilepsy
PMID: 35305445
4
KCNF1 localizes to renal tubule base and primary cilia; regulates renal ciliogenesis
PMID: 26546361
5
KCNF1 included in 6-gene TMB-related risk score for laryngeal cancer prognosis
PMID: 36397112
6
KCNF1 identified as predictor of breast cancer lung metastasis in causal Bayesian network analysis
PMID: 33083937
7
KCNF1 identified among ion channel genes associated with alcohol preference in genomic selection signatures
PMID: 27490364
8
KCNF1 may be ancestral voltage-gated potassium channel subfamily member
PMID: 24318840
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
neurodegenerative diseaseOpen Targets
0.45Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
neoplasmOpen Targets
0.38Weak
immune system diseaseOpen Targets
0.37Weak
cancerOpen Targets
0.37Weak
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
nervous system neoplasmOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.37Weak
neuromuscular junction diseaseOpen Targets
0.37Weak
paraneoplastic neurologic syndromeOpen Targets
0.37Weak
small cell carcinomaOpen Targets
0.37Weak
Pathogenic Variants1
NM_002236.5(KCNF1):c.845T>C (p.Leu282Pro)Likely pathogenic
Moyamoya angiopathy
☆☆☆☆→ Residue 282
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
FAUProtein interaction91%KCNV2Shared pathway83%KCNV1Shared pathway83%KCND1Shared pathway83%KCNA10Shared pathway83%KCNA7Shared pathway83%
Tissue Expression6 tissues
Brain
100%
Heart
3%
Bone Marrow
1%
Lung
1%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KCNF1FAUKCNV2KCNV1KCND1KCNA10KCNA7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H3M0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.86Intermediate
Observed/Expected LoF0.33 [0.20–0.58]
RankingsWhere KCNF1 stands among ~20K protein-coding genes
  • #16,479of 20,598
    Most Researched12
  • #347of 1,025
    FDA-Approved Drug Targets5
  • #5,464of 5,498
    Most Pathogenic Variants1
  • #3,878of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedKCNF1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Kv5.1 antibody in epilepsy patients with unknown etiology.
PMID: 35305445
Epilepsy Res · 2022
1.00
2
A Kv2 inhibitor combination reveals native neuronal conductances consistent with Kv2/KvS heteromers.
PMID: 40423692
Elife · 2025
0.90
3
KCNF1 promotes lung cancer by modulating ITGB4 expression.
PMID: 36385523
Cancer Gene Ther · 2023
0.80
4
The prognostic value of tumor mutational burden related 6-gene-based Risk Score in laryngeal cancer patients.
PMID: 36397112
BMC Oral Health · 2022
0.70
5
Evolutionary analysis of voltage-gated potassium channels by Bayes method.
PMID: 24318840
J Mol Neurosci · 2014
0.60