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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNS2
potassium voltage-gated channel modifier subfamily S member 2
Chromosome 8 · 8q22.2
NCBI Gene: 3788Ensembl: ENSG00000156486.8HGNC: HGNC:6301UniProt: Q9ULS6
13PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembraneplasma membraneperinuclear region of cytoplasmmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeMuscle weakness
✦AI Summary

KCNS2 encodes Kv9.2, an electrically silent potassium channel regulatory subunit that modulates delayed rectifier voltage-gated potassium channel activity by forming functional heterotetrameric channels with KCNB1 (Kv2.1) and KCNB2 (Kv2.2) 1. KCNS2 alters channel kinetics, expression levels, and voltage-dependent inactivation properties, with each regulatory subunit exhibiting unique modulatory effects 1. In neurons, Kv2/KCNS2 heteromeric channels predominate in dorsal root ganglion neurons and can be distinguished pharmacologically from Kv2-only channels using selective inhibitors 1. Disease relevance includes essential tremor (ET): a heterozygous KCNS2 mutation (p.D379E) cosegregates with ET in families and causes neuronal hyperexcitability and altered sleep patterns in a Drosophila model 2. The mutation increased potassium channel inactivation and spontaneous neuronal firing rates, supporting pathogenicity 2. KCNS2 has also been identified as a circulating cell-free DNA methylation biomarker for pancreatic cancer early detection 3. Additionally, KCNS2 expression patterns correlate with cortical thickness changes in normative brain development and psychiatric disorders, with peak expression during pubertal neurodevelopment 4. These findings establish KCNS2 as crucial for neuronal excitability regulation and implicate its dysfunction in neurological and psychiatric disease pathogenesis.

Sources cited
1
KCNS2 (Kv9.2) forms functional heteromeric channels with Kv2.1/KCNB1 and Kv2.2/KCNB2, and pharmacological distinction of Kv2/KvS heteromers in neurons
PMID: 40423692
2
KCNS2 p.D379E mutation causes essential tremor, neuronal hyperexcitability, and altered sleep in a Drosophila model
PMID: 29769701
3
KCNS2 variants identified in essential tremor families with high expression in cerebellum and Purkinje cells
PMID: 26508575
4
KCNS2 identified as a circulating cell-free DNA methylation biomarker for pancreatic cancer detection
PMID: 40129923
5
KCNS2 expression patterns correlate with cortical thickness changes in brain development and psychiatric disorders during pubertal transition
PMID: 36380235
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
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
cancerOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
neoplasmOpen 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
neuromuscular junction 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
KCNS3Shared pathway100%FAUProtein interaction91%KCNA3Shared pathway83%KCNA6Shared pathway83%KCNA7Shared pathway83%KCNA10Shared pathway83%
Tissue Expression6 tissues
Brain
100%
Ovary
31%
Lung
5%
Heart
3%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
KCNS2KCNS3FAUKCNA3KCNA6KCNA7KCNA10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9ULS6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.52 [0.35–0.80]
RankingsWhere KCNS2 stands among ~20K protein-coding genes
  • #16,197of 20,598
    Most Researched13
  • #346of 1,025
    FDA-Approved Drug Targets5
  • #6,698of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedKCNS2
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
Circulating cell-free DNA methylation analysis of pancreatic cancer patients for early noninvasive diagnosis.
PMID: 40129923
Front Oncol · 2025
0.86
3
A Drosophila Model of Essential Tremor.
PMID: 29769701
Sci Rep · 2018
0.71
4
A Kv2 inhibitor combination reveals native neuronal conductances consistent with Kv2/KvS heteromers.
PMID: 40423692
Elife · 2025
0.57
5
Identification of candidate genes for familial early-onset essential tremor.
PMID: 26508575
Eur J Hum Genet · 2016
0.43