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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNC4
potassium voltage-gated channel subfamily C member 4
Chromosome 1 · 1p13.3
NCBI Gene: 3749Ensembl: ENSG00000116396.15HGNC: HGNC:6236UniProt: H7BZ66
31PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
voltage-gated potassium channel activityprotein bindingpostsynaptic membranevoltage-gated potassium channel complexmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeMuscle weakness
✦AI Summary

KCNC4 encodes Kv3.4, a voltage-gated potassium channel that opens in response to transmembrane voltage gradients, permitting potassium ion flow according to their electrochemical gradient 1. The channel displays rapid activation and inactivation kinetics 1 and is expressed in cardiac tissue, with Kv3.4 transcripts highly abundant in both human atrium and ventricle 2. KCNC4 is located on chromosome 1 3. Disease relevance: KCNC4 has emerged as a candidate gene in multiple neurodevelopmental and genetic conditions. It was identified as a novel candidate risk gene for autism spectrum disorder in a Qatari cohort 4 and as a candidate disease gene in a Saudi Arabian diagnostic sequencing study of Mendelian phenotypes 5. In osteosarcoma, KCNC4 functions as a target of miR-214-3p within a regulatory axis involving the long non-coding RNA LINC01535; KCNC4 overexpression promotes osteosarcoma cell proliferation, migration, and invasion 6. In head and neck squamous cell carcinomas, increased KCNC4 expression correlates with higher cancer risk and malignant transformation, with functional studies showing that KCNC4 inhibition suppresses cell proliferation via G2/M cell cycle arrest 7. These findings indicate KCNC4 involvement extends beyond ion homeostasis to include roles in neurodevelopmental and oncological processes.

Sources cited
1
KCNC4 is a voltage-gated potassium channel with rapid activation and inactivation kinetics that permits potassium ion flow
PMID: 7993631
2
Kv3.4 (KCNC4) transcripts are highly abundant in human cardiac atrium and ventricle
PMID: 16257073
3
KCNC4 (Kv3.4) is localized to human chromosome 1
PMID: 1740329
4
KCNC4 identified as a novel candidate risk gene for autism spectrum disorder in a Qatari genome sequencing cohort
PMID: 39519104
5
KCNC4 identified as a candidate disease gene in Saudi Arabian diagnostic genetic panel and exome sequencing study
PMID: 28600779
6
KCNC4 is a target of miR-214-3p in osteosarcoma and its overexpression promotes cell proliferation, migration, and invasion
PMID: 32753970
7
Increased KCNC4 expression correlates with higher cancer risk in head and neck squamous cell carcinomas; KCNC4 inhibition suppresses cell proliferation via G2/M arrest
PMID: 20593490
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
neurodegenerative diseaseOpen Targets
0.42Moderate
cancerOpen Targets
0.38Weak
neoplasmOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen 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 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
KCNE1Protein interaction99%KCNE3Protein interaction95%FAUProtein interaction91%KCNC1Protein interaction91%KCNC3Protein interaction91%KCNAB1Protein interaction91%
Tissue Expression6 tissues
Ovary
100%
Heart
89%
Lung
65%
Brain
55%
Bone Marrow
45%
Liver
22%
Gene Interaction Network
Click a node to explore
KCNC4KCNE1KCNE3FAUKCNC1KCNC3KCNAB1
PROTEIN STRUCTURE
Preparing viewer…
PDB1B4G · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.41–0.80]
RankingsWhere KCNC4 stands among ~20K protein-coding genes
  • #11,733of 20,598
    Most Researched31
  • #330of 1,025
    FDA-Approved Drug Targets5
  • #6,707of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedKCNC4
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.
PMID: 39519104
Int J Mol Sci · 2024
0.90
3
The role of metabolic memory in diabetic kidney disease: identification of key genes and therapeutic targets.
PMID: 39092227
Front Pharmacol · 2024
0.80
4
Gene expression profiling of human cardiac potassium and sodium channels.
PMID: 16257073
Int J Cardiol · 2006
0.70
5
LINC01535 Promotes the Development of Osteosarcoma Through Modulating miR-214-3p/KCNC4 Axis.
PMID: 32753970
Cancer Manag Res · 2020
0.60