KCNC4
Potassium Voltage-Gated Channel Subfamily C Member 4
Gene Information Card
| Symbol | KCNC4 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily C Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 3749 ncbi.nlm.nih.gov/gene/3749 |
| Ensembl ID | ENSG00000116396 |
| UniProt ID | Q03721 |
| OMIM ID | 176268 |
| HGNC ID | 6235 |
| Aliases | Kv3.4, HKSHIIIC, KSHIIIC |
Description
KCNC4 encodes the Kv3.4 voltage-gated potassium channel, which is primarily expressed in neurons and skeletal muscle. This channel mediates rapid repolarization of action potentials and is involved in high-frequency firing. Mutations in KCNC4 have been associated with neurodevelopmental disorders and myokymia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 13 | Missense mutations in KCNC4 alter channel gating, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Episodic ataxia type 1 | Loss-of-function variants reduce potassium current, causing cerebellar dysfunction | ClinVar, OMIM |
| Myokymia | Gain-of-function mutations increase channel activity, leading to muscle twitching | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 8.3 | Low |
| Skeletal muscle | 15.2 | Medium |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.0 | Neuronal model |
| HEK293 | 2.5 | Low expression |
| U-87 MG | 6.8 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1016G>A (p.Arg339His) | Missense | <0.01% | Alters voltage sensitivity, associated with ataxia |
| c.1244C>T (p.Thr415Met) | Missense | <0.01% | Reduces channel inactivation, linked to myokymia |
| c.1483G>A (p.Gly495Arg) | Missense | <0.01% | Gain-of-function, causes episodic ataxia |
Mutation functional classification
Loss of Function (LOF)
p.Arg339His reduces potassium current, leading to neuronal hyperexcitability.
Gain of Function (GOF)
p.Gly495Arg increases channel activity, causing myokymia.
Dominant Negative (DN)
No dominant-negative mutations currently reported in ClinVar.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • membrane depolarization | • action potential |
| • neuronal action potential |
Pathways
• Voltage-gated potassium channels
• Neuronal System
• Transmission across Chemical Synapses
Protein Summary
The Kv3.4 protein (UniProt Q03721) is a 611-amino acid voltage-gated potassium channel subunit that forms tetrameric channels. It features six transmembrane domains, a pore region, and an N-terminal inactivation ball. Kv3.4 channels activate at depolarized potentials and inactivate rapidly, enabling high-frequency action potential firing in neurons and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNC4 Knockout HEK293 Cell Line | EDJ-KQ5021 | Human | 3749 | Details Get a Quote |
| KCNC4 Knockout A-549 Cell Line | EDJ-KQ27932 | Human | 3749 | Details Get a Quote |
| KCNC4 Knockout HCT 116 Cell Line | EDJ-KQ27933 | Human | 3749 | Details Get a Quote |
| KCNC4 Knockout HeLa Cell Line | EDJ-KQ27934 | Human | 3749 | Details Get a Quote |
