KCNC3
Potassium Voltage-Gated Channel Subfamily C Member 3
Gene Information Card
| Symbol | KCNC3 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily C Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3748 ncbi.nlm.nih.gov/gene/3748 |
| Ensembl ID | ENSG00000131398 |
| UniProt ID | Q14003 |
| OMIM ID | 176264 |
| HGNC ID | 6235 |
| Aliases | Kv3.3, KSHIIID, SCA13 |
Description
KCNC3 encodes the Kv3.3 subunit of voltage-gated potassium channels, which are critical for rapid repolarization of action potentials in neurons. Mutations in KCNC3 are associated with spinocerebellar ataxia type 13 (SCA13), a neurodegenerative disorder characterized by cerebellar dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 13 (SCA13) | Missense mutations alter channel gating, leading to altered neuronal excitability and cerebellar degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 30.2 | High |
| Cerebral cortex | 15.8 | Medium |
| Hippocampus | 12.1 | Medium |
| Spinal cord | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 25.0 | Neuroblastoma cell line |
| U-87 MG | 18.3 | Glioblastoma cell line |
| HEK 293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg420His | Missense | Rare | Alters channel inactivation kinetics, gain-of-function |
| p.Arg423His | Missense | Rare | Reduces current amplitude, loss-of-function |
| p.Phe448Leu | Missense | Rare | Alters voltage dependence, dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg423His reduces potassium current amplitude.
Gain of Function (GOF)
p.Arg420His accelerates channel inactivation.
Dominant Negative (DN)
p.Phe448Leu co-assembles with wild-type subunits to impair channel function.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • membrane depolarization | • neuronal action potential |
Pathways
• Voltage-gated potassium channels
• Neuronal system
• Transmission across chemical synapses
Protein Summary
Kv3.3 is a voltage-gated potassium channel subunit that forms tetrameric channels. It is highly expressed in cerebellar Purkinje cells and mediates rapid repolarization, enabling high-frequency firing. Mutations disrupt channel function, leading to cerebellar ataxia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNC3 Knockout HEK293 Cell Line | EDJ-KQ50403 | Human | 3748 | Details Get a Quote |
| KCNC3 Knockout HeLa Cell Line | EDJ-KQ53703 | Human | 3748 | Details Get a Quote |
| KCNC3 Knockout A-549 Cell Line | EDJ-KQ62181 | Human | 3748 | Details Get a Quote |
| KCNC3 Knockout HCT 116 Cell Line | EDJ-KQ70667 | Human | 3748 | Details Get a Quote |
