KCNC2
Potassium Voltage-Gated Channel Subfamily C Member 2
Gene Information Card
| Symbol | KCNC2 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily C Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.1 |
| NCBI Gene ID | 3747 ncbi.nlm.nih.gov/gene/3747 |
| Ensembl ID | ENSG00000166006 |
| UniProt ID | Q96PR1 |
| OMIM ID | 176256 |
| HGNC ID | 6234 |
| Aliases | Kv3.2, KSHIIIA, KCNC2A, KCNC2B |
Description
KCNC2 encodes the Kv3.2 voltage-gated potassium channel, a member of the Shaw-related subfamily. This channel is critical for high-frequency action potential firing in neurons, particularly in fast-spiking GABAergic interneurons. Mutations in KCNC2 are associated with epilepsy and ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 51 | Loss-of-function mutations reduce potassium current, impairing neuronal repolarization and leading to hyperexcitability. | ClinVar, OMIM |
| Spinocerebellar ataxia type 13 | Missense mutations alter channel gating, causing cerebellar dysfunction. | OMIM |
| Epilepsy, idiopathic generalized, susceptibility to | Rare variants may contribute to polygenic epilepsy risk. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 18.3 | High |
| Cerebral cortex | 10.1 | Medium |
| Heart | 1.2 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
| U-87 MG (glioblastoma) | 6.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.959G>A (p.Arg320His) | Missense | 0.001% (gnomAD) | Reduced current density; associated with epileptic encephalopathy |
| c.1124C>T (p.Thr375Met) | Missense | 0.0005% (gnomAD) | Altered voltage dependence; linked to ataxia |
| c.1462G>A (p.Gly488Arg) | Missense | 0.0002% (gnomAD) | Dominant-negative effect; severe epilepsy phenotype |
Mutation functional classification
Loss of Function (LOF)
Reduced potassium conductance, neuronal hyperexcitability, epilepsy.
Gain of Function (GOF)
Not well documented for KCNC2; most pathogenic variants are loss-of-function.
Dominant Negative (DN)
p.Gly488Arg mutant subunits impair wild-type channel function, leading to severe phenotype.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • membrane depolarization | • action potential propagation |
| • neuronal action potential |
Pathways
• Potassium channels
• Neuronal System
• Transmission across Chemical Synapses
Protein Summary
Kv3.2 is a 638-amino acid protein with six transmembrane domains, forming a tetrameric voltage-gated potassium channel. It is highly expressed in fast-spiking interneurons and cerebellar Purkinje cells, enabling rapid repolarization during high-frequency firing. Alternative splicing yields isoforms with distinct kinetic properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNC2 Knockout HEK293 Cell Line | EDJ-KQ5020 | Human | 3747 | Details Get a Quote |
| KCNC2 Knockout HeLa Cell Line | EDJ-KQ53702 | Human | 3747 | Details Get a Quote |
| KCNC2 Knockout A-549 Cell Line | EDJ-KQ62180 | Human | 3747 | Details Get a Quote |
| KCNC2 Knockout HCT 116 Cell Line | EDJ-KQ70666 | Human | 3747 | Details Get a Quote |
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