KCND2: Potassium Voltage-Gated Channel Subfamily D Member 2
Key regulator of neuronal and cardiac excitability, associated with neurodevelopmental disorders and arrhythmias.
Gene Information Card
| Symbol | KCND2 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily D Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 3753 ncbi.nlm.nih.gov/gene/3753 |
| Ensembl ID | ENSG00000184486 |
| UniProt ID | Q9NZV8 |
| OMIM ID | 605410 |
| HGNC ID | 6238 |
| Aliases | Kv4.2, KIAA1044 |
Description
KCND2 encodes the Kv4.2 voltage-gated potassium channel, which mediates a transient outward potassium current (I_to) in neurons and cardiac myocytes. This channel is critical for action potential repolarization, dendritic signal integration, and regulation of neuronal excitability. Mutations in KCND2 are linked to neurodevelopmental disorders, epilepsy, and cardiac arrhythmias.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile | Loss-of-function mutations reduce potassium current, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Brugada syndrome 9 | Gain-of-function mutations increase I_to, predisposing to ventricular arrhythmias | ClinVar, OMIM |
| Intellectual disability | Missense variants impair channel trafficking or gating, affecting synaptic plasticity | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants identified in ASD cohorts, altering channel kinetics | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Heart (left ventricle) | 8.3 | Medium |
| Skeletal muscle | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| iPSC-derived cardiomyocytes | 9.8 | Moderate expression |
| HEK293 | 0.3 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1019C>T (p.Thr340Met) | Missense | Rare | Loss-of-function; reduced current density |
| c.1126G>A (p.Gly376Ser) | Missense | Rare | Gain-of-function; increased peak current |
| c.1432G>A (p.Glu478Lys) | Missense | Rare | Dominant-negative; impaired trafficking |
Mutation functional classification
Loss of Function (LOF)
Reduced potassium current leads to prolonged action potential duration and neuronal hyperexcitability, associated with epileptic encephalopathy.
Gain of Function (GOF)
Increased I_to shortens action potential duration, predisposing to Brugada syndrome and arrhythmias.
Dominant Negative (DN)
Mutant subunits co-assemble with wild-type channels, reducing overall functional channel number.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • transmembrane transport |
| • regulation of membrane potential | • action potential repolarization |
| • dendrite morphogenesis |
Pathways
• Cardiac conduction
• Neuronal action potential
• Ion channel transport
Protein Summary
Kv4.2 is a pore-forming alpha subunit of a voltage-gated potassium channel. It assembles as a tetramer and interacts with auxiliary subunits (KChIPs, DPP6) to form functional channels. The protein is highly expressed in brain and heart, where it mediates transient outward currents essential for rapid repolarization. Mutations can alter channel gating, expression, or trafficking, leading to neurological and cardiac disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCND2 Knockout HEK293 Cell Line | EDJ-KQ5022 | Human | 3751 | Details Get a Quote |
| KCND2 Knockout HeLa Cell Line | EDJ-KQ53705 | Human | 3751 | Details Get a Quote |
| KCND2 Knockout A-549 Cell Line | EDJ-KQ62183 | Human | 3751 | Details Get a Quote |
| KCND2 Knockout HCT 116 Cell Line | EDJ-KQ70668 | Human | 3751 | Details Get a Quote |
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