KCNS2: Potassium Voltage-Gated Channel Modifier Subfamily S Member 2
A regulatory beta subunit of voltage-gated potassium channels involved in neuronal excitability and cardiac repolarization.
Gene Information Card
| Symbol | KCNS2 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Modifier Subfamily S Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 3788 ncbi.nlm.nih.gov/gene/3788 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9UJ96 |
| OMIM ID | 605603 |
| HGNC ID | 6298 |
| Aliases | Kv9.2, KCNB2 |
Description
KCNS2 encodes a voltage-gated potassium channel beta subunit (Kv9.2) that does not form functional channels alone but modulates the gating properties of Kv2 family alpha subunits. It is primarily expressed in brain and heart, where it influences neuronal firing patterns and cardiac action potential repolarization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered Kv2.1/Kv9.2 heteromeric channel kinetics may reduce neuronal repolarization reserve, increasing excitability. | ClinVar; PMID: 25741868 |
| Cardiac arrhythmia | Modulation of Kv2.1 currents by Kv9.2 affects cardiac repolarization; variants may predispose to long QT syndrome. | ClinVar; PMID: 19862833 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 4.1 | Low |
| Lung | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 1.5 | Low expression |
| H9c2 | 6.8 | Cardiomyocyte line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Altered channel gating; associated with epilepsy |
| c.782G>A (p.Arg261His) | Missense | <0.01% | Reduced current density; potential arrhythmia risk |
Mutation functional classification
Loss of Function (LOF)
p.Arg261His reduces potassium current by impairing heteromeric channel assembly.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
p.Arg349Trp may exert dominant-negative effects on Kv2.1/Kv9.2 channels.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG hsa04010: MAPK signaling pathway
• Reactome R-HSA-1296072: Voltage gated potassium channels
• Reactome R-HSA-5576892: Cardiac conduction
Protein Summary
Kv9.2 is a 495-amino acid regulatory subunit with six transmembrane domains. It lacks a functional voltage sensor and pore loop, requiring co-assembly with Kv2 alpha subunits to modulate channel inactivation kinetics and voltage dependence. Expressed predominantly in brain and heart, it fine-tunes neuronal and cardiac excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNS2 Knockout HEK293 Cell Line | EDJ-KQ5052 | Human | 3788 | Details Get a Quote |
| KCNS2 Knockout HeLa Cell Line | EDJ-KQ53729 | Human | 3788 | Details Get a Quote |
| KCNS2 Knockout A-549 Cell Line | EDJ-KQ62206 | Human | 3788 | Details Get a Quote |
| KCNS2 Knockout HCT 116 Cell Line | EDJ-KQ70693 | Human | 3788 | Details Get a Quote |
