KCNH6
Potassium Voltage-Gated Channel Subfamily H Member 6
Gene Information Card
| Symbol | KCNH6 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily H Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 81033 ncbi.nlm.nih.gov/gene/81033 |
| Ensembl ID | ENSG00000157551 |
| UniProt ID | Q9H252 |
| OMIM ID | 608168 |
| HGNC ID | 18862 |
| Aliases | ERG2, Kv11.2, HERG2 |
Description
KCNH6 encodes a member of the voltage-gated potassium channel subfamily H (Kv11.2). This channel is involved in the repolarization phase of the cardiac action potential and is expressed in various tissues including brain and heart. Mutations in KCNH6 have been associated with long QT syndrome and other arrhythmic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT Syndrome | Loss-of-function mutations reduce potassium current, prolonging cardiac repolarization | ClinVar, OMIM |
| Cardiac Arrhythmia | Altered channel kinetics disrupt action potential duration | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.8 | Low |
| Brain | 2.1 | Medium |
| Adrenal Gland | 1.5 | Low |
| Testis | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 1.2 | Neuronal cell line |
| HEK 293 | 0.5 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Reduced potassium current |
| c.567delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations reduce channel activity, leading to prolonged QT interval.
Gain of Function (GOF)
Not well documented for KCNH6.
Dominant Negative (DN)
Possible for some missense variants, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • membrane depolarization during action potential | • protein homooligomerization |
Pathways
• Cardiac conduction
• Potassium channels
Protein Summary
KCNH6 encodes the Kv11.2 potassium channel alpha subunit. It forms functional homotetrameric channels that conduct rapidly activating and slowly inactivating outward potassium currents (IKr-like). The protein is critical for cardiac repolarization and neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNH6 Knockout HEK293 Cell Line | EDJ-KQ9602 | Human | 81033 | Details Get a Quote |
| KCNH6 Knockout HeLa Cell Line | EDJ-KQ57364 | Human | 81033 | Details Get a Quote |
| KCNH6 Knockout A-549 Cell Line | EDJ-KQ65870 | Human | 81033 | Details Get a Quote |
| KCNH6 Knockout HCT 116 Cell Line | EDJ-KQ74297 | Human | 81033 | Details Get a Quote |
