KCNH5
Potassium Voltage-Gated Channel Subfamily H Member 5
Gene Information Card
| Symbol | KCNH5 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily H Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 27133 ncbi.nlm.nih.gov/gene/27133 |
| Ensembl ID | ENSG00000140015 |
| UniProt ID | Q9NQS3 |
| OMIM ID | 605716 |
| HGNC ID | 6252 |
| Aliases | EAG2, Kv10.2, hEAG2 |
Description
KCNH5 encodes the voltage-gated potassium channel Kv10.2 (EAG2), which is primarily expressed in the brain and involved in neuronal excitability, cell cycle regulation, and cancer progression. The channel conducts outward potassium currents upon membrane depolarization and is implicated in neurological disorders and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, early infantile epileptic encephalopathy | Loss-of-function mutations in KCNH5 reduce potassium current, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Intellectual disability | Missense variants impair channel function, affecting cognitive development | ClinVar, OMIM |
| Glioblastoma | Overexpression of KCNH5 promotes cell proliferation and tumor growth | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.5 | Neuroblastoma cell line |
| U87MG | 14.3 | Glioblastoma cell line |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1543G>A (p.Gly515Arg) | Missense | <0.01% | Loss of function, reduced current density |
| c.2020C>T (p.Arg674Trp) | Missense | <0.01% | Loss of function, altered gating |
| c.1234delC | Frameshift | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce potassium conductance, leading to neuronal hyperexcitability and epileptic encephalopathy.
Gain of Function (GOF)
Not reported in KCNH5; gain-of-function variants are rare in this gene.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by co-assembling with wild-type subunits, reducing overall channel function.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • membrane depolarization | • regulation of neuronal action potential |
| • cell cycle progression |
Pathways
• Potassium channels
• Neuronal system
• Ion transport by P-type ATPases
Protein Summary
The KCNH5 protein (Kv10.2) is a voltage-gated potassium channel subunit that forms homotetrameric or heterotetrameric channels. It contains six transmembrane domains, a pore-forming loop, and a cyclic nucleotide-binding domain. The channel is activated by membrane depolarization and mediates outward potassium currents, regulating neuronal excitability and cell proliferation. Mutations are associated with early infantile epileptic encephalopathy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNH5 Knockout HEK293 Cell Line | EDJ-KQ8690 | Human | 27133 | Details Get a Quote |
| KCNH5 Knockout HeLa Cell Line | EDJ-KQ34902 | Human | 27133 | Details Get a Quote |
| KCNH5 Knockout A-549 Cell Line | EDJ-KQ64498 | Human | 27133 | Details Get a Quote |
| KCNH5 Knockout HCT 116 Cell Line | EDJ-KQ72955 | Human | 27133 | Details Get a Quote |
