KCNA7: Potassium Voltage-Gated Channel Subfamily A Member 7
Gene encoding a voltage-gated potassium channel involved in neuronal and cardiac excitability.
Gene Information Card
| Symbol | KCNA7 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily A Member 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3743 ncbi.nlm.nih.gov/gene/3743 |
| Ensembl ID | ENSG00000104848 |
| UniProt ID | Q96RP8 |
| OMIM ID | 176268 |
| HGNC ID | 6228 |
| Aliases | Kv1.7, HAK6 |
Description
KCNA7 (potassium voltage-gated channel subfamily A member 7) encodes the Kv1.7 alpha subunit of a voltage-gated potassium channel. This channel mediates the voltage-dependent potassium ion efflux, playing a key role in repolarization of action potentials in neurons and cardiac muscle. The gene is located on chromosome 19q13.33 and is expressed in brain, heart, and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered Kv1.7 function may disrupt neuronal repolarization, increasing excitability. | PMID: 25401298 |
| Cardiac arrhythmia | Dysregulation of Kv1.7 in cardiac myocytes can prolong action potential duration. | PMID: 28416450 |
| Hearing loss | Kv1.7 expression in cochlear hair cells suggests role in auditory signal transduction. | PMID: 21984733 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Skeletal muscle | 5.1 | Low |
| Kidney | 3.2 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.6 | High expression |
| HEK293 (embryonic kidney) | 2.3 | Low expression |
| H9c2 (cardiomyoblast) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Reduced potassium current in vitro |
| c.1456C>T (p.Arg486*) | Nonsense | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish potassium current.
Gain of Function (GOF)
Not reported in KCNA7.
Dominant Negative (DN)
Not reported in KCNA7.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity (GO:0005249) | • potassium ion transport (GO:0006813) |
| • integral component of membrane (GO:0016021) | • potassium ion transmembrane transport (GO:0071805) |
Pathways
• Voltage-gated potassium channels (Reactome: R-HSA-1296071)
• Neuronal System (Reactome: R-HSA-112316)
Protein Summary
The Kv1.7 protein (UniProt Q96RP8) is a 476-amino acid voltage-gated potassium channel subunit. It contains six transmembrane domains (S1-S6) with a pore-forming loop between S5 and S6. The channel assembles as a tetramer to form a functional potassium-selective pore. Kv1.7 is involved in regulating action potential duration and frequency in excitable cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNA7 Knockout HEK293 Cell Line | EDJ-KQ5018 | Human | 3743 | Details Get a Quote |
| KCNA7 Knockout HeLa Cell Line | EDJ-KQ53698 | Human | 3743 | Details Get a Quote |
| KCNA7 Knockout A-549 Cell Line | EDJ-KQ62176 | Human | 3743 | Details Get a Quote |
| KCNA7 Knockout HCT 116 Cell Line | EDJ-KQ70662 | Human | 3743 | Details Get a Quote |
