Gene
kcnq2a
- ID
- ZDB-GENE-080220-37
- Name
- potassium voltage-gated channel, KQT-like subfamily, member 2a
- Symbol
- kcnq2a Nomenclature History
- Previous Names
-
- zgc:171872
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have calmodulin binding activity and delayed rectifier potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to localize to voltage-gated potassium channel complex. Human ortholog(s) of this gene implicated in benign neonatal seizures and early infantile epileptic encephalopathy 7. Is expressed in central nervous system; heart; and inner ear. Orthologous to human KCNQ2 (potassium voltage-gated channel subfamily Q member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| benign neonatal seizures | Alliance | Myokymia | 121200 |
| benign neonatal seizures | Alliance | Seizures, benign neonatal, 1 | 121200 |
| developmental and epileptic encephalopathy 7 | Alliance | Developmental and epileptic encephalopathy 7 | 613720 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ2 |
|---|---|---|---|---|
|
UniProtKB:A8KB98
|
349 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnq2a-201
(1)
|
Ensembl | 1,263 nt | ||
| mRNA |
kcnq2a-202
(1)
|
Ensembl | 2,679 nt |
Interactions and Pathways
No data available
Plasmids
No data available