ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in action potential and potassium ion transmembrane transport. Predicted to act upstream of or within potassium ion transport and transmembrane transport. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in membrane. Is expressed in central nervous system; heart; and inner ear. Human ortholog(s) of this gene implicated in benign neonatal seizures and developmental and epileptic encephalopathy 7. 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 | Additional Resources | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ2 |
|---|---|---|---|---|---|
| UniProtKB:A8KB98 | InterPro | 349 |
- Genome Browsers
| 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
- Genome Browsers