Gene
kcnb1
- ID
- ZDB-GENE-090831-3
- Name
- potassium voltage-gated channel, Shab-related subfamily, member 1
- Symbol
- kcnb1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated potassium channel activity. Involved in epiboly and ventricular system development. Predicted to localize to voltage-gated potassium channel complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 26. Is expressed in brain; central canal; otic vesicle; and ventricular system. Orthologous to human KCNB1 (potassium voltage-gated channel subfamily B member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Shen et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 26 | Alliance | Developmental and epileptic encephalopathy 26 | 616056 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000210 | BTB/POZ domain |
| Domain | IPR003131 | Potassium channel tetramerisation-type BTB domain |
| Domain | IPR005821 | Ion transport domain |
| Family | IPR003968 | Potassium channel, voltage dependent, Kv |
| Family | IPR003973 | Potassium channel, voltage dependent, Kv2 |
| Family | IPR004350 | Potassium channel, voltage dependent, Kv2.1 |
| Homologous_superfamily | IPR011333 | SKP1/BTB/POZ domain superfamily |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
| Protein | Length | BTB/POZ domain | Ion transport domain | Potassium channel tetramerisation-type BTB domain | Potassium channel, voltage dependent, Kv | Potassium channel, voltage dependent, Kv2 | Potassium channel, voltage dependent, Kv2.1 | SKP1/BTB/POZ domain superfamily | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8Q685
|
834 |
Interactions and Pathways
No data available
Plasmids
No data available