Gene
kcnq5a
- ID
- ZDB-GENE-090312-185
- Name
- potassium voltage-gated channel, KQT-like subfamily, member 5a
- Symbol
- kcnq5a Nomenclature History
- Previous Names
-
- si:dkey-29l6.1
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity and delayed rectifier potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to act upstream of or within potassium ion transport; regulation of ion transmembrane transport; and transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be integral component of membrane. Is expressed in central nervous system; cerebellum; optic tectum; preoptic area; and telencephalon. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 46. Orthologous to human KCNQ5 (potassium voltage-gated channel subfamily Q member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Chege et al., 2012
- 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 |
|---|---|---|---|
| autosomal dominant mental retardation 46 | Alliance | Mental retardation, autosomal dominant 46 | 617601 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR013821 | Potassium channel, voltage dependent, KCNQ, C-terminal |
| Family | IPR003937 | Potassium channel, voltage dependent, KCNQ |
| Family | IPR028325 | Voltage-gated potassium channel |
| Family | IPR043238 | Potassium voltage-gated channel subfamily KQT member 5 |
Domain Details Per Protein
| Protein | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ, C-terminal | Potassium voltage-gated channel subfamily KQT member 5 | Voltage-gated potassium channel |
|---|---|---|---|---|---|---|
|
UniProtKB:F1Q5A8
|
973 | |||||
|
UniProtKB:A0A2R8QR27
|
432 | |||||
|
UniProtKB:B8JHS5
|
929 | |||||
|
UniProtKB:F1R7Y2
|
173 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
kcnq5a-202
(1)
|
2790 nt | |
| mRNA |
kcnq5a-203
(1)
|
518 nt |
Interactions and Pathways
No data available
Plasmids
No data available