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 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 autosomal dominant mental retardation 46. Is expressed in central nervous system; cerebellum; optic tectum; preoptic area; and telencephalon. 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 intellectual developmental disorder 46 | Alliance | Intellectual developmental disorder, autosomal dominant 46 | 617601 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ, C-terminal | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QG06
|
938 | ||||
|
UniProtKB:A0A8M9PYN5
|
1011 | ||||
|
UniProtKB:A0A8M9QK86
|
1030 | ||||
|
UniProtKB:A0A8M9QAC3
|
957 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
kcnq5a-202
(1)
|
Havana | 2790 nt | |
| mRNA |
kcnq5a-203
(1)
|
Havana | 518 nt |
Interactions and Pathways
No data available
Plasmids
No data available