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 voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to act upstream of or within monoatomic ion transmembrane transport and potassium ion transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Is expressed in central nervous system and eye. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 46. Orthologous to human KCNQ5 (potassium voltage-gated channel subfamily Q member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 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 |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 46 | Alliance | Intellectual developmental disorder, autosomal dominant 46 | 617601 |
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, KCNQ, C-terminal | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QG06 | InterPro | 938 | ||||
| UniProtKB:A0A8M9PYN5 | InterPro | 1011 | ||||
| UniProtKB:A0A8M9QK86 | InterPro | 1030 | ||||
| UniProtKB:A0A8M9QAC3 | InterPro | 957 | ||||
| UniProtKB:A0AB32SZU7 | InterPro | 1009 | ||||
| UniProtKB:A0AB32T6V2 | InterPro | 1028 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnq5a-201
(1)
|
Ensembl | 3,353 nt | ||
| mRNA |
kcnq5a-202
(1)
|
Ensembl | 2,790 nt | ||
| mRNA |
kcnq5a-203
(1)
|
Ensembl | 518 nt | ||
| mRNA |
kcnq5a-204
(1)
|
Ensembl | 1,353 nt |
Interactions and Pathways
No data available
Plasmids
No data available