Gene
kcnh5a
- ID
- ZDB-GENE-061106-2
- Name
- potassium voltage-gated channel, subfamily H (eag-related), member 5a
- Symbol
- kcnh5a Nomenclature History
- Previous Names
-
- kcnh5
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport and regulation of membrane potential. Predicted to act upstream of or within monoatomic ion transmembrane transport and potassium ion transport. Predicted to be located in membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human KCNH5 (potassium voltage-gated channel subfamily H member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Developmental and epileptic encephalopathy 112 | 620537 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000014 | PAS domain |
| Domain | IPR000595 | Cyclic nucleotide-binding domain |
| Domain | IPR000700 | PAS-associated, C-terminal |
| Domain | IPR005821 | Ion transport domain |
| Family | IPR003938 | Potassium channel, voltage-dependent, EAG/ELK/ERG-like |
| Family | IPR003949 | Potassium channel, voltage-dependent, EAG |
| Family | IPR050818 | Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type |
| Homologous_superfamily | IPR014710 | RmlC-like jelly roll fold |
| Homologous_superfamily | IPR018490 | Cyclic nucleotide-binding domain superfamily |
| Homologous_superfamily | IPR035965 | PAS domain superfamily |
| Repeat | IPR001610 | PAC motif |
Domain Details Per Protein
| Protein | Length | Cyclic nucleotide-binding domain | Cyclic nucleotide-binding domain superfamily | Ion transport domain | PAC motif | PAS-associated, C-terminal | PAS domain | PAS domain superfamily | Potassium channel, voltage-dependent, EAG | Potassium channel, voltage-dependent, EAG/ELK/ERG-like | Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B3DJV7
|
1093 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnh5a-201
(1)
|
Ensembl | 3,424 nt | ||
| mRNA |
kcnh5a-202
(1)
|
Ensembl | 787 nt |
Interactions and Pathways
No data available
Plasmids
No data available