Gene
kcnh2a
- ID
- ZDB-GENE-070912-699
- Name
- potassium voltage-gated channel, subfamily H (eag-related), member 2a
- Symbol
- kcnh2a Nomenclature History
- Previous Names
-
- kcnh2
- kcnh2l
- si:dkeyp-99c4.6
- zerg-2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in several processes, including potassium ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ventricular cardiac muscle cell membrane repolarization. Predicted to act upstream of or within potassium ion transport; regulation of monoatomic ion transmembrane transport; and transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including digestive system; gill; heart; immune system; and muscle. Human ortholog(s) of this gene implicated in long QT syndrome; long QT syndrome 2; and short QT syndrome. Orthologous to human KCNH2 (potassium voltage-gated channel subfamily H member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 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 |
|---|---|---|---|
| long QT syndrome 2 | Alliance | Long QT syndrome 2 | 613688 |
| short QT syndrome | Alliance | Short QT syndrome 1 | 609620 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000014 | PAS domain |
| Domain | IPR000595 | Cyclic nucleotide-binding domain |
| Domain | IPR005821 | Ion transport domain |
| Family | IPR003967 | Potassium channel, voltage-dependent, ERG |
| Homologous_superfamily | IPR014710 | RmlC-like jelly roll fold |
| Homologous_superfamily | IPR018490 | Cyclic nucleotide-binding domain superfamily |
| Homologous_superfamily | IPR035965 | PAS domain superfamily |
Domain Details Per Protein
| Protein | Length | Cyclic nucleotide-binding domain | Cyclic nucleotide-binding domain superfamily | Ion transport domain | PAS domain | PAS domain superfamily | Potassium channel, voltage-dependent, ERG | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QKB0
|
918 | |||||||
|
UniProtKB:A0A8M9QG33
|
1254 | |||||||
|
UniProtKB:Q108P2
|
1253 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnh2a-201
(1)
|
Ensembl | 4,532 nt | ||
| mRNA |
kcnh2a-202
(1)
|
Ensembl | 3,999 nt |
Interactions and Pathways
No data available
Plasmids
No data available