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. Acts upstream of or within fin morphogenesis and negative regulation of calcineurin-mediated signaling. Predicted to be located in membrane and nucleus. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane. Is expressed in several structures, including digestive system; fin; gill; heart; and immune system. 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 | IPR003938 | Potassium channel, voltage-dependent, EAG/ELK/ERG-like |
| Family | IPR003967 | Potassium channel, voltage-dependent, ERG |
| 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 |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cyclic nucleotide-binding domain | Cyclic nucleotide-binding domain superfamily | Ion transport domain | PAS domain | PAS domain superfamily | Potassium channel, voltage-dependent, EAG/ELK/ERG-like | Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type | Potassium channel, voltage-dependent, ERG | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QKB0 | InterPro | 918 | |||||||||
| UniProtKB:A0A8M9QG33 | InterPro | 1254 | |||||||||
| UniProtKB:Q108P2 | InterPro | 1253 | |||||||||
| UniProtKB:A0A8M1N8U2 | InterPro | 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