Gene
kcnj2a
- ID
- ZDB-GENE-120319-1
- Name
- potassium inwardly rectifying channel subfamily J member 2a
- Symbol
- kcnj2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Exhibits inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of ion transmembrane transport. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Andersen-Tawil syndrome; familial atrial fibrillation; familial periodic paralysis; and short QT syndrome. Is expressed in atrium and cardiac ventricle. Orthologous to human KCNJ2 (potassium inwardly rectifying channel subfamily J member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 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 |
|---|---|---|---|
| Andersen-Tawil syndrome | Alliance | Andersen syndrome | 170390 |
| familial atrial fibrillation | Alliance | Atrial fibrillation, familial, 9 | 613980 |
| short QT syndrome | Alliance | Short QT syndrome 3 | 609622 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR013673 | Potassium channel, inwardly rectifying, Kir, N-terminal |
| Domain | IPR040445 | Potassium channel, inwardly rectifying, transmembrane domain |
| Domain | IPR041647 | Inward rectifier potassium channel, C-terminal |
| Family | IPR003271 | Potassium channel, inwardly rectifying, Kir2.1 |
| Family | IPR016449 | Potassium channel, inwardly rectifying, Kir |
| Homologous_superfamily | IPR013518 | Potassium channel, inwardly rectifying, Kir, cytoplasmic |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
Domain Details Per Protein
| Protein | Length | Immunoglobulin E-set | Inward rectifier potassium channel, C-terminal | Potassium channel, inwardly rectifying, Kir | Potassium channel, inwardly rectifying, Kir2.1 | Potassium channel, inwardly rectifying, Kir, cytoplasmic | Potassium channel, inwardly rectifying, Kir, N-terminal | Potassium channel, inwardly rectifying, transmembrane domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FGH1
|
427 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnj2a-201
(1)
|
Ensembl | 1,515 nt |
Interactions and Pathways
No data available
Plasmids