Gene
atp1a2a
- ID
- ZDB-GENE-001212-6
- Name
- ATPase Na+/K+ transporting subunit alpha 2a
- Symbol
- atp1a2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have sodium:potassium-exchanging ATPase activity. Involved in several processes, including animal organ development; heart contraction; and thigmotaxis. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; benign neonatal seizures; familial hemiplegic migraine 2; hypertension; and migraine with aura. Is expressed in several structures, including Kupffer's vesicle; brain; heart; musculature system; and pronephric duct. Orthologous to human ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb702 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alternating hemiplegia of childhood | Alliance | Alternating hemiplegia of childhood 1 | 104290 |
| developmental and epileptic encephalopathy 98 | Alliance | Developmental and epileptic encephalopathy 98 | 619605 |
| familial hemiplegic migraine 2 | Alliance | Migraine, familial basilar | 602481 |
| familial hemiplegic migraine 2 | Alliance | Migraine, familial hemiplegic, 2 | 602481 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 619602 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004014 | Cation-transporting P-type ATPase, N-terminal |
| Domain | IPR006068 | Cation-transporting P-type ATPase, C-terminal |
| Domain | IPR044492 | P-type ATPase, haloacid dehalogenase domain |
| Family | IPR001757 | P-type ATPase |
| Family | IPR005775 | P-type ATPase subfamily IIC, subunit alpha |
| Homologous_superfamily | IPR008250 | P-type ATPase, A domain superfamily |
| Homologous_superfamily | IPR023214 | HAD superfamily |
| Homologous_superfamily | IPR023298 | P-type ATPase, transmembrane domain superfamily |
| Homologous_superfamily | IPR023299 | P-type ATPase, cytoplasmic domain N |
| Homologous_superfamily | IPR036412 | HAD-like superfamily |
| PTM | IPR018303 | P-type ATPase, phosphorylation site |
Domain Details Per Protein
| Protein | Length | Cation-transporting P-type ATPase, C-terminal | Cation-transporting P-type ATPase, N-terminal | HAD-like superfamily | HAD superfamily | P-type ATPase | P-type ATPase, A domain superfamily | P-type ATPase, cytoplasmic domain N | P-type ATPase, haloacid dehalogenase domain | P-type ATPase, phosphorylation site | P-type ATPase subfamily IIC, subunit alpha | P-type ATPase, transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q9DGL5
|
1017 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
atp1a2a-201
(1)
|
Havana | 3907 nt |
Interactions and Pathways
No data available
Plasmids
No data available