Gene
phka2
- ID
- ZDB-GENE-130422-1
- Name
- phosphorylase kinase, alpha 2 (liver)
- Symbol
- phka2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have calmodulin binding activity and catalytic activity. Predicted to be involved in glycogen metabolic process. Predicted to localize to plasma membrane. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease IXa. Orthologous to human PHKA2 (phosphorylase kinase regulatory subunit alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Burkhalter et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Burkhalter et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
glycogen storage disease IXa | Alliance | Glycogen storage disease, type IXa1 | 306000 |
glycogen storage disease IXa | Alliance | Glycogen storage disease, type IXa2 | 306000 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
visceral heterotaxy | WT + MO1-phka2 | standard conditions | Burkhalter et al., 2019 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR011613 | GH15-like domain |
Domain | IPR045583 | Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain |
Family | IPR008734 | Phosphorylase kinase alpha/beta subunit |
Homologous_superfamily | IPR008928 | Six-hairpin glycosidase superfamily |
Homologous_superfamily | IPR012341 | Six-hairpin glycosidase-like superfamily |
Domain Details Per Protein
Protein | Length | GH15-like domain | Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain | Phosphorylase kinase alpha/beta subunit | Six-hairpin glycosidase-like superfamily | Six-hairpin glycosidase superfamily |
---|---|---|---|---|---|---|
UniProtKB:A0A8M9QI67
|
1224 | |||||
UniProtKB:F1R3D9
|
1216 | |||||
UniProtKB:A0A8N7TE73
|
1206 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance