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 enable calmodulin binding activity. Predicted to be involved in glycogen metabolic process. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be located in 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
Expression
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
Phenotype
All Phenotype Data
1 Figure from Burkhalter et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With phka2 Human Ortholog
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
Associated With phka2 Via Experimental Models
Gene Ontology
Protein Domains
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:F1R3D9 1216
UniProtKB:A0A2R8QLD1 1211
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations