PHKG2 Gene Summary [Human]
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | PHKG2 |
| Official Name | phosphorylase kinase catalytic subunit gamma 2 [Source:HGNC Symbol;Acc:HGNC:8931] |
| Ensembl ID | ENSG00000156873 |
| Bio databases IDs | |
| Aliases | phosphorylase kinase catalytic subunit gamma 2 |
| Synonyms | 1500017I02Rik, GSD9C, LOC100909429, phosphorylase kinase catalytic subunit gamma 2, phosphorylase kinase catalytic subunit γ 2, phosphorylase kinase, gamma 2 (testis), phosphorylase kinase, γ 2 (testis) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PHKG2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- calmodulin binding
- Protein tyrosine and serine/threonine kinase
- ATP binding
- enzyme binding
- protein binding
- Protein kinase domain
- phosphorylase kinase
- kinase
- Serine/Threonine protein kinases, catalytic domain
- Protein Kinases, catalytic domain
- Tyrosine kinase, catalytic domain
Pathways
Biological processes and signaling networks where the PHKG2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glycogen storage disease type IXc
- hereditary disorder
- glycogen storage disease type IX
- Mauriac syndrome
role in cell
- phosphorylation in
- signaling in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHKG2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- generation of precursor metabolites and energy
- glycogen biosynthetic process
- glycogen metabolic process
- positive regulation of glycogen catabolic process
- glycogen catabolic process
- protein phosphorylation
Cellular Component
Where in the cell the gene product is active
- phosphorylase kinase complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- phosphorylase kinase activity
- tau-protein kinase activity
- ATP binding
- calmodulin binding
- protein binding
- protein serine/threonine kinase activity
- enzyme binding