PHKG2
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:172471 Ensembl IDEnsembl:ENSG00000156873 HGNC IDHGNC:HGNC:8931 PHARMGKB IDPA33272 Map Location16p11.2 | |||||
GO terms in PHKG2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ND | GO:0005575 | cellular_component |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005964 | phosphorylase kinase complex |
| BP | TAS | GO:0005977 | glycogen metabolic process |
| BP | IEA | GO:0005978 | glycogen biosynthetic process |
Gene expression in normal tissue: PHKG2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PHKG2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04910 | Insulin signaling pathway - Homo sapiens (human) |
| kegg | hsa04922 | Glucagon signaling pathway - Homo sapiens (human) |
| wikipathways | WP500 | Glycogen Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-70221 | Glycogen breakdown (glycogenolysis) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PHKG2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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