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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]
PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2) is a Protein Coding gene. Diseases associated with PHKG2 include Glycogen Storage Disease Ixc and Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency. Among its related pathways are Signal transduction_PKA signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PHKG1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IEA,TAS | 10487978 |
GO:0004689 | phosphorylase kinase activity | IEA,TAS | 10487978 |
GO:0005515 | protein binding | IPI | 23455922 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005964 | phosphorylase kinase complex | IEA,TAS | 10487978 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
2 | Glucose metabolism | ||
3 | Calcium signaling pathway | ||
4 | Glucagon signaling pathway | ||
5 | Regulation of lipid metabolism Insulin signaling-generic cascades |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005977 | glycogen metabolic process | TAS | 8896567 |
GO:0005978 | glycogen biosynthetic process | IEA | -- |
GO:0005980 | glycogen catabolic process | TAS | -- |
GO:0006091 | generation of precursor metabolites and energy | TAS | 8896567 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHKG2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PHKG2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PHKG2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PHKG2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Phkg2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHKG2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PHKG2 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10436 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | phkg2 30 31 |
|
OneToOne | |
zgc55863 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002647 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | PhKgamma 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y50D7A.3 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DUN1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
13629 | Pathogenic: Glycogen storage disease IXc | 30,751,551(+) | AC/A | FRAMESHIFT_VARIANT | |
639980 | Uncertain Significance: Glycogen storage disease IXc | 30,756,699(+) | C/A | MISSENSE_VARIANT | |
646983 | Uncertain Significance: Glycogen storage disease IXc | 30,748,891(+) | A/G | MISSENSE_VARIANT | |
647411 | Uncertain Significance: Glycogen storage disease IXc | 30,751,237(+) | G/A | MISSENSE_VARIANT | |
662397 | Uncertain Significance: Glycogen storage disease IXc | 30,751,254(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2438502 | CNV | insertion | 19546169 |
esv2714189 | CNV | deletion | 23290073 |
esv2714190 | CNV | deletion | 23290073 |
nsv1118349 | CNV | deletion | 24896259 |
nsv469724 | CNV | loss | 16826518 |
nsv833188 | CNV | loss | 17160897 |
nsv9438 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease ixc |
|
|
glycogen storage disease due to liver phosphorylase kinase deficiency |
|
|
glycogen storage disease |
|
|
phosphorylase kinase deficiency |
|
|
glycogen storage disease ix |
|
|