Entity Details

Primary name PHKG2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP15735
EntryNamePHKG2_HUMAN
FullNamePhosphorylase b kinase gamma catalytic chain, liver/testis isoform
TaxID9606
Evidenceevidence at protein level
Length406
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesPHKG2

GO terms

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GOName
GO:0004674 protein serine/threonine kinase activity
GO:0004689 phosphorylase kinase activity
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0005964 phosphorylase kinase complex
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0005980 glycogen catabolic process
GO:0006091 generation of precursor metabolites and energy
GO:0006468 protein phosphorylation
GO:0045819 positive regulation of glycogen catabolic process
GO:0050321 tau-protein kinase activity

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR002291 Phosphorylase kinase, gamma catalytic subunitFamilyFamily
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
613027 OMIMGlycogen storage disease 9C (GSD9C)A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. The disease is caused by variants affecting the gene represented in this entry.