Version 5.4
Homo sapiens Gene: PHKG2
Summary
InnateDB Gene IDBG-26879.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHKG2
Gene Name phosphorylase kinase, gamma 2 (testis)
Synonyms GSD9C
Species Homo sapiens
Ensembl Gene ENSG00000156873
Encoded Proteins
IDBP-26881
phosphorylase kinase, gamma 2 (testis)
IDBP-375471
phosphorylase kinase, gamma 2 (testis)
IDBP-746584
IDBP-746787
IDBP-744747
IDBP-753727
IDBP-750751
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:30748270-30761176
Strand Forward strand
Band p11.2
Transcripts
ENST00000328273 ENSP00000329968
ENST00000424889 ENSP00000388571
ENST00000564838
ENST00000565897 ENSP00000457359
ENST00000561712 ENSP00000457194
ENST00000569762
ENST00000563588 ENSP00000455607
ENST00000563913
ENST00000563607 ENSP00000454641
ENST00000569684
ENST00000565924 ENSP00000455091
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 24 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004689 phosphorylase kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0050321 tau-protein kinase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0005980 glycogen catabolic process
GO:0006006 glucose metabolic process
GO:0006091 generation of precursor metabolites and energy
GO:0006468 protein phosphorylation
GO:0009103 lipopolysaccharide biosynthetic process
GO:0044281 small molecule metabolic process
GO:0045819 positive regulation of glycogen catabolic process
Cellular Component
GO:0005575 cellular_component
GO:0005829 cytosol
GO:0005964 phosphorylase kinase complex
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030815
View Gene Order
ENSBTAG00000003417
Not yet available
Pathways
NETPATH
REACTOME
REACT_1008
Glycogen breakdown (glycogenolysis) pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_111217
Metabolism pathway
REACT_116125
Disease pathway
REACT_723
Glucose metabolism pathway
REACT_200833
Glycogen storage diseases pathway
KEGG
hsa04910
Insulin signaling pathway pathway
hsa04020
Calcium signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.642296 Hs.65735 Hs.668224
RefSeq NM_000294 NM_001172432 XM_005255363 XM_005255365 XM_006721054
HUGO
OMIM
CCDS CCDS10690 CCDS54002
HPRD 01405
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca