Homo sapiens Protein: PHKG2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-375471.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PHKG2 | ||||||||||||||||||
Protein Name | phosphorylase kinase, gamma 2 (testis) | ||||||||||||||||||
Synonyms | GSD9C; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000388571 | ||||||||||||||||||
InnateDB Gene | IDBG-26879 (PHKG2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity). {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | |||||||||||||||||||
Disease Associations | Glycogen storage disease 9C (GSD9C) [MIM:613027]: 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. {ECO:0000269PubMed:12930917, ECO:0000269PubMed:8896567, ECO:0000269PubMed:9245685}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR002291 Phosphorylase kinase, gamma catalytic subunit IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 |
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PRINTS |
PR00109
PR01049 |
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PIRSF | |||||||||||||||||||
SMART |
SM00220
SM00219 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P15735 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P15735 | ||||||||||||||||||
TrEMBL | H3BTW6 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 5261 | ||||||||||||||||||
UniGene | Hs.668224 | ||||||||||||||||||
RefSeq | NP_001165903 | ||||||||||||||||||
HUGO | HGNC:8931 | ||||||||||||||||||
OMIM | 172471 | ||||||||||||||||||
CCDS | CCDS54002 | ||||||||||||||||||
HPRD | 01405 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC106886 AK289492 AK293551 BC002541 M14503 M31606 Y11950 Y11951 | ||||||||||||||||||
GenPept | AAA36442 AAA36518 AAH02541 BAF82181 BAG57028 CAA72694 | ||||||||||||||||||