Homo sapiens Gene: PHKA2
Summary
InnateDB Gene IDBG-49021.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHKA2
Gene Name phosphorylase kinase, alpha 2 (liver)
Synonyms GSD9A; PHK; PYK; PYKL; XLG; XLG2;
Species Homo sapiens
Ensembl Gene ENSG00000044446
Encoded Proteins
phosphorylase kinase, alpha 2 (liver)
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, and the hepatic isoform is encoded by this gene. 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, which are encoded by two different genes. 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:18892300-18984598
Strand Reverse strand
Band p22.13
Transcripts
ENST00000379942 ENSP00000369274
ENST00000481718
ENST00000469485
ENST00000473597
ENST00000473739
ENST00000469645
ENST00000486231
ENST00000464455
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004689 phosphorylase kinase activity
GO:0005516 calmodulin binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005976 polysaccharide metabolic process
GO:0005980 glycogen catabolic process
GO:0006006 glucose metabolic process
GO:0006091 generation of precursor metabolites and energy
GO:0006464 cellular protein modification process
GO:0006468 protein phosphorylation
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005964 phosphorylase kinase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Glycogen breakdown (glycogenolysis) pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
Calcium signaling pathway pathway
Insulin signaling pathway pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.54941
RefSeq NM_000292 XM_006724496 XM_006724498
HUGO
OMIM
CCDS CCDS14190
HPRD 02380
IMGT
EMBL
GenPept
RNA Seq Atlas