Mus musculus Gene: Phka2
Summary
InnateDB Gene IDBG-182869.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Phka2
Gene Name phosphorylase kinase alpha 2
Synonyms 6330505C01Rik; D330034O08; Phk
Species Mus musculus
Ensembl Gene ENSMUSG00000031295
Encoded Proteins
phosphorylase kinase alpha 2
phosphorylase kinase alpha 2
phosphorylase kinase alpha 2
phosphorylase kinase alpha 2
phosphorylase kinase alpha 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000044446:
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:160502166-160598878
Strand Forward strand
Band F4
Transcripts
ENSMUST00000033652 ENSMUSP00000033652
ENSMUST00000112380 ENSMUSP00000107999
ENSMUST00000112377 ENSMUSP00000107996
ENSMUST00000112376 ENSMUSP00000107995
ENSMUST00000139587 ENSMUSP00000118575
ENSMUST00000146752
ENSMUST00000131765
ENSMUST00000154142
ENSMUST00000139496
ENSMUST00000153907
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
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:0005976 polysaccharide metabolic process
GO:0005977 glycogen metabolic process
GO:0006468 protein phosphorylation
Cellular Component
GO:0005886 plasma membrane
GO:0005964 phosphorylase kinase complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Disease pathway
Glucose metabolism pathway
Metabolism pathway
Glycogen breakdown (glycogenolysis) pathway
Glycogen storage diseases pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
KEGG
Insulin signaling pathway pathway
Calcium signaling pathway pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Glycogen breakdown (glycogenolysis) pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
Insulin signaling pathway pathway
Calcium signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL A2AHQ8
UniProt Splice Variant
Entrez Gene 110094
UniGene Mm.350712
RefSeq NM_001177878 NM_001177879 NM_172783 XM_006528679 XM_006528680 XM_006528681 XM_006528682
OMIM
CCDS CCDS30504 CCDS53237
HPRD
IMGT
MGI ID MGI:97577
MGI Symbol Phka2
EMBL AL731801 AL732450
GenPept
RNA Seq Atlas 110094