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PHKG2 phosphorylase kinase, gamma 2 (testis) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000294 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
NM_001172432 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_005255363 PREDICTED: Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_005255364 PREDICTED: Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_005255365 PREDICTED: Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_006721054 PREDICTED: Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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Gene Symbol PHKG2
Entrez Gene ID 5261
Full Name phosphorylase kinase, gamma 2 (testis)
Synonyms GSD9C
General protein information
Preferred Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
PSK-C3
PHK-gamma-T
PHK-gamma-LT
phosphorylase kinase subunit gamma-2
serine/threonine-protein kinase PHKG2
Phosphorylase kinase, gamma 2 (testis/liver)
phosphorylase b kinase gamma catalytic chain, testis/liver isoform
NP_000285.1
NP_001165903.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p11.2

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].
Disorder

MIM: 172471

Glycogen storage disease IXc, 613027 (3); Cirrhosis due to liver

mRNA Protein Product Sequence Price Select
NM_000294, 289063420 NP_000285, 4505785 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1 ORF Sequence $269.00
NM_001172432, 289063421 NP_001165903, 289063422 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2 ORF Sequence $400.00
XM_005255363, 530408220 XP_005255420, 530408221 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform X1 ORF Sequence $400.00
XM_005255364, 530408222 XP_005255421, 530408223 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform X2 ORF Sequence $300.00
XM_005255365, 578828574 XP_005255422, 530408225 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform X3 ORF Sequence $300.00
XM_006721054, 578828572 XP_006721117, 578828573 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform X4 ORF Sequence $300.00
KEGG
hsa04020Calcium signaling pathway
hsa04910Insulin signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_1008Glycogen breakdown (glycogenolysis)
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PHKG2NP_000285.1
Pan troglodytes (chimpanzee)PHKG2XP_001144282.2
Macaca mulatta (Rhesus monkey)LOC100423096XP_002802499.1
Canis lupus familiaris (dog)PHKG2XP_005621329.1
Bos taurus (cattle)PHKG2NP_001039593.1
Mus musculus (house mouse)Phkg2NP_081164.2
Danio rerio (zebrafish)phkg2NP_957256.1
Drosophila melanogaster (fruit fly)PhKgammaNP_727548.1
Caenorhabditis elegansY50D7A.3NP_497181.2
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0005977glycogen metabolic processTAS
GO:0005978glycogen biosynthetic processIEA
GO:0005980glycogen catabolic processTAS
GO:0006006glucose metabolic processTAS
GO:0006091generation of precursor metabolites and energyTAS
GO:0006468protein phosphorylationIEA
GO:0044281small molecule metabolic processTAS
GO:0045819positive regulation of glycogen catabolic processTAS
Component
IDNameEvidence
GO:0005575cellular_componentND
GO:0005829cytosolTAS
GO:0005964phosphorylase kinase complexTAS
Function
IDNameEvidence
GO:0004674protein serine/threonine kinase activityTAS
GO:0004689phosphorylase kinase activityTAS
GO:0005516calmodulin bindingIEA
GO:0005524ATP bindingIEA
GO:0050321tau-protein kinase activityTAS
GeneCards PHKG2
UniProt J3KNN3, P15735
Vega OTTHUMG00000132400
MIM 172471
Ensembl ENSG00000156873
HGNC 8931
HPRD 01405

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PHKG2 gene?

The PHKG2 gene provides instructions for making one piece, the gamma subunit, of the phosphorylase b kinase enzyme. This enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. (Each subunit is produced from a different gene.) The gamma subunit performs the function of phosphorylase b kinase enzyme, and the other subunits help regulate its activity. This enzyme is found in various tissues, although it is most abundant in the liver and muscles. One version of the enzyme is found in liver cells and another in muscle cells. The gamma-2 subunit produced from the PHKG2 gene is part of the enzyme found in the liver.

Phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance to maintain normal levels of glucose in the blood between meals. Phosphorylase b kinase turns on (activates) another enzyme called glycogen phosphorylase b by converting it to the more active form, glycogen phosphorylase a. When active, this enzyme breaks down glycogen.

Interactant

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