PHKG2 - phosphorylase kinase catalytic subunit gamma 2 Gene

Also Known as GSD9C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5261

About PHKG2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,748,425-30,761,176 (from NCBI)

This gene has 11 transcripts (splice variants), 177 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 22.8), bone marrow (RPKM 6.1) and 24 other tissues.

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]

PHKG2 Products (2)

mRNA	Protein	Name
NM_000294.3	NP_000285.1	phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1
NM_001172432.2	NP_001165903.1	phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23455922	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHKG2 Protein Structure

Pkinase

0
100
200
300
406 a.a.

Protein Preferred Names	Protein Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform	PHK-gamma-LT

PHKG2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Anti Tag CoIP	33961781
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Y2H Array	32296183
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Pull Down	32707033
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Anti Tag CoIP	35271311
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Y2H Prey Pooling	32296183
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Anti Tag CoIP	26496610
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	TAP	23455922
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Validated Y2H	32296183
Intra	PHKG2	P15735	PHKA2	Homo sapiens	P46019	Anti Tag CoIP	28514442
Intra	PHKG2	P15735	MAGEA2	Homo sapiens	P43356	Validated Y2H	32296183
Intra	PHKG2	P15735	MAGEA2	Homo sapiens	P43356	Y2H Array	32296183
Intra	PHKG2	P15735	MAGEA2	Homo sapiens	P43356	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Glycogen Storage Disease Ixc	GSD9C Glycogen Storage Disease Type Ixc Gsd Ixc Glycogen Storage Disease Type 9c Glycogenosis Type 9c Glycogenosis Type Ixc Gsd Type 9c Gsd Type Ixc Glycogen Storage Disease 9c Alg Autosomal Liver Glycogenosis Gsd-Ixc Storage Disease, Glycogen, Type Ixc
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Gsd Due To Liver Phosphorylase Kinase Deficiency Gsd Type 9a Gsd Type 9c Gsd Type Ixa Gsd Type Ixc Glycogen Storage Disease Type 9a Glycogen Storage Disease Type 9c Glycogen Storage Disease Type Ixa Glycogen Storage Disease Type Ixc Glycogenosis Due To Liver Phosphorylase Kinase Deficiency Glycogenosis Type 9a Glycogenosis Type 9c Glycogenosis Type Ixa Glycogenosis Type Ixc Xlg
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Glycogen Storage Disease Ix
Glycogen Storage Disease Ixb	GSD9B Gsd Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Type 9b Glycogen Storage Disease Type Ixb Glycogenosis Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9b Glycogenosis Type Ixb Gsd Due To Liver And Muscle Phosphorylase Kinase Deficiency Gsd Type 9b Gsd Type Ixb Glycogenosis Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease 9b Gsd-Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle Storage Disease, Glycogen, Type Ixb
Phosphorylase Kinase Deficiency	Glycogen Storage Disease Type Ix Gsdix Phk Deficiency Phosphorylase B Kinase Deficiency Gsd Ix Glycogen Storage Disease, Type Ix Deficiency Of Phosphorylase Kinase
Glycogen Storage Disease Ixa	Glycogen Storage Disease Type 9a Glycogen Storage Disease Type Ixa Glycogenosis Type 9a Glycogenosis Type Ixa Gsd Type 9a Gsd Type Ixa Gsd9a
Glycogen Storage Disease Ixd	GSD9D Gsd Ixd Muscle Phosphorylase Kinase Deficiency Muscle Glycogenosis Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease Type 9d Glycogen Storage Disease Type 9e Glycogen Storage Disease Type Ixd Glycogen Storage Disease Type Ixe Glycogenosis Due To Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9d Glycogenosis Type 9e Glycogenosis Type Ixd Glycogenosis Type Ixe Gsd Due To Muscle Phosphorylase Kinase Deficiency Gsd Type 9d Gsd Type 9e Gsd Type Ixd Gsd Type Ixe Muscle Glycogenosis, X-Linked X-Linked Muscke Glycogenosis Glycogen Storage Disease 9d X-Linked Muscle Glycogenosis Storage Disease, Glycogen, Type Ixd
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10441	PHKG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22727	Phkg2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29241	Phkg2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PHKG2	VGNC	VGNC:44500
Rattus norvegicus	PHKG2	RGD	RGD:620024
Felis catus	PHKG2	VGNC	VGNC:68829
Bos taurus	PHKG2	VGNC	VGNC:32834
Macaca mulatta	PHKG2	VGNC	VGNC:75981
Mus musculus	PHKG2	MGD	MGI:1916211
Others	PHKG2	NCBI