• Gene id: 5261

Gene Summary

• Gene Symbol: PHKG2   Gene   UCSC   Ensembl
• Aliases: GSD9C
• Gene name: phosphorylase kinase catalytic subunit gamma 2
• Alternate names: phosphorylase b kinase gamma catalytic chain, liver/testis isoform, PHK-gamma-LT, PHK-gamma-T, PSK-C3, Phosphorylase kinase, gamma 2 (testis/liver), phosphorylase b kinase gamma catalytic chain, testis/liver isoform, phosphorylase kinase gamma subunit 2, phospho,
• Gene location: 16p11.2 (30748298: 30761175)     Exons: 4     NC_000016.10
• Gene summary(Entrez): 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 i
• OMIM: 172471

Protein Summary

• Protein general information: P15735  
  • Name: Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (PHK gamma LT) (PHK gamma T) (EC 2.7.11.19) (PSK C3) (Phosphorylase kinase subunit gamma 2)
  • Length: 406  
  • Mass: 46442
• Sequence:

  MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATR
  RETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIV
  HRDLKPENILLDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFT
  LLAGSPPFWHRRQILMLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPW
  NLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQ
  HRPPGPFPIMGPEEEGDSAAITEDEAVLVLG

• Structural information:
  • Protein Domains: (24..29-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR002291  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 2Y7J
  • PDBsum: 2Y7J
  • STRING: ENSP00000455607
• Other Databases: GeneCards:  PHKG2  Malacards:  PHKG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050321	tau-protein kinase activity	TAS	molecular function
GO:0004689	phosphorylase kinase activity	TAS	molecular function
GO:0045819	positive regulation of glycogen catabolic process	TAS	biological process
GO:0005964	phosphorylase kinase complex	TAS	cellular component
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004689	phosphorylase kinase activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005964	phosphorylase kinase complex	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004689	phosphorylase kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0005977	glycogen metabolic process	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0004689	phosphorylase kinase activity	IEA	molecular function
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0004689	phosphorylase kinase activity	IEA	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005964	phosphorylase kinase complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04910	Insulin signaling pathway
hsa04922	Glucagon signaling pathway

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type IX	KEGG:H01948
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type IX	KEGG:H01948
Glycogen storage disease	PMID:8896567
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray