• Gene id: 5256

Gene Summary

• Gene Symbol: PHKA2   Gene   UCSC   Ensembl
• Aliases: GSD9A, PHK, PYK, PYKL, XLG, XLG2
• Gene name: phosphorylase kinase regulatory subunit alpha 2
• Alternate names: phosphorylase b kinase regulatory subunit alpha, liver isoform, phosphorylase kinase alpha L subunit, phosphorylase kinase alpha-subunit, phosphorylase kinase, alpha 2 (liver),
• Gene location: Xp22.13 (18984113: 18892297)     Exons: 33     NC_000023.11
• 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, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the mus
• OMIM: 608002

Protein Summary

• Protein general information: P46019  
  • Name: Phosphorylase b kinase regulatory subunit alpha, liver isoform (Phosphorylase kinase alpha L subunit)
  • Length: 1235  
  • Mass: 138408
  • Tissue specificity: Predominantly expressed in liver and other non-muscle tissues.
• Sequence:

  MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMAYRKNADRDEDKAKAY
  ELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTATCGTVVGDDQWGHLQVDATSLFLLFLAQMTA
  SGLRIIFTLDEVAFIQNLVFYIEAAYKVADYGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHGGRK
  SVIHVLPDEVEHCQSILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDG
  YKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILIRGKNGIRLVPELYAV
  PPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAAGEIDPLNRRFSTSVKPDVVVQVTVLAENNH
  IKDLLRKHGVNVQSIADIHPIQVQPGRILSHIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFT
  DQHHFYLALDNEMIVEMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVK
  LGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGTFSPDSDSDLVGYLEDTCNQESQDELDHYINHLLQSTSLRS
  YLPPLCKNTEDRHVFSAIHSTRDILSVMAKAKGLEVPFVPMTLPTKVLSAHRKSLNLVDSPQPLLEKVPESDFQW
  PRDDHGDVDCEKLVEQLKDCSNLQDQADILYILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRY
  ISGLLRKKVEVLAEACTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAM
  YVRAQPSLFVEMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILSGKEFGVERSVRPIHS
  STSSPTISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQFFSVGQAASSSAHSSKSARSSTPSSPTGTSS
  SDSGGHHIGWGERQGQWLRRRRLDGAINRVPVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKFAVHVE
  SVLNRVPQPEYRQLLVEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEKDQATGICHFF
  YDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ

• Structural information:
  • Interpro: IPR008928  IPR012341  IPR011613  IPR008734  
  • STRING: ENSP00000369274
• Other Databases: GeneCards:  PHKA2  Malacards:  PHKA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005964	phosphorylase kinase complex	IBA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004689	phosphorylase kinase activity	TAS	molecular function
GO:0005964	phosphorylase kinase complex	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0006464	cellular protein modification process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005964	phosphorylase kinase complex	IBA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004689	phosphorylase kinase activity	TAS	molecular function
GO:0005964	phosphorylase kinase complex	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0006464	cellular protein modification process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process

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:7711737
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray