• Gene id: 5224

Gene Summary

• Gene Symbol: PGAM2   Gene   UCSC   Ensembl
• Aliases: GSD10, PGAM-M, PGAMM
• Gene name: phosphoglycerate mutase 2
• Alternate names: phosphoglycerate mutase 2, BPG-dependent PGAM 2, muscle-specific phosphoglycerate mutase, phosphoglycerate mutase 2 (muscle), phosphoglycerate mutase isozyme M,
• Gene location: 7p13 (44065566: 44062726)     Exons: 3     NC_000007.14
• Gene summary(Entrez): Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migratin
• OMIM: 612931

Protein Summary

• Protein general information: P15259  
  • Name: Phosphoglycerate mutase 2 (EC 5.4.2.11) (EC 5.4.2.4) (BPG dependent PGAM 2) (Muscle specific phosphoglycerate mutase) (Phosphoglycerate mutase isozyme M) (PGAM M)
  • Length: 253  
  • Mass: 28766
  • Tissue specificity: Expressed in the heart and muscle. Not found in the liver and brain. {ECO
• Sequence:

  MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTD
  QMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGEL
  PTCESLKDTIARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELK
  PTKPMQFLGDEETVRKAMEAVAAQGKAK

• Structural information:
  • Interpro: IPR013078  IPR029033  IPR001345  IPR005952  
  • Prosite: PS00175
  • CDD: cd07067
  • STRING: ENSP00000297283
• Other Databases: GeneCards:  PGAM2  Malacards:  PGAM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	IEA	molecular function
GO:0004619	phosphoglycerate mutase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016868	intramolecular transferase activity, phosphotransferases	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0004082	bisphosphoglycerate mutase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0042802	identical 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:0007219	Notch signaling pathway	IEA	biological process
GO:0046689	response to mercury ion	IEA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0006094	gluconeogenesis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0004619	phosphoglycerate mutase activity	IEA	molecular function
GO:0010035	response to inorganic substance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004619	phosphoglycerate mutase activity	IEA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0006941	striated muscle contraction	IMP	biological process
GO:0006096	glycolytic process	IMP	biological process
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04922	Glucagon signaling pathway
hsa01230	Biosynthesis of amino acids
hsa00010	Glycolysis / Gluconeogenesis
hsa05230	Central carbon metabolism in cancer
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type X	KEGG:H01951
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type X	KEGG:H01951
Myoglobinuria	PMID:8447317
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray