PGAM2 (phosphoglycerate mutase 2)

Gene

• Entrez ID: 5224
• Gene name: Phosphoglycerate mutase 2
• Gene symbol: PGAM2
• Synonyms (NCBI Gene): GSD10, PGAM-M, PGAMM
• Chromosome: 7
• Chromosome location: 7p13
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004082	Function	Bisphosphoglycerate mutase activity	IEA
GO:0004619	Function	Phosphoglycerate mutase activity	EXP	4827367
GO:0004619	Function	Phosphoglycerate mutase activity	IBA
GO:0004619	Function	Phosphoglycerate mutase activity	IEA
GO:0004619	Function	Phosphoglycerate mutase activity	IMP	6262916
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	IMP	6262916
GO:0006941	Process	Striated muscle contraction	IMP	6262916
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016868	Function	Intramolecular phosphotransferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046689	Process	Response to mercury ion	IEA
GO:0061621	Process	Canonical glycolysis	IBA
GO:0061621	Process	Canonical glycolysis	IEA
GO:0061621	Process	Canonical glycolysis	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 612931
• HGNC: 8889
• e!Ensembl: ENSG00000164708

Protein

• UniProt ID: P15259
• Protein 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)
• Protein function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00300	His_Phos_1	6 → 134	Histidine phosphatase superfamily (branch 1)	Domain
  PF00300	His_Phos_1	126 → 223	Histidine phosphatase superfamily (branch 1)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart and muscle. Not found in the liver and brain. {ECO:0000269|PubMed:2822696}.
• Sequence:

  MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVL
  KRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFD
  IPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKR
  VLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR
  KAMEAVAAQGKAK

• Sequence length: 253

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Glycine, serine and threonine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Glucagon signaling pathway
Central carbon metabolism in cancer

Reactome:

Glycolysis
Gluconeogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Glycogen storage disease type X	Pathogenic; Likely pathogenic	rs764676548, rs10250779, rs540266988, rs2484210705, rs2484210332, rs2484210663, rs764567774, rs747947171	RCV001386188 RCV000000446 RCV003060094 RCV002871913 RCV002933216 RCV003598360 RCV002526017 RCV000714736	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PGAM2-related disorder	Likely pathogenic; Pathogenic	rs10250779	RCV003944788	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyolysis	Likely pathogenic	rs750422335	RCV000662286	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DIMAURO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE X	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	1981052		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34321420	Associate	★☆☆☆☆ Found in Text Mining only
Dimauro disease	Dimauro disease	Pubtator	23169535, 8447317	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29312627		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10545043		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	22899091, 33782433	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to phosphoglycerate mutase deficiency	Glycogen Storage Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type X	Glycogen Storage Disease	BEFREE	10545043, 19273759, 19783439		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease type X	Glycogen Storage Disease	UNIPROT_DG	10545043, 8447317		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease type X	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	19273759, 28779239		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease type X	Glycogen Storage Disease	CLINVAR_DG	27612597, 8447317		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease type X	Glycogen Storage Disease	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease type X	Glycogen Storage Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	BEFREE	1981052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29312627		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28779239	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30397902		★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	10545043		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	16829355		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24786789		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only