PGAM2 (phosphoglycerate mutase 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5224
Gene name Phosphoglycerate mutase 2
Gene symbol PGAM2
Synonyms (NCBI Gene)
GSD10PGAM-MPGAMM
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612931 8889 ENSG00000164708
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Glycine, serine and threonine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Glucagon signaling pathway
Central carbon metabolism in cancer 		  Glycolysis
Gluconeogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
160
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glycogen storage disease type X Pathogenic; Likely pathogenic rs764676548, rs10250779, rs540266988, rs2484210705, rs2484210332, rs2484210663, rs764567774, rs747947171 RCV001386188
RCV000000446
RCV003060094
RCV002871913
RCV002933216
RCV003598360
RCV002526017
RCV000714736
PGAM2-related disorder Likely pathogenic; Pathogenic rs10250779 RCV003944788
Rhabdomyolysis Likely pathogenic rs750422335 RCV000662286
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance rs1336837510 RCV004557885
Familial pancreatic carcinoma Conflicting classifications of pathogenicity rs201133395 RCV005899941
Nonpapillary renal cell carcinoma Likely benign rs369660945 RCV005913524
Uterine corpus endometrial carcinoma Conflicting classifications of pathogenicity rs201133395 RCV005899942
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 34321420
Dimauro disease Associate 23169535, 8447317
Glycogen Storage Disease Associate 22899091, 33782433
Metabolic Diseases Associate 28779239
Neoplasms Associate 34321420