PGAM2 (phosphoglycerate mutase 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5224
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoglycerate mutase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGAM2
Synonyms (NCBI Gene) Gene synonyms aliases
GSD10, PGAM-M, PGAMM
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p13
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612931 8889 ENSG00000164708
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glycogen Storage Disease glycogen storage disease type x rs747947171, rs10250779, rs764567774 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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