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PGAM2 phosphoglycerate mutase 2 (muscle) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000290 Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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Gene Symbol PGAM2
Entrez Gene ID 5224
Full Name phosphoglycerate mutase 2 (muscle)
Synonyms GSD10, PGAM-M, PGAMM
General protein information
Preferred Names
phosphoglycerate mutase 2
Names
phosphoglycerate mutase 2
BPG-dependent PGAM 2
phosphoglycerate mutase isozyme M
muscle-specific phosphoglycerate mutase
NP_000281.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7p13-p12

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-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009].
Disorder

MIM: 612931

Glycogen storage disease X, 261670 (3)

mRNA Protein Product Sequence Price Select
NM_000290, 259490363 NP_000281, 50593010 phosphoglycerate mutase 2 ORF Sequence $199.00
KEGG
hsa00010Glycolysis / Gluconeogenesis
hsa00260Glycine, serine and threonine metabolism
hsa_M00003Gluconeogenesis, oxaloacetate => fructose-6P
hsa_M00002Glycolysis, core module involving three-carbon compounds
hsa_M00001Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate
hsa01230Biosynthesis of amino acids
hsa01200Carbon metabolism
WikiPathways
WP534Glycolysis and Gluconeogenesis
BIOCYC
META_ANAEROFRUCAT-PWYhomolactic fermentation
HUMAN_GLUCONEO-PWYgluconeogenesis I
HUMAN_GLYCOLYSISglycolysis I
HUMAN_PWY-6405Rapoport-Luebering glycolytic shunt
META_PWY-6405Rapoport-Luebering glycolytic shunt
META_PWY66-400glycolysis VI (metazoan)
META_PWY66-399gluconeogenesis III
Reactome
REACT_1383Glycolysis
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_1520Gluconeogenesis
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PGAM2NP_000281.2
Pan troglodytes (chimpanzee)PGAM2XP_001143059.1
Macaca mulatta (Rhesus monkey)PGAM2XP_001116220.1
Canis lupus familiaris (dog)PGAM2XP_532718.2
Bos taurus (cattle)PGAM2NP_001033200.1
Mus musculus (house mouse)Pgam2NP_061358.1
Rattus norvegicus (Norway rat)Pgam2NP_059024.1
Danio rerio (zebrafish)pgam2NP_957318.1
Drosophila melanogaster (fruit fly)Pglym87NP_652041.2
Xenopus (Silurana) tropicalis (western clawed frog)pgam2NP_001005665.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0006006glucose metabolic processTAS
GO:0006094gluconeogenesisTAS
GO:0006096glycolytic processIMP
GO:0006096glycolytic processTAS
GO:0006941striated muscle contractionIMP
GO:0007283spermatogenesisIEA
GO:0016311dephosphorylationIEA
GO:0044281small molecule metabolic processTAS
GO:0046689response to mercury ionIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0004082bisphosphoglycerate mutase activityIEA
GO:0004083bisphosphoglycerate 2-phosphatase activityIEA
GO:0004619phosphoglycerate mutase activityIMP
GO:00465382,3-bisphosphoglycerate-dependent phosphoglycerate mutase activityIEA
GO:0048037cofactor bindingIEA
GeneCards PGAM2
UniProt P15259
Vega OTTHUMG00000155355
MIM 612931
Ensembl ENSG00000164708
HGNC 8889
HPRD 02027

What is the normal function of the PGAM2 gene?

The PGAM2 gene provides instructions for making an enzyme called phosphoglycerate mutase. The version of phosphoglycerate mutase produced from this gene is found predominantly in skeletal muscle cells. (Skeletal muscles are the muscles used for movement.) Another version of this enzyme, which is produced from a different gene, is found in many other cells and tissues.

Phosphoglycerate mutase is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Phosphoglycerate mutase helps carry out a chemical reaction that converts a molecule called 3-phosphoglycerate, which is produced during the breakdown of glucose, to another molecule called 2-phosphoglycerate.

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