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

Gene ID: 5224, updated on 19-Apr-2014
Official Symbol
PGAM2provided by HGNC
Official Full Name
phosphoglycerate mutase 2 (muscle)provided by HGNC
Primary source
HGNC:8889
See related
Ensembl:ENSG00000164708; HPRD:02027; MIM:612931; Vega:OTTHUMG00000155355
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSD10; PGAMM; PGAM-M
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]
Location :
7p13-p12
Sequence :
Chromosome: 7; NC_000007.14 (44062727..44065587, complement)
See PGAM2 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAS p21 protein activator 4C, pseudogene Neighboring gene long intergenic non-protein coding RNA 957 Neighboring gene drebrin-like Neighboring gene microRNA 6837 Neighboring gene microRNA 6838 Neighboring gene polymerase (DNA directed), mu Neighboring gene uncharacterized LOC102724964 Neighboring gene AE binding protein 1 Neighboring gene microRNA 4649

  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
    Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
    Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycolysis, organism-specific biosystem (from REACTOME)
    Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystem
    Glycolysis and Gluconeogenesis
  • Glycolysis, core module involving three-carbon compounds, organism-specific biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis, core module involving three-carbon compounds, conserved biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Rapoport-Luebering glycolytic shunt, organism-specific biosystem (from BIOCYC)
    Rapoport-Luebering glycolytic shunt, organism-specific biosystemThe Rapoport-Luebering glycolytic shunt, which has been documented in : TAX-5782, birds and mammals, generates and dephosphorylates : 23-DIPHOSPHOGLYCERATE (2,3-BPG) . The enzyme that generates 2,3-...
  • Rapoport-Luebering glycolytic shunt, conserved biosystem (from BIOCYC)
    Rapoport-Luebering glycolytic shunt, conserved biosystemThe Rapoport-Luebering glycolytic shunt, which has been documented in |FRAME: TAX-5782|, birds and mammals, generates and dephosphorylates |FRAME: 23-DIPHOSPHOGLYCERATE| (2,3-BPG) |CITS: [12124254][1...
  • conversion of glucose to acetyl CoA and entry into the TCA cycle, organism-specific biosystem (from BIOCYC)
    conversion of glucose to acetyl CoA and entry into the TCA cycle, organism-specific biosystem
    conversion of glucose to acetyl CoA and entry into the TCA cycle
  • gluconeogenesis, organism-specific biosystem (from BIOCYC)
    gluconeogenesis, organism-specific biosystemGeneral Background Blood glucose levels in mammals are maintained during fasting by utilization of liver glycogen stores. When this reserve is depleted, glucose must be generated from non-sugar carb...
  • gluconeogenesis III, conserved biosystem (from BIOCYC)
    gluconeogenesis III, conserved biosystemGeneral Background Blood glucose levels in mammals are maintained during fasting by utilization of liver glycogen stores. When this reserve is depleted, glucose must be generated from non-sugar carb...
  • glycolysis, organism-specific biosystem (from BIOCYC)
    glycolysis, organism-specific biosystemGeneral Background Glycolysis is one of the oldest metabolic pathways which occurs within the cell cytosol in nearly all organisms. The free energy released by the conversion of glucose to pyruvate ...
  • glycolysis VI (metazoan), conserved biosystem (from BIOCYC)
    glycolysis VI (metazoan), conserved biosystemGeneral Background Glycolysis is one of the oldest metabolic pathways which occurs within the cell cytosol in nearly all organisms. The free energy released by the conversion of glucose to pyruvate ...
  • homolactic fermentation, conserved biosystem (from BIOCYC)
    homolactic fermentation, conserved biosystemGeneral Background Lactic acid fermentation is a process by which sugars such as glucose, fructose, and sucrose are converted into cellular energy and the metabolic byproduct lactate. It occurs in m...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
 
bisphosphoglycerate 2-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
bisphosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
 
cofactor binding IEA
Inferred from Electronic Annotation
more info
 
phosphoglycerate mutase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycolytic process TAS
Traceable Author Statement
more info
 
response to mercury ion IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
phosphoglycerate mutase 2
Names
phosphoglycerate mutase 2
BPG-dependent PGAM 2
phosphoglycerate mutase isozyme M
muscle-specific phosphoglycerate mutase
NP_000281.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013016.1 RefSeqGene

    Range
    5001..7861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000290.3NP_000281.2  phosphoglycerate mutase 2

    See proteins identical to NP_000281.2

    Status: REVIEWED

    Source sequence(s)
    BC001904, CT002473
    Consensus CDS
    CCDS34624.1
    UniProtKB/Swiss-Prot
    P15259
    Related
    ENSP00000297283, OTTHUMP00000207787, ENST00000297283, OTTHUMT00000339614
    Conserved Domains (1) summary
    cd07067
    Location:5228
    Blast Score: 390
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38 Primary Assembly

    Range
    44062727..44065587, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    43987609..43990469, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    44106200..44109060, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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