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Aliases for PGAM2 Gene

Aliases for PGAM2 Gene

  • Phosphoglycerate Mutase 2 (Muscle) 2 3
  • PGAMM 3 4 6
  • Muscle-Specific Phosphoglycerate Mutase 3 4
  • Phosphoglycerate Mutase Isozyme M 3 4
  • BPG-Dependent PGAM 2 3 4
  • PGAM-M 3 4
  • GSD10 3 6
  • Phosphoglycerate Mutase 2 3
  • EC 4
  • EC 4
  • EC 64
  • EC 4

External Ids for PGAM2 Gene

Summaries for PGAM2 Gene

Entrez Gene Summary for PGAM2 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-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]

GeneCards Summary for PGAM2 Gene

PGAM2 (Phosphoglycerate Mutase 2 (Muscle)) is a Protein Coding gene. Diseases associated with PGAM2 include glycogen storage disease x and phosphoglycerate mutase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include cofactor binding and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM1.

UniProtKB/Swiss-Prot for PGAM2 Gene

  • Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC (synthase) and EC (phosphatase), but with a reduced activity

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAM2 Gene

Genomics for PGAM2 Gene

Genomic Location for PGAM2 Gene

44,062,727 bp from pter
44,065,587 bp from pter
2,861 bases
Minus strand

Genomic View for PGAM2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PGAM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGAM2 Gene

Regulatory Elements for PGAM2 Gene

Proteins for PGAM2 Gene

  • Protein details for PGAM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoglycerate mutase 2
    Protein Accession:
    Secondary Accessions:

    Protein attributes for PGAM2 Gene

    253 amino acids
    Molecular mass:
    28766 Da
    Quaternary structure:
    • Homodimer

neXtProt entry for PGAM2 Gene

Proteomics data for PGAM2 Gene at MOPED

Selected DME Specific Peptides for PGAM2 Gene

Post-translational modifications for PGAM2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys100, Lys179, Lys195, and Lys241

Other Protein References for PGAM2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PGAM2 Gene


  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.:
    • P15259
genes like me logo Genes that share domains with PGAM2: view

No data available for Gene Families for PGAM2 Gene

Function for PGAM2 Gene

Molecular function for PGAM2 Gene

GENATLAS Biochemistry: phosphoglycerate mutase 2,muscle,glycolysis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity: 2-phospho-D-glycerate = 3-phospho-D-glycerate
UniProtKB/Swiss-Prot CatalyticActivity: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
UniProtKB/Swiss-Prot CatalyticActivity: 2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate
UniProtKB/Swiss-Prot Function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC (synthase) and EC (phosphatase), but with a reduced activity

Enzyme Numbers (IUBMB) for PGAM2 Gene

Gene Ontology (GO) - Molecular Function for PGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004083 bisphosphoglycerate 2-phosphatase activity IEA --
GO:0004619 phosphoglycerate mutase activity IMP 6262916
GO:0005515 protein binding --
GO:0016868 intramolecular transferase activity, phosphotransferases --
genes like me logo Genes that share ontologies with PGAM2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PGAM2 Gene

Localization for PGAM2 Gene

Subcellular locations from

Jensen Localization Image for PGAM2 Gene COMPARTMENTS Subcellular localization image for PGAM2 gene
Compartment Confidence
cytosol 4
nucleus 2
chloroplast 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with PGAM2: view

Pathways for PGAM2 Gene

genes like me logo Genes that share pathways with PGAM2: view

Gene Ontology (GO) - Biological Process for PGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IMP 6262916
GO:0006941 striated muscle contraction IMP 6262916
genes like me logo Genes that share ontologies with PGAM2: view

Compounds for PGAM2 Gene

(3) HMDB Compounds for PGAM2 Gene

Compound Synonyms Cas Number PubMed IDs
2,3-Diphosphoglyceric acid
  • (2R)-2,3-bis(phosphonooxy)-Propanoic acid
2-Phospho-D-glyceric acid
  • 2-Phospho-D-glycerate
Not Available
2-Phosphoglyceric acid
  • 2-(dihydrogen phosphate)Glycerate

(2) Drugbank Compounds for PGAM2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-Phosphoglyceric Acid
Benzene Hexacarboxylic Acid
517-60-2 target

(1) Novoseek inferred chemical compound relationships for PGAM2 Gene

Compound -log(P) Hits PubMed IDs
glycogen 44.7 2
genes like me logo Genes that share compounds with PGAM2: view

Transcripts for PGAM2 Gene

mRNA/cDNA for PGAM2 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(62) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PGAM2 Gene

Phosphoglycerate mutase 2 (muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PGAM2 Gene

No ASD Table

Relevant External Links for PGAM2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PGAM2 Gene

mRNA expression in normal human tissues for PGAM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PGAM2 Gene

SOURCE GeneReport for Unigene cluster for PGAM2 Gene Hs.632642

mRNA Expression by UniProt/SwissProt for PGAM2 Gene

Tissue specificity: In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues
genes like me logo Genes that share expressions with PGAM2: view

Orthologs for PGAM2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PGAM2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PGAM2 36
  • 99.87 (n)
  • 100 (a)
PGAM2 37
  • 100 (a)
(Bos Taurus)
Mammalia PGAM2 36
  • 88.67 (n)
  • 94.47 (a)
PGAM2 37
  • 95 (a)
(Canis familiaris)
Mammalia PGAM2 36
  • 91.17 (n)
  • 95.26 (a)
PGAM2 37
  • 95 (a)
(Mus musculus)
Mammalia Pgam2 36
  • 86.3 (n)
  • 92.09 (a)
Pgam2 16
Pgam2 37
  • 92 (a)
(Monodelphis domestica)
Mammalia PGAM2 37
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia PGAM2 37
  • 74 (a)
(Rattus norvegicus)
Mammalia Pgam2 36
  • 87.48 (n)
  • 93.68 (a)
(Anolis carolinensis)
Reptilia PGAM2 37
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pgam2 36
  • 76 (n)
  • 85.2 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8690 36
(Danio rerio)
Actinopterygii pgam2 36
  • 76.46 (n)
  • 86.51 (a)
pgam2 37
  • 85 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pglym78 37
  • 67 (a)
Pglym87 36
  • 69.47 (n)
  • 68.8 (a)
Pglym87 37
  • 59 (a)
CG7059 38
  • 42 (a)
Pglym78 38
  • 67 (a)
Pglym87 38
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR056W 36
  • 53.28 (n)
  • 51.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 36
  • 50.82 (n)
  • 52.87 (a)
GPM1 37
  • 52 (a)
GPM1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11859g 36
  • 53.01 (n)
  • 52.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4977 37
  • 64 (a)
Species with no ortholog for PGAM2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PGAM2 Gene

Gene Tree for PGAM2 (if available)
Gene Tree for PGAM2 (if available)

Paralogs for PGAM2 Gene

Paralogs for PGAM2 Gene

Selected SIMAP similar genes for PGAM2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PGAM2: view

Variants for PGAM2 Gene

Sequence variations from dbSNP and Humsavar for PGAM2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1129638 -- 44,065,271(-) GGCGC(C/T)TCAAT reference, missense
rs1129639 -- 44,065,238(-) CAGGC(C/T)TCAAC reference, missense
rs1129670 -- 44,062,847(-) AGCCC(A/C)CCAAG reference, missense
rs6463215 -- 44,063,264(+) CTTTG(G/T)TTTTT intron-variant
rs6463216 -- 44,063,341(+) GTGCA(A/G)TGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PGAM2 Gene

Variant ID Type Subtype PubMed ID
nsv428165 CNV Gain 18775914
nsv830980 CNV Loss 17160897
nsv8082 CNV Gain 18304495
nsv887996 CNV Loss 21882294
nsv470210 CNV Loss 18288195

Relevant External Links for PGAM2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for PGAM2 Gene

(1) OMIM Diseases for PGAM2 Gene (612931)


  • Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. {ECO:0000269 PubMed:10545043, ECO:0000269 PubMed:8447317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PGAM2 Gene

(1) Novoseek inferred disease relationships for PGAM2 Gene

Disease -log(P) Hits PubMed IDs
myopathy 63.9 4

Genatlas disease for PGAM2 Gene

myopathy, exercise-related
genes like me logo Genes that share disorders with PGAM2: view

Publications for PGAM2 Gene

  1. Isolation and characterization of the gene encoding the muscle- specific isozyme of human phosphoglycerate mutase. (PMID: 2145198) Castella-Escola J. … Cohen-Solal M. (Gene 1990) 3 4 23
  2. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. (PMID: 10545043) Hadjigeorgiou G.M. … DiMauro S. (Neuromuscul. Disord. 1999) 3 4 23
  3. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PMID: 8447317) Tsujino S. … Dimauro S. (Am. J. Hum. Genet. 1993) 3 4 23
  4. Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. (PMID: 2549058) Tsujino S. … Schon E.A. (J. Biol. Chem. 1989) 3 4
  5. Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. (PMID: 2822696) Shanske S. … Schon E.A. (J. Biol. Chem. 1987) 3 4

Products for PGAM2 Gene

Sources for PGAM2 Gene

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