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Aliases for PGAM2 Gene

Aliases for PGAM2 Gene

  • Phosphoglycerate Mutase 2 2 3 5
  • Muscle-Specific Phosphoglycerate Mutase 3 4
  • Phosphoglycerate Mutase 2 (Muscle) 2 3
  • Phosphoglycerate Mutase Isozyme M 3 4
  • BPG-Dependent PGAM 2 3 4
  • PGAM-M 3 4
  • PGAMM 3 4
  • EC 4
  • EC 61
  • EC 4
  • GSD10 3

External Ids for PGAM2 Gene

Previous GeneCards Identifiers for PGAM2 Gene

  • GC07M043748
  • GC07M043809
  • GC07M043843
  • GC07M043875
  • GC07M044069
  • GC07M043987
  • GC07M044102

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) is a Protein Coding gene. Diseases associated with PGAM2 include Glycogen Storage Disease X and Phosphoglycerate Mutase Deficiency. Among its related pathways are Citrate cycle (TCA cycle) and Glucose metabolism. GO annotations related to this gene include cofactor binding and bisphosphoglycerate mutase 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), but with a reduced activity.

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

Genomics for PGAM2 Gene

Regulatory Elements for PGAM2 Gene

Enhancers for PGAM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G044086 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12 -22.3 -22343 3.4 BCOR CTCF ZNF146 SAP130 ZSCAN4 SIN3A YY1 ZNF664 ZNF791 POLR2A POLM RASA4CP UBE2D4 ENSG00000241057 ENSG00000239775 PGAM2 POLD2 AEBP1 YKT6
GH07G044091 1 dbSUPER 12 -26.8 -26820 2.3 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 SLC30A9 ZNF766 NFYC MXD4 POLM RASA4CP ENSG00000241057 UBE2D4 ENSG00000239775 PGAM2 POLD2 AEBP1
GH07G044156 0.8 dbSUPER 11 -92.0 -92010 3.7 TBP PKNOX1 ZSCAN4 THRB RAD21 YY1 EGR1 ZNF207 CREM EGR2 POLD2 RNA5SP230 AEBP1 POLM ENSG00000239775 PGAM2 GCK LOC105375258 LOC105375257
GH07G044163 0.7 ENCODE 11.5 -97.6 -97551 1.9 ZNF687 MAX MNT RAD21 NR2F2 GABPA YY1 FOXA1 JUND ATF3 MYL7 POLD2 RNA5SP230 AEBP1 ENSG00000239775 PGAM2 POLM URGCP LOC105375257 LOC105375258
GH07G044162 0.7 ENCODE 11 -96.4 -96445 0.2 HLF CEBPB MAX CEBPG RAD21 FOXA1 NR2F2 GABPA YY1 JUND MYL7 POLD2 RNA5SP230 AEBP1 POLM PGAM2 ENSG00000239775 LOC105375257 LOC105375258
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PGAM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PGAM2 Gene

44,062,727 bp from pter
44,065,972 bp from pter
3,246 bases
Minus strand

Genomic View for PGAM2 Gene

Genes around PGAM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGAM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGAM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGAM2 Gene

Proteins for PGAM2 Gene

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

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

    Protein attributes for PGAM2 Gene

    253 amino acids
    Molecular mass:
    28766 Da
    Quaternary structure:
    • Homodimer. Interacts with ENO1.

neXtProt entry for PGAM2 Gene

Selected DME Specific Peptides for PGAM2 Gene


Post-translational modifications for PGAM2 Gene

  • Ubiquitination at Lys179 and posLast=195195
  • Modification sites at PhosphoSitePlus

Other Protein References for PGAM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PGAM2 Gene

Gene Families for PGAM2 Gene

Suggested Antigen Peptide Sequences for PGAM2 Gene

Graphical View of Domain Structure for InterPro Entry



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

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 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), 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:0004619 phosphoglycerate mutase activity IMP 6262916
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
genes like me logo Genes that share ontologies with PGAM2: view
genes like me logo Genes that share phenotypes with PGAM2: view

Human Phenotype Ontology for PGAM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for PGAM2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGAM2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGAM2 Gene

Pathways & Interactions 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:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IMP 6262916
GO:0006941 striated muscle contraction IMP 6262916
GO:0007219 Notch signaling pathway IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with PGAM2: view

No data available for SIGNOR curated interactions for PGAM2 Gene

Drugs & Compounds for PGAM2 Gene

(5) Drugs for PGAM2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
3-Phosphoglyceric acid Experimental Pharma Target 0
Benzene Hexacarboxylic Acid Experimental Pharma Target 0
2-phospho-D-glyceric acid Experimental Pharma 0

(4) Additional Compounds for PGAM2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Diphosphoglyceric acid
  • (2R)-2,3-bis(phosphonooxy)-Propanoate
  • (2R)-2,3-bis(phosphonooxy)-Propanoic acid
  • (R)-2,3-bis(phosphonooxy)-Propanoate
  • (R)-2,3-bis(phosphonooxy)-Propanoic acid
  • 2,3-Bis(phosphonooxy)-Propanoate
2-Phosphoglyceric acid
  • 2-(Dihydrogen phosphate)Glycerate
  • 2-(Dihydrogen phosphate)Glyceric acid
  • 2-P-D-Glycerate
  • 2-P-D-Glyceric acid
  • 2-P-Glycerate
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
genes like me logo Genes that share compounds with PGAM2: view

Transcripts for PGAM2 Gene

mRNA/cDNA for PGAM2 Gene

(1) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PGAM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGAM2 Gene

This gene is overexpressed in Tonsil (34.3), Heart (8.2), and Oral epithelium (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PGAM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PGAM2 Gene:


SOURCE GeneReport for Unigene cluster for PGAM2 Gene:


mRNA Expression by UniProt/SwissProt for PGAM2 Gene:

Tissue specificity: Expressed in the heart and muscle. Not found in the liver and brain.

Evidence on tissue expression from TISSUES for PGAM2 Gene

  • Muscle(4.3)
  • Lung(4.2)
  • Heart(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PGAM2 Gene

Germ Layers:
  • mesoderm
  • skeletal muscle
  • urinary
  • kidney
  • ureter
  • urinary bladder
genes like me logo Genes that share expression patterns with PGAM2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PGAM2 Gene

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 34 35
  • 99.87 (n)
(Canis familiaris)
Mammalia PGAM2 34 35
  • 91.17 (n)
(Monodelphis domestica)
Mammalia PGAM2 35
  • 91 (a)
(Bos Taurus)
Mammalia PGAM2 34 35
  • 88.67 (n)
(Rattus norvegicus)
Mammalia Pgam2 34
  • 87.48 (n)
(Mus musculus)
Mammalia Pgam2 34 16 35
  • 86.3 (n)
(Ornithorhynchus anatinus)
Mammalia PGAM2 35
  • 74 (a)
(Anolis carolinensis)
Reptilia PGAM2 35
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pgam2 34
  • 76 (n)
(Danio rerio)
Actinopterygii pgam2 34 35
  • 76.46 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8690 34
fruit fly
(Drosophila melanogaster)
Insecta Pglym87 36 34 35
  • 69.47 (n)
Pglym78 36 35
  • 67 (a)
CG7059 36
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR056W 34
  • 53.28 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11859g 34
  • 53.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 34 35 37
  • 50.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4977 35
  • 64 (a)
Species where no ortholog for PGAM2 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs104894030 Pathogenic, Glycogen storage disease 10 (GSD10) [MIM:261670] 44,065,264(-) CAATG(A/C)GCGGC reference, missense
rs104894034 Pathogenic, Glycogen storage disease 10 (GSD10) [MIM:261670] 44,065,262(-) ATGAG(C/T)GGCAT reference, missense
rs77938727 Pathogenic, Glycogen storage disease 10 (GSD10) [MIM:261670] 44,065,240(+) TGAGG(C/T)CTGTG reference, missense
rs10250779 Pathogenic 44,065,297(-) GATGT(A/C/G)GCTGC reference, stop-gained
rs111656877 Likely benign 44,065,314(+) GTGCC(A/G)TCCAG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv428165 CNV gain 18775914
nsv470210 CNV loss 18288195
nsv8082 CNV gain 18304495
nsv830980 CNV loss 17160897

Variation tolerance for PGAM2 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.54; 64.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGAM2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAM2 Gene

Disorders for PGAM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PGAM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease x
  • phosphoglycerate mutase deficiency
phosphoglycerate mutase deficiency
  • glycogen storage disease x
greig cephalopolysyndactyly syndrome
  • polysyndactyly with peculiars skull shape
- elite association - COSMIC cancer census association via MalaCards
Search PGAM2 in MalaCards View complete list of genes associated with diseases


  • 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.

Genatlas disease for PGAM2 Gene

myopathy, exercise-related

Relevant External Links for PGAM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PGAM2: view

Publications for PGAM2 Gene

  1. 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 22 64
  2. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PMID: 8447317) Tsujino S. … Dimauro S. (Am. J. Hum. Genet. 1993) 3 4 22 64
  3. 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 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. (PMID: 2153628) Castella-Escola J. … Cohen-Solal M. (Hum. Genet. 1990) 3 22 64

Products for PGAM2 Gene

Sources for PGAM2 Gene

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