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Aliases for PGAM2 Gene

Aliases for PGAM2 Gene

  • Phosphoglycerate Mutase 2 2 3 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 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 Central carbon metabolism in cancer and Metabolism. Gene Ontology (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.

Additional gene information for PGAM2 Gene

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

GeneHancer (GH) Regulatory Elements for PGAM2 Gene

Promoters and enhancers for PGAM2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J044064 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 650.7 +0.3 329 1.6 ZNF282 PKNOX1 USF1 POLR2A RBM22 STAT5A RBPJ PGAM2 ENSG00000239775 POLM LINC00957 DBNL
GH07J044063 Enhancer 0.6 Ensembl ENCODE 650.7 +1.9 1917 1.1 POLR2A SIN3A REST ENSG00000239775 PGAM2 RASA4CP POLM AEBP1 PIR32362 DBNL
GH07J044086 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12 -22.3 -22342 3.4 BCOR ZNF146 SAP130 ERF E4F1 ZNF205 YY1 POLR2A IKZF5 FOS POLM RASA4CP UBE2D4 ENSG00000241057 ENSG00000239775 PGAM2 POLD2 AEBP1 YKT6
GH07J044159 Promoter/Enhancer 1 EPDnew dbSUPER 11 -93.3 -93330 0.1 SP1 RXRA MAX HNF4A RAD21 GCK POLD2 RNA5SP230 AEBP1 POLM ENSG00000239775 PGAM2 LOC105375258 LOC105375257
GH07J044163 Enhancer 0.7 ENCODE 11.5 -97.6 -97551 1.9 FOXA2 MAX RAD21 YY1 EGR1 HNF4G ZNF687 RXRA REST MNT MYL7 POLD2 RNA5SP230 AEBP1 ENSG00000239775 PGAM2 POLM URGCP LOC105375257 LOC105375258
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGAM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGAM2 gene promoter:
  • E2F
  • FAC1
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Pax-5
  • NF-kappaB1
  • NF-kappaB

Genomic Locations for PGAM2 Gene

Genomic Locations for PGAM2 Gene
3,246 bases
Minus strand
2,861 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

Post-translational modifications for PGAM2 Gene

  • Ubiquitination at Lys195 and Lys179
  • Modification sites at PhosphoSitePlus

Other Protein References for PGAM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PGAM2 Gene

Domains & Families for PGAM2 Gene

Gene Families for PGAM2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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.
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.
GENATLAS Biochemistry:
phosphoglycerate mutase 2,muscle,glycolysis,energy pathway

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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA,IEA 21630459
GO:0005829 cytosol TAS,IEA --
GO:0070062 extracellular exosome HDA 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,IEA --
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
  • 2,3-bisphospho-D-Glycerate
  • 2,3-Bisphosphoglyceric acid
  • 2,3-BPG
  • 2,3-disphospho-D-Glycerate
  • D-Greenwald ester
2-Phosphoglyceric acid
  • 3-Hydroxy-2-(phosphonooxy)propanoic acid
  • 3-Hydroxy-2-(phosphonooxy)propanoate
  • 2-Phosphoglycerate
  • 2-(Dihydrogen phosphate)glycerate
  • 2-(Dihydrogen phosphate)glyceric acid
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:

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 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

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 33
  • 99.87 (n)
(Canis familiaris)
Mammalia PGAM2 34 33
  • 91.17 (n)
(Monodelphis domestica)
Mammalia PGAM2 34
  • 91 (a)
(Bos Taurus)
Mammalia PGAM2 34 33
  • 88.67 (n)
(Rattus norvegicus)
Mammalia Pgam2 33
  • 87.48 (n)
(Mus musculus)
Mammalia Pgam2 16 34 33
  • 86.3 (n)
(Ornithorhynchus anatinus)
Mammalia PGAM2 34
  • 74 (a)
(Anolis carolinensis)
Reptilia PGAM2 34
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pgam2 33
  • 76 (n)
(Danio rerio)
Actinopterygii pgam2 34 33
  • 76.46 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8690 33
fruit fly
(Drosophila melanogaster)
Insecta Pglym87 34 35 33
  • 69.47 (n)
Pglym78 34 35
  • 67 (a)
CG7059 35
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR056W 33
  • 53.28 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11859g 33
  • 53.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 36 34 33
  • 50.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4977 34
  • 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)
Evolutionary constrained regions (ECRs) for PGAM2: view image

Paralogs for PGAM2 Gene

Paralogs for PGAM2 Gene

(3) SIMAP similar genes for PGAM2 Gene using alignment to 2 proteins:

  • A4D2J6_HUMAN
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 Variation AA Info Type
rs10250779 pathogenic, Glycogen storage disease type X, not provided 44,065,297(-) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs104894030 pathogenic, Glycogen storage disease type X, Glycogen storage disease 10 (GSD10) [MIM:261670] 44,065,264(-) T/G coding_sequence_variant, missense_variant
rs104894034 pathogenic, uncertain-significance, Glycogen storage disease type X, not specified, Glycogen storage disease 10 (GSD10) [MIM:261670] 44,065,262(-) G/A coding_sequence_variant, missense_variant
rs111656877 benign, likely-benign, not specified, Glycogen storage disease type X 44,065,314(-) G/A coding_sequence_variant, synonymous_variant
rs112828964 likely-benign, benign, Glycogen storage disease type X, not specified 44,065,206(-) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for PGAM2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PGAM2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PGAM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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

Additional Disease Information for PGAM2

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 GM … DiMauro S (Neuromuscular disorders : NMD 1999) 3 4 22 58
  2. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PMID: 8447317) Tsujino S … DiMauro S (American journal of human genetics 1993) 3 4 22 58
  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 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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 (Human genetics 1990) 3 22 58

Products for PGAM2 Gene

Sources for PGAM2 Gene

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