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

    Gene ID: 5224, updated on 22-May-2013
    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_000007.13 (44102326..44105186, complement)
    See PGAM2 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene RAS p21 protein activator 4C, pseudogene Neighboring gene uncharacterized LOC255031 Neighboring gene drebrin-like Neighboring gene polymerase (DNA directed), mu Neighboring gene AE binding protein 1 Neighboring gene microRNA 4649

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:111245 BioGRID:117036 BRD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111245 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111245 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111245 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111245 BioGRID:115283 USP15    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Homology

    Clone Names

    • MGC88743

    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
     
    glycolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycolysis 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
    cellular_component ND
    No biological Data available
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    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

      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:589
      Blast Score: 286
      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 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      44102326..44105186, 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 CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      44141816..44144674, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      44077600..44080460, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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