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    PGAM2 phosphoglycerate mutase 2 [ Homo sapiens (human) ]

    Gene ID: 5224, updated on 5-Mar-2024

    Summary

    Official Symbol
    PGAM2provided by HGNC
    Official Full Name
    phosphoglycerate mutase 2provided by HGNC
    Primary source
    HGNC:HGNC:8889
    See related
    Ensembl:ENSG00000164708 MIM:612931; AllianceGenome:HGNC:8889
    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]
    Expression
    Biased expression in heart (RPKM 250.4), testis (RPKM 58.7) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PGAM2 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (44062727..44065567, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44221224..44224064, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44102326..44105166, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAS p21 protein activator 4C, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18138 Neighboring gene long intergenic non-protein coding RNA 957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:44084499-44084999 Neighboring gene drebrin like Neighboring gene microRNA 6837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44099073-44099648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44099649-44100225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25929 Neighboring gene microRNA 6838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44119156-44120063 Neighboring gene DNA polymerase mu Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:44121903-44122403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140397-44140898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140899-44141398 Neighboring gene AE binding protein 1 Neighboring gene microRNA 4649

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC88743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables bisphosphoglycerate mutase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphoglycerate mutase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables phosphoglycerate mutase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical glycolysis TAS
    Traceable Author Statement
    more info
     
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to mercury ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in striated muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphoglycerate mutase 2
    Names
    BPG-dependent PGAM 2
    muscle-specific phosphoglycerate mutase
    phosphoglycerate mutase 2 (muscle)
    phosphoglycerate mutase isozyme M
    NP_000281.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5021..7861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000290.4NP_000281.2  phosphoglycerate mutase 2

      See identical proteins and their annotated locations for NP_000281.2

      Status: REVIEWED

      Source sequence(s)
      BC001904
      Consensus CDS
      CCDS34624.1
      UniProtKB/Swiss-Prot
      P15259
      Related
      ENSP00000297283.3, ENST00000297283.4
      Conserved Domains (1) summary
      TIGR01258
      Location:4251
      pgm_1; phosphoglycerate mutase, BPG-dependent, family 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      44062727..44065567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44221224..44224064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)