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

Gene ID: 5224, updated on 5-Apr-2015
Official Symbol
PGAM2provided by HGNC
Official Full Name
phosphoglycerate mutase 2 (muscle)provided by HGNC
Primary source
HGNC: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]
Orthologs
See PGAM2 in MapViewer
Location:
7p13-p12
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (44062727..44065972, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44102326..44105186, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAS p21 protein activator 4C, pseudogene Neighboring gene long intergenic non-protein coding RNA 957 Neighboring gene drebrin-like Neighboring gene microRNA 6837 Neighboring gene uncharacterized LOC105375256 Neighboring gene microRNA 6838 Neighboring gene polymerase (DNA directed), mu Neighboring gene uncharacterized LOC102724964

Products Interactant Other Gene Complex Source Pubs Description

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
canonical glycolysis TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
phosphoglycerate mutase 2
Names
phosphoglycerate mutase 2
BPG-dependent PGAM 2
muscle-specific phosphoglycerate mutase
phosphoglycerate mutase isozyme M
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

    See identical proteins and their annotated locations for NP_000281.2

    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:5228
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    44062727..44065972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515426.1XP_011513728.1  

    Conserved Domains (1) summary
    cd07067
    Location:589
    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

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    44106200..44109060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)