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PGAM2 phosphoglycerate mutase 2 [ Homo sapiens (human) ]

Gene ID: 5224, updated on 4-Oct-2020

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
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

Genomic context

See PGAM2 in Genome Data Viewer
Location:
7p13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (44062727..44065567, 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 microRNA 6838 Neighboring gene DNA polymerase mu 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 mutase activity IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphoglycerate mutase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
canonical glycolysis TAS
Traceable Author Statement
more info
 
gluconeogenesis 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
 
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 HDA PubMed 
nucleus HDA 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)

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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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