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PGAM2 phosphoglycerate mutase 2 [ Homo sapiens (human) ]

Gene ID: 5224, updated on 7-Jul-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
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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)

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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)