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Bpgm 2,3-bisphosphoglycerate mutase [ Mus musculus (house mouse) ]

Gene ID: 12183, updated on 2-Nov-2024

Summary

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Official Symbol
Bpgmprovided by MGI
Official Full Name
2,3-bisphosphoglycerate mutaseprovided by MGI
Primary source
MGI:MGI:1098242
See related
Ensembl:ENSMUSG00000038871 AllianceGenome:MGI:1098242
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables bisphosphoglycerate mutase activity. Involved in glycolytic process. Acts upstream of or within several processes, including defense response to protozoan; erythrocyte development; and oxygen transport. Is expressed in several structures, including alimentary system; cerebral cortex; liver; oocyte; and respiratory system. Human ortholog(s) of this gene implicated in familial erythrocytosis 8. Orthologous to human BPGM (bisphosphoglycerate mutase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in liver E14 (RPKM 75.5), liver E14.5 (RPKM 74.5) and 24 other tissues See more
Orthologs
human all
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Genomic context

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See Bpgm in Genome Data Viewer
Location:
6 B1; 6 15.01 cM
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (34453291..34482071)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (34476356..34505136)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1, member B7 Neighboring gene aldo-keto reductase family 1, member B7 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr6:34426033-34426334 Neighboring gene predicted gene, 52898 Neighboring gene predicted gene, 32942

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia. Xu G, et al. Cell Rep, 2020 Sep 22. PMID 32966787
  2. Molecular cloning and nucleotide sequence of murine 2,3-bisphosphoglycerate mutase cDNA. Le Boulch P, et al. Biochem Biophys Res Commun, 1988 Oct 31. PMID 2847721
  3. Placental expression of 2,3 bisphosphoglycerate mutase in IGF-II knock out mouse: correlation of circulating maternal 2,3 bisphosphoglycerate and fetal growth. Gu M, et al. Placenta, 2009 Oct. PMID 19733906
  4. Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes. Lim M, et al. J Assist Reprod Genet, 2021 Jun. PMID 34052998, Free PMC Article
  5. Effects of 2,3-DPG knockout on SCD phenotype in Townes SCD model mice. Barakat A, et al. Am J Hematol, 2023 Dec. PMID 37688507

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effects of 2,3-DPG knockout on SCD phenotype in Townes SCD model mice.
    Title: Effects of 2,3-DPG knockout on SCD phenotype in Townes SCD model mice.
  2. Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.
    Title: Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.
  3. Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia.
    Title: Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia.
  4. Placental expression of BPGM can influence maternal 2,3-bisphosphoglycerate (BPG) blood levels and supports a hypothesis under which BPG synthesized in the placenta may act on maternal haemoglobin to enhance delivery of oxygen to the developing fetus.
    Title: Placental expression of 2,3 bisphosphoglycerate mutase in IGF-II knock out mouse: correlation of circulating maternal 2,3 bisphosphoglycerate and fetal growth.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (2) 
  • Targeted (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
  
enables bisphosphoglycerate mutase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within defense response to protozoan IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within erythrocyte development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in erythrocyte development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within establishment of blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycolytic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuroinflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within nucleoside phosphate metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within oxygen transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
bisphosphoglycerate mutase
Names
2,3-bisphosphoglycerate mutase, erythrocyte
2,3-bisphosphoglycerate synthase
BPG-dependent PGAM
NP_001350637.1
NP_001350638.1
NP_001350639.1
NP_031589.1

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.

mRNA and Protein(s)

  1. NM_001363708.1 → NP_001350637.1  bisphosphoglycerate mutase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC115767
    Conserved Domains (1) summary
    cl11399
    Location:4 → 116
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  2. NM_001363709.1 → NP_001350638.1  bisphosphoglycerate mutase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC115767
    Conserved Domains (1) summary
    cl11399
    Location:1 → 153
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  3. NM_001363710.1 → NP_001350639.1  bisphosphoglycerate mutase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC115767
    Conserved Domains (1) summary
    cl11399
    Location:1 → 153
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  4. NM_007563.5 → NP_031589.1  bisphosphoglycerate mutase isoform 1

    See identical proteins and their annotated locations for NP_031589.1

    Status: VALIDATED

    Source sequence(s)
    AC115767
    Consensus CDS
    CCDS19994.1
    UniProtKB/Swiss-Prot
    P15327, Q543Z6
    UniProtKB/TrEMBL
    Q3TAQ8
    Related
    ENSMUSP00000047393.6, ENSMUST00000045372.6
    Conserved Domains (1) summary
    cl11399
    Location:4 → 255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RNA

  1. NR_156731.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC115767

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    34453291..34482071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15327.2 GenPept UniProtKB/Swiss-Prot:P15327

Gene LinkOut

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