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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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