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BPGM Gene

protein-coding   GIFtS: 66
GCID: GC07P134331

2,3-Bisphosphoglycerate Mutase

  See BPGM-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
2,3-Bisphosphoglycerate Mutase1 2     Bisphosphoglycerate Mutase2
2,3-Bisphosphoglycerate Mutase, Erythrocyte2 3     Erythrocyte 2,3-Bisphosphoglycerate Mutase2
2,3-Bisphosphoglycerate Synthase2 3     EC 3.1.3.133
2,3-Diphosphoglycerate Mutase2 3     EC 5.4.2.113
DPGM2 3     EC 5.4.2.43
BPG-Dependent PGAM2 3     

External Ids:    HGNC: 10931   Entrez Gene: 6692   Ensembl: ENSG000001723317   OMIM: 6138965   UniProtKB: P077383   

Export aliases for BPGM gene to outside databases

Previous GC identifers: GC07P132674 GC07P133733 GC07P133747 GC07P133788 GC07P133982 GC07P128633


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BPGM Gene:
2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it
binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that
catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity.
The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of
cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants,
encoding the same protein, have been identified. (provided by RefSeq, Sep 2009)

GeneCards Summary for BPGM Gene:
BPGM (2,3-bisphosphoglycerate mutase) is a protein-coding gene. Diseases associated with BPGM include erythrocytosis due to bisphosphoglycerate mutase deficiency. GO annotations related to this gene include phosphoglycerate mutase activity and bisphosphoglycerate mutase activity. An important paralog of this gene is PGAM1.

UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
Function: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric
effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.1) and phosphatase (EC 3.1.3.13)
activities




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BPGM gene promoter:
         AML1a   NRSF form 1   HNF-3beta   NRSF form 2   C/EBPalpha   YY1   AREB6   GATA-6   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BPGM promoter sequence
   Search Chromatin IP Primers for BPGM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPGM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33

BPGM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPGM gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P134331:  view genomic region     (about GC identifiers)

Start:
134,331,531 bp from pter      End:
134,364,568 bp from pter
Size:
33,038 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 133,675,849-133,708,886     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738 (See protein sequence)
Recommended Name: Bisphosphoglycerate mutase  
Size: 259 amino acids; 30005 Da
Subunit: Homodimer
Selected PDB 3D structures from and Proteopedia for BPGM (see all 8):
1T8P (3D)        2A9J (3D)        2F90 (3D)        2H4X (3D)        2H4Z (3D)        2H52 (3D)    
Secondary accessions: A4D1N9

Explore the universe of human proteins at neXtProt for BPGM: NX_P07738

Explore proteomics data for BPGM at MOPED

Post-translational modifications: 

  • Glycation of Lys-159 in diabetic patients inactivates the enzyme1
  • Ubiquitination2 at Lys5
  • Glycosylation2 at Lys3, Lys5, Lys18, Lys43, Lys159, Lys197
  • Modification sites at PhosphoSitePlus

  • See BPGM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001715.1  NP_954655.1  

    ENSEMBL proteins: 
     ENSP00000342032   ENSP00000399838   ENSP00000376840   ENSP00000403050  

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    Novus Biologicals BPGM Proteins
    Novus Biologicals BPGM Lysates
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    ProSpec Recombinant Protein for BPGM
    Cloud-Clone Corp. Proteins for BPGM

     
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    antibodies-online proteins for BPGM (22 products) 

     
    antibodies-online peptides for BPGM

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    Cloud-Clone Corp. ELISAs for BPGM
    Cloud-Clone Corp. CLIAs for BPGM
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    antibodies-online kits for BPGM (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001345 PG/BPGM_mutase_AS
     IPR005952 Phosphogly_mut1
     IPR013078 His_Pase_superF_clade-1

    Graphical View of Domain Structure for InterPro Entry P07738

    ProtoNet protein and cluster: P07738

    1 Blocks protein domain: IPB001345 Phosphoglycerate/bisphosphoglycerate mutase

    UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
    Similarity: Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily


    Find genes that share domains with BPGM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PMGE_HUMAN, P07738
    Function: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric
    effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.1) and phosphatase (EC 3.1.3.13)
    activities
    Catalytic activity: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
    Catalytic activity: 2-phospho-D-glycerate = 3-phospho-D-glycerate
    Catalytic activity: 2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate
    Enzyme regulation: At alkaline pH BPGM favors the synthase reaction; however, at lower pH the phosphatase reaction
    is dominant. Inhibited by citrate

         Genatlas biochemistry entry for BPGM:
    2,3-bisphosphoglycerate mutase,glycolysis,energy pathway,Rapoport-Luebering shunt,major regulation of
    biphosphoglycerate concentration in erythrocyte

         Enzyme Numbers (IUBMB): EC 5.4.2.41 EC 3.1.3.131 EC 5.4.2.111

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004082bisphosphoglycerate mutase activity IEA--
    GO:0004083bisphosphoglycerate 2-phosphatase activity IEA--
    GO:0004619phosphoglycerate mutase activity IEA--
    GO:0016868intramolecular transferase activity, phosphotransferases ----
         
    Find genes that share ontologies with BPGM           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BPGM

    miRNA
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    miRTarBase miRNAs that target BPGM:
    hsa-mir-122-5p (MIRT023275), hsa-mir-128-3p (MIRT022045), hsa-mir-181a-5p (MIRT025166), hsa-mir-340-3p (MIRT043853), hsa-mir-148b-3p (MIRT019319)

    Block miRNA regulation of human, mouse, rat BPGM using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate BPGM:
    hsa-miR-875-3p hsa-miR-3065-3p hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidBPGM 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BPGM

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    GenScript: all cDNA clones in your preferred vector (see all 2): BPGM (NM_199186)
    Sino Biological Human cDNA Clone for BPGM
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BPGM

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus3
    mitochondrion2
    chloroplast1
    endoplasmic reticulum1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BPGM About    
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    gluconeogenesis0.39
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.00
    2Citric acid cycle (TCA cycle)
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    3Metabolism
    Metabolic pathways0.38
    4Rapoport-Luebering glycolytic shunt
    Rapoport-Luebering glycolytic shunt
    5Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism


    Find genes that share SuperPaths with BPGM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for BPGM
        Glycolysis and gluconeogenesis (short map)

    4 BioSystems Pathways for BPGM
        Rapoport-Luebering glycolytic shunt
    glycolysis
    gluconeogenesis
    conversion of glucose to acetyl CoA and entry into the TCA cycle



    3 Kegg Pathways  (Kegg details for BPGM):
        Glycolysis / Gluconeogenesis
    Glycine, serine and threonine metabolism
    Metabolic pathways

        Pathway & Disease-focused RT2 Profiler PCR Array including BPGM: 
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BPGM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BPGM (P077383 ENSP000003420324) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHP044063, ENSP000002292394I2D: score=2 STRING: ENSP00000229239
    AKT1P317493, ENSP000002702024I2D: score=2 STRING: ENSP00000270202
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    ENO1ENSP000002345904STRING: ENSP00000234590
    ENO2ENSP000002292774STRING: ENSP00000229277
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS2542247
    GO:0006096glycolytic process IEA--
    GO:0007585respiratory gaseous exchange TAS2542247
    GO:0048821erythrocyte development IEA--

    Find genes that share ontologies with BPGM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BPGM (PMGE)

    4 HMDB Compounds for BPGM    About this table
    CompoundSynonyms CAS #PubMed Ids
    2,3-Diphosphoglyceric acid(2R)-2,3-bis(phosphonooxy)-Propanoic acid (see all 20)138-81-8--
    2-Phosphoglyceric acid2-(dihydrogen phosphate)Glycerate (see all 16)2553-59-5--
    3-Phosphoglyceric acid3-(dihydrogen phosphate)Glycerate (see all 21)820-11-1--
    Glyceric acid 1,3-biphosphate1,3-Biphosphoglycerate (see all 25)1981-49-3--

    6 Novoseek inferred chemical compound relationships for BPGM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    23-diphosphoglycerate 92.9 17 9832630 (3), 18413611 (3), 15258155 (1), 2145041 (1) (see all 9)
    3-phosphoglycerate 81.9 3 9099261 (1), 8170953 (1)
    phosphoglycolate 80.8 4 9162026 (3), 9099261 (1)
    pyruvate 36.3 1 15048986 (1)
    histidine 23.4 1 17052986 (1)
    oxygen 0 1 9832630 (1)



    Find genes that share compounds with BPGM           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BPGM gene (2 alternative transcripts): 
    NM_001724.4  NM_199186.2  

    Unigene Cluster for BPGM:

    2,3-bisphosphoglycerate mutase
    Hs.198365  [show with all ESTs]
    Unigene Representative Sequence: NM_199186
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344924(uc003vrw.3) ENST00000418040 ENST00000393132(uc003vrv.3)
    ENST00000443095
    miRNA
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    hsa-miR-875-3p hsa-miR-3065-3p hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidBPGM 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat BPGM
      QuantiFast Probe-based Assays in human, mouse, rat BPGM

    Additional mRNA sequence: 

    AB209044.1 AK097778.1 AK315439.1 BC017050.1 X04327.1 

    21 DOTS entries:

    DT.101977428  DT.315226  DT.100808810  DT.100808817  DT.75103877  DT.95289926  DT.100808820  DT.100808807 
    DT.100808813  DT.100835729  DT.40116900  DT.100766481  DT.100734968  DT.121061130  DT.92448520  DT.100662314 
    DT.100776864  DT.121060684  DT.40194658  DT.92448521  DT.95139112 

    Selected AceView cDNA sequences (see all 338):

    CR603055 CR598334 BI753556 BU660090 AL554880 AU134644 BI821120 AU137396 
    CB111580 AI174941 AU139082 CB120317 CR606892 CN482687 AU138641 AU138182 
    BM463224 BC017050 CR602739 CR622667 AI580517 CR619111 CR590616 AU102730 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BPGM    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7
    SP1:              -     -     -                                             
    SP2:                    -     -                                             
    SP3:              -           -                                             
    SP4:              -     -     -                                             
    SP5:                                                                        


    ECgene alternative splicing isoforms for BPGM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BPGM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATAGCAG
    BPGM Expression
    About this image


    BPGM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)
             Trachea
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
    BPGM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPGM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.198365

    UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
    Tissue specificity: Expressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the
    syncytiotrophoblast layer of the placental villi at the feto-maternal interface (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including BPGM: 
              Glucose Metabolism in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat BPGM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPGM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BPGM gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpgm1 , 5 2,3-bisphosphoglycerate mutase1, 5 87.39(n)1
    92.28(a)1
      6 (15.01 cM)5
    121831  NM_007563.41  NP_031589.11 
     344762075 
    chicken
    (Gallus gallus)
    Aves BPGM1 2,3-bisphosphoglycerate mutase 74.65(n)
    82.63(a)
      418172  NM_001030768.1  NP_001025939.1 
    lizard
    (Anolis carolinensis)
    Reptilia BPGM6
    2,3-bisphosphoglycerate mutase
    70(a)
    1 ↔ 1
    5(14469641-14491594)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144862 Xenopus laevis transcribed sequence with moderate similarity more 74.27(n)    BJ081177.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bpgm1 2,3-bisphosphoglycerate mutase 66.28(n)
    73.36(a)
      436903  NM_001002630.1  NP_001002630.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70593 phosphoglycerate mutase 41(a)   94A11   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPM3(YOL056W)4 Homolog of Gpm1p phosphoglycerate mutase, which converts more   --   15(223268-224179) 854098  NP_014585.1 


    ENSEMBL Gene Tree for BPGM (if available)
    TreeFam Gene Tree for BPGM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BPGM gene
    PGAM12  PGAM22  PGAM42  
    3 SIMAP similar genes for BPGM using alignment to 2 protein entries:     PMGE_HUMAN (see all proteins):
    PGAM1    PGAM4    PGAM2

    Find genes that share paralogs with BPGM           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for BPGM (see all 721)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0653674
    Bisphosphoglycerate mutase deficiency (BPGMD)4--see VAR_0653672 R Q mis40--------
    VAR_0653684
    Bisphosphoglycerate mutase deficiency (BPGMD)4--see VAR_0653682 R C mis40--------
    rs789792161,2
    F--128643611(+) AGAAAC/TTGCCA 2 -- int11Minor allele frequency- T:0.50NA 4
    rs1462160731,2
    C--133673914(+) TAAGCG/TTCAGT 2 -- us2k10--------
    rs1887251211,2
    --133674016(+) TCTTTA/GCCTTA 2 -- us2k10--------
    rs1390585951,2
    C--133674058(+) ACCTCA/GTTATT 2 -- us2k10--------
    rs1416416521,2
    --133674180(+) ACTCCC/TGAAAT 2 -- us2k10--------
    rs1505174531,2
    C--133674224(+) CATGCC/TTGCTC 2 -- us2k10--------
    rs1394030891,2
    --133674243(+) AATCTA/GCTTTT 2 -- us2k10--------
    rs1500727531,2
    --133674347(+) AGGCAA/TGTGAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BPGM (134331531 - 134364568 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BPGM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2541159CNV Deletion19546169
    esv2735181CNV Deletion23290073
    esv3182CNV Deletion18987735
    esv2142865CNV Deletion18987734
    nsv5958CNV Insertion18451855
    nsv889224CNV Loss21882294
    nsv366336CNV Loss16902084
    esv5725CNV Loss19470904
    nsv889223CNV Gain21882294

    Human Gene Mutation Database (HGMD): BPGM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BPGM
    DNA2.0 Custom Variant and Variant Library Synthesis for BPGM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613896   
    OMIM disorders: 222800  
    UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
  • Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]: A disease characterized by hemolytic anemia,
    splenomegaly, cholelithiasis and cholecystitis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 1 disease for BPGM:    
    About MalaCards
    erythrocytosis due to bisphosphoglycerate mutase deficiency

    1 disease from the University of Copenhagen DISEASES database for BPGM:
    Glycogen storage disease

    Find genes that share disorders with BPGM           About GenesLikeMe

    Genatlas disease: BPGM
    erythrocytosis

    Genetic Association Database (GAD): BPGM

    Export disorders for BPGM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BPGM gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with BPGM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural modeling of the human erythrocyte bisphosphoglycerate mutase. (PubMed id 1387804)1, 2, 9 Craescu C.T.... Edelstein S.J. (Biochimie 1992)
    2. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. (PubMed id 17052986)1, 2, 9 Wang Y.... Gong W. (J. Biol. Chem. 2006)
    3. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. (PubMed id 9832630)1, 2, 9 Fujita T.... Taniguchi N. (J. Biochem. 1998)
    4. Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding. (PubMed id 21045285)1, 2 Patterson A.... Nairn J. (Acta Crystallogr. F 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    8. The platelet-activating factor acetylhydrolase from human erythrocytes. Purification and properties. (PubMed id 8440681)1, 2 Stafforini D.M.... McIntyre T.M. (J. Biol. Chem. 1993)
    9. Isolation, characterization, and structure of a mutant 89 ArgTO: bisphosphoglycerate mutase. Implication of the active site in the mutation. (PubMed id 2542247)1, 2 Rosa R.... Rosa J. (J. Biol. Chem. 1989)
    10. Isolation and characterization of the human 2,3-bisphosphoglycerate mutase gene. (PubMed id 2844822)1, 2 Joulin V....Cohen-Solal M. (J. Biol. Chem. 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 669 HGNC: 1093 AceView: BPGM Ensembl:ENSG00000172331 euGenes: HUgn669
    ECgene: BPGM Kegg: 669 H-InvDB: BPGM

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BPGM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BPGM gene:
    Search GeneIP for patents involving BPGM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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