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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BPGM Gene

protein-coding   GIFtS: 65
GCID: GC07P134331

2,3-Bisphosphoglycerate Mutase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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 5.4.2.13
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 glycogen storage disease v, and cholecystitis, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BPGM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738 (See protein sequence)
Recommended Name: Bisphosphoglycerate mutase  
Size: 259 amino acids; 30005 Da
Subunit: Homodimer
6/8 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:

  • UniProtKB: Glycation of Lys-159 in diabetic patients inactivates the enzyme
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07738

  • BPGM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000342032   ENSP00000399838   ENSP00000376840   ENSP00000403050  

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    Cloud-Clone Corp. CLIAs for BPGM


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

    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


    BPGM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 5.4.2.11

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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 ----
         
    BPGM for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidBPGM 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BPGM About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.50
    gluconeogenesis0.39
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    2Metabolism
    Metabolic pathways0.40
    3Rapoport-Luebering glycolytic shunt
    Rapoport-Luebering glycolytic shunt
    4Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BPGM
        Glycolysis and gluconeogenesis (short map)


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

    4 BioSystems Pathways for BPGM
        Rapoport-Luebering glycolytic shunt
    gluconeogenesis
    glycolysis
    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


    BPGM for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPGM

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

    5/29 Interacting proteins for BPGM (P077383 ENSP000003420324) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS2542247
    GO:0006096glycolysis IEA--
    GO:0007585respiratory gaseous exchange TAS2542247

    BPGM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BPGM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about BPGM / PMGE

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    3 QIAGEN miScript miRNA 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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    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 

    24/338 AceView cDNA sequences (see all 338):

    CR619111 BP348475 CR626310 BI753556 BX463043 BP343120 CR626473 CR625091 
    BM981935 CR590616 CR602979 AU102728 BU664037 CR606892 BU157657 BM463224 
    AU279517 CR598334 CR610964 CR609356 CB121654 BQ918034 AK097778 CR603055 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BPGM expression in normal human tissues (normalized intensities)      BPGM embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Placenta (Extraembryonic Tissues)
             placenta ; trophoblastic cells   
     
     Blood (Hematopoietic System)
             umbilical cord reticulocytes   
     
     Eye (Sensory Organs)
             optic nerve head astrocytes   
     
     Oral Cavity (Gastrointestinal Tract)
             buccal mucosa   
     
     Lung (Respiratory System)
             Trachea

    See BPGM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BPGM

    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)

        SABiosciences Expression via Pathway-Focused PCR Array including BPGM: 
              Glucose Metabolism in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BPGM gene from 7/14 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
    Uncharacterized protein
    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)
    About This Section
    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

    BPGM for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/721 SNPs in BPGM are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613896    OMIM disorders: --

    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

  • 10 diseases for BPGM:    About MalaCards
    glycogen storage disease v    cholecystitis    hemolytic anemia    cholelithiasis
    splenomegaly    glycogen storage disease    sickle cell anemia    anemia
    pneumonia    tuberculosis

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

    BPGM for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for BPGM gene, integrated from 9 sources (see all 54):
    (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. (1992)
    2. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. (PubMed id 17052986)1, 2, 9 Wang Y....Gong W. (2006)
    3. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. (PubMed id 9832630)1, 2, 9 Fujita T.... Taniguchi N. (1998)
    4. Unliganded structure of human bisphosphoglycerate mut ase reveals side-chain movements induced by ligand binding. (PubMed id 21045285)1, 2 Patterson A....Nairn J. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    8. The platelet-activating factor acetylhydrolase from human erythrocytes. Purification and properties. (PubMed id 8440681)1, 2 Stafforini D.M.... McIntyre T.M. (1993)
    9. Isolation, characterization, and structure of a mutant 89 Arg----Cys bisphosphoglycerate mutase. Implication of the active site in the mutation. (PubMed id 2542247)1, 2 Rosa R....Rosa J. (1989)
    10. Isolation and characterization of the human 2,3-bisphosphoglycerate mutase gene. (PubMed id 2844822)1, 2 Joulin V....Cohen-Solal M. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 669 HGNC: 1093 AceView: BPGM Ensembl:ENSG00000172331 euGenes: HUgn669
    ECgene: BPGM Kegg: 669 H-InvDB: BPGM

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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