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Aliases for BPGM Gene

Aliases for BPGM Gene

  • 2,3-Bisphosphoglycerate Mutase 2 3
  • 2,3-Bisphosphoglycerate Mutase, Erythrocyte 3 4
  • 2,3-Bisphosphoglycerate Synthase 3 4
  • 2,3-Diphosphoglycerate Mutase 3 4
  • BPG-Dependent PGAM 3 4
  • DPGM 3 4
  • Erythrocyte 2,3-Bisphosphoglycerate Mutase 3
  • Bisphosphoglycerate Mutase 3
  • EC 3.1.3.13 4
  • EC 5.4.2.11 4
  • EC 5.4.2.4 4

External Ids for BPGM Gene

Previous GeneCards Identifiers for BPGM Gene

  • GC07P132674
  • GC07P133733
  • GC07P133747
  • GC07P133788
  • GC07P133982
  • GC07P134331
  • GC07P128633

Summaries for BPGM Gene

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 and hemolytic anemia due to diphosphoglycerate mutase deficiency. Among its related pathways are Metabolism and Glycine, serine and threonine metabolism. GO annotations related to this gene include bisphosphoglycerate mutase activity and phosphoglycerate mutase activity. An important paralog of this gene is PGAM1.

UniProtKB/Swiss-Prot for BPGM Gene

  • 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPGM Gene

Genomics for BPGM Gene

Regulatory Elements for BPGM Gene

Genomic Location for BPGM Gene

Start:
134,646,779 bp from pter
End:
134,679,816 bp from pter
Size:
33,038 bases
Orientation:
Plus strand

Genomic View for BPGM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BPGM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPGM Gene

Proteins for BPGM Gene

  • Protein details for BPGM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07738-PMGE_HUMAN
    Recommended name:
    Bisphosphoglycerate mutase
    Protein Accession:
    P07738
    Secondary Accessions:
    • A4D1N9

    Protein attributes for BPGM Gene

    Size:
    259 amino acids
    Molecular mass:
    30005 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for BPGM Gene

neXtProt entry for BPGM Gene

Proteomics data for BPGM Gene at MOPED

Post-translational modifications for BPGM Gene

  • Glycation of Lys-159 in diabetic patients inactivates the enzyme
  • Ubiquitination at Lys5
  • Glycosylation at Lys3, Lys5, Lys18, Lys43, Lys159, and Lys197
  • Modification sites at PhosphoSitePlus

Other Protein References for BPGM Gene

No data available for DME Specific Peptides for BPGM Gene

Domains for BPGM Gene

Suggested Antigen Peptide Sequences for BPGM Gene

Graphical View of Domain Structure for InterPro Entry

P07738

UniProtKB/Swiss-Prot:

PMGE_HUMAN :
  • P07738
Family:
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
genes like me logo Genes that share domains with BPGM: view

No data available for Gene Families for BPGM Gene

Function for BPGM Gene

Molecular function for BPGM Gene

GENATLAS Biochemistry: 2,3-bisphosphoglycerate mutase,glycolysis,energy pathway,Rapoport-Luebering shunt,major regulation of biphosphoglycerate concentration in erythrocyte
UniProtKB/Swiss-Prot CatalyticActivity: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
UniProtKB/Swiss-Prot CatalyticActivity: 2-phospho-D-glycerate = 3-phospho-D-glycerate
UniProtKB/Swiss-Prot CatalyticActivity: 2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: At alkaline pH BPGM favors the synthase reaction; however, at lower pH the phosphatase reaction is dominant. Inhibited by citrate.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for BPGM Gene

Gene Ontology (GO) - Molecular Function for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004083 bisphosphoglycerate 2-phosphatase activity IEA --
GO:0004619 phosphoglycerate mutase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases --
genes like me logo Genes that share ontologies with BPGM: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BPGM

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for BPGM Gene

Localization for BPGM Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BPGM Gene COMPARTMENTS Subcellular localization image for BPGM gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
mitochondrion 2
chloroplast 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with BPGM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BPGM Gene

Pathways for BPGM Gene

genes like me logo Genes that share pathways with BPGM: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 2542247
GO:0006096 glycolytic process IEA --
GO:0007585 respiratory gaseous exchange TAS 2542247
GO:0016311 dephosphorylation IEA --
GO:0048821 erythrocyte development IEA --
genes like me logo Genes that share ontologies with BPGM: view

Compounds for BPGM Gene

(4) HMDB Compounds for BPGM Gene

Compound Synonyms Cas Number PubMed IDs
2,3-Diphosphoglyceric acid
  • (2R)-2,3-bis(phosphonooxy)-Propanoic acid
138-81-8
2-Phosphoglyceric acid
  • 2-(dihydrogen phosphate)Glycerate
2553-59-5
3-Phosphoglyceric acid
  • 3-(dihydrogen phosphate)Glycerate
820-11-1
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
1981-49-3

(6) Novoseek inferred chemical compound relationships for BPGM Gene

Compound -log(P) Hits PubMed IDs
23-diphosphoglycerate 92.9 13
3-phosphoglycerate 81.9 2
phosphoglycolate 80.8 4
pyruvate 36.3 1
histidine 23.4 1
genes like me logo Genes that share compounds with BPGM: view

Transcripts for BPGM Gene

Unigene Clusters for BPGM Gene

2,3-bisphosphoglycerate mutase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BPGM

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BPGM Gene

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

Relevant External Links for BPGM Gene

GeneLoc Exon Structure for
BPGM
ECgene alternative splicing isoforms for
BPGM

Expression for BPGM Gene

mRNA expression in normal human tissues for BPGM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BPGM Gene

This gene is overexpressed in Whole Blood (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BPGM Gene

SOURCE GeneReport for Unigene cluster for BPGM Gene Hs.198365

mRNA Expression by UniProt/SwissProt for BPGM Gene

P07738-PMGE_HUMAN
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).
genes like me logo Genes that share expressions with BPGM: view

In Situ Assay Products

Orthologs for BPGM Gene

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

Orthologs for BPGM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPGM 35
  • 99.36 (n)
  • 99.23 (a)
BPGM 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 92 (a)
OneToMany
BPGM 35
  • 89.58 (n)
  • 93.82 (a)
BPGM 36
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BPGM 35
  • 91.15 (n)
  • 94.92 (a)
BPGM 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bpgm 35
  • 87.39 (n)
  • 92.28 (a)
Bpgm 16
Bpgm 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BPGM 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPGM 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bpgm 35
  • 85.92 (n)
  • 91.09 (a)
chicken
(Gallus gallus)
Aves BPGM 35
  • 74.65 (n)
  • 82.63 (a)
BPGM 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BPGM 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14486 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bpgm 35
  • 70.98 (n)
  • 78.43 (a)
Str.1545 35
zebrafish
(Danio rerio)
Actinopterygii bpgm 35
  • 66.28 (n)
  • 73.36 (a)
bpgm 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7059 36
  • 39 (a)
OneToOne
CG7059 37
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 36
  • 49 (a)
OneToMany
GPM3 38
Species with no ortholog for BPGM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BPGM Gene

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

Paralogs for BPGM Gene

Paralogs for BPGM Gene

Selected SIMAP similar genes for BPGM Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BPGM: view

Variants for BPGM Gene

Sequence variations from dbSNP and Humsavar for BPGM Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs719340 -- 134,662,382(+) AGTTT(C/T)GGAAT intron-variant
rs727338 -- 134,652,045(+) TAAAT(A/G)ATTTA intron-variant
rs877718 -- 134,670,089(-) ATCCA(C/G)TGTTT intron-variant
rs889874 -- 134,657,423(+) TGAGG(G/T)TTTAA intron-variant
rs889875 -- 134,669,776(+) AGTCA(A/G)AACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BPGM Gene

Variant ID Type Subtype PubMed ID
nsv5958 CNV Insertion 18451855
nsv889223 CNV Gain 21882294
nsv889224 CNV Loss 21882294
esv2541159 CNV Deletion 19546169
esv2142865 CNV Deletion 18987734
esv3182 CNV Deletion 18987735
esv2735181 CNV Deletion 23290073
nsv366336 CNV Loss 16902084
esv5725 CNV Loss 19470904

Relevant External Links for BPGM Gene

HapMap Linkage Disequilibrium report
BPGM
Human Gene Mutation Database (HGMD)
BPGM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPGM Gene

Disorders for BPGM Gene

(1) OMIM Diseases for BPGM Gene (613896)

UniProtKB/Swiss-Prot

PMGE_HUMAN
  • Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]: A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis. {ECO:0000269 PubMed:1421379, ECO:0000269 PubMed:15054810}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for BPGM Gene

Genatlas disease for BPGM Gene

Erythrocytosis

Relevant External Links for BPGM

Genetic Association Database (GAD)
BPGM
genes like me logo Genes that share disorders with BPGM: view

Publications for BPGM Gene

  1. Structural modeling of the human erythrocyte bisphosphoglycerate mutase. (PMID: 1387804) Craescu C.T. … Edelstein S.J. (Biochimie 1992) 3 4 23
  2. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. (PMID: 9832630) Fujita T. … Taniguchi N. (J. Biochem. 1998) 3 4 23
  3. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. (PMID: 17052986) Wang Y. … Gong W. (J. Biol. Chem. 2006) 3 4 23
  4. Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. (PMID: 15054810) Hoyer J.D. … Fairbanks V.F. (Am. J. Hematol. 2004) 4 23
  5. Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. (PMID: 1421379) Lemarchandel V. … Cohen-Solal M. (Blood 1992) 4 23

Products for BPGM Gene

Sources for BPGM Gene

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