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Aliases for BPGM Gene

Aliases for BPGM Gene

  • Bisphosphoglycerate Mutase 2 3 5
  • 2,3-Bisphosphoglycerate Mutase, Erythrocyte 3 4
  • 2,3-Bisphosphoglycerate Synthase 3 4
  • 2,3-Bisphosphoglycerate Mutase 2 3
  • 2,3-Diphosphoglycerate Mutase 3 4
  • BPG-Dependent PGAM 3 4
  • DPGM 3 4
  • Testis Secretory Sperm-Binding Protein Li 202a 3
  • Erythrocyte 2,3-Bisphosphoglycerate Mutase 3
  • EC 4
  • EC 4
  • EC 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 (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 Glycosaminoglycan metabolism and Glucose metabolism. GO annotations related to this gene include intramolecular transferase activity, phosphotransferases and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM4.

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 and phosphatase (EC 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

Enhancers for BPGM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BPGM on UCSC Golden Path with GeneCards custom track

Promoters for BPGM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BPGM on UCSC Golden Path with GeneCards custom track

Genomic Location for BPGM Gene

134,646,779 bp from pter
134,679,816 bp from pter
33,038 bases
Plus strand

Genomic View for BPGM Gene

Genes around BPGM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPGM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Bisphosphoglycerate mutase
    Protein Accession:
    Secondary Accessions:
    • A4D1N9

    Protein attributes for BPGM Gene

    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 Lys 5
  • Glycosylation at Lys 3, Lys 5, Lys 18, Lys 43, Lys 159, and Lys 197
  • Modification sites at PhosphoSitePlus

Other Protein References for BPGM Gene

No data available for DME Specific Peptides for BPGM Gene

Domains & Families for BPGM Gene

Gene Families for BPGM Gene

Suggested Antigen Peptide Sequences for BPGM Gene

Graphical View of Domain Structure for InterPro Entry



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

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 and phosphatase (EC 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,TAS --
GO:0004619 phosphoglycerate mutase activity IEA --
GO:0046538 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IBA --
genes like me logo Genes that share ontologies with BPGM: view
genes like me logo Genes that share phenotypes with BPGM: view

Human Phenotype Ontology for BPGM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for BPGM Gene

Subcellular locations from

Jensen Localization Image for BPGM Gene COMPARTMENTS Subcellular localization image for BPGM gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 4
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BPGM Gene

Pathways & Interactions for BPGM Gene

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

Gene Ontology (GO) - Biological Process for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis IBA --
GO:0006096 glycolytic process IEA,IBA --
GO:0008152 metabolic process IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with BPGM: view

No data available for SIGNOR curated interactions for BPGM Gene

Drugs & Compounds for BPGM Gene

(5) Drugs for BPGM Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Phospho-D-glyceric acid Experimental Pharma 0
2-Phosphoglyceric acid Experimental Pharma 0
3-Phosphoglyceric acid Experimental Pharma 0

(8) Additional Compounds for BPGM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Diphosphoglyceric acid
  • (2R)-2,3-bis(phosphonooxy)-Propanoate
  • (2R)-2,3-bis(phosphonooxy)-Propanoic acid
  • (R)-2,3-bis(phosphonooxy)-Propanoate
  • (R)-2,3-bis(phosphonooxy)-Propanoic acid
  • 2,3-Bis(phosphonooxy)-Propanoate
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
  • Dihydrogen oxide
  • Steam
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:

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: - - -

Relevant External Links for BPGM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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 (x6.7).

Protein differential expression in normal tissues from HIPED for BPGM Gene

This gene is overexpressed in Lavage (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

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 expression patterns with BPGM: view

Primer Products

No data available for Protein tissue co-expression partners for BPGM Gene

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
(Bos Taurus)
Mammalia BPGM 35
  • 89.58 (n)
  • 93.82 (a)
-- 36
  • 92 (a)
  • 94 (a)
(Canis familiaris)
Mammalia BPGM 35
  • 91.15 (n)
  • 94.92 (a)
  • 94 (a)
(Mus musculus)
Mammalia Bpgm 35
  • 87.39 (n)
  • 92.28 (a)
Bpgm 16
Bpgm 36
  • 92 (a)
(Pan troglodytes)
Mammalia BPGM 35
  • 99.36 (n)
  • 99.23 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Bpgm 35
  • 85.92 (n)
  • 91.09 (a)
(Monodelphis domestica)
Mammalia BPGM 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia BPGM 36
  • 61 (a)
(Gallus gallus)
Aves BPGM 35
  • 74.65 (n)
  • 82.63 (a)
  • 83 (a)
(Anolis carolinensis)
Reptilia BPGM 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bpgm 35
  • 70.98 (n)
  • 78.43 (a)
Str.1545 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14486 35
(Danio rerio)
Actinopterygii bpgm 35
  • 66.28 (n)
  • 73.36 (a)
bpgm 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7059 37
  • 41 (a)
CG7059 36
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 36
  • 49 (a)
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

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

Paralogs for BPGM Gene

Paralogs for BPGM Gene

(3) 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
VAR_065367 Bisphosphoglycerate mutase deficiency (BPGMD)
VAR_065368 Bisphosphoglycerate mutase deficiency (BPGMD)
rs889874 -- 134,657,423(+) TGAGG(G/T)TTTAA intron-variant
rs1025095 -- 134,658,890(+) TGTGT(G/T)TATTT intron-variant, upstream-variant-2KB
rs1025096 -- 134,659,430(+) TTCTC(A/G)CAGGT intron-variant, upstream-variant-2KB

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

Variation tolerance for BPGM Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BPGM Gene

Human Gene Mutation Database (HGMD)

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

Disorders for BPGM Gene

MalaCards: The human disease database

(4) MalaCards diseases for BPGM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
erythrocytosis due to bisphosphoglycerate mutase deficiency
  • diphosphoglycerate mutase deficiency of erythrocyte
hemolytic anemia due to diphosphoglycerate mutase deficiency
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
  • acute and chronic cholecystitis
- elite association - COSMIC cancer census association via MalaCards
Search BPGM in MalaCards View complete list of genes associated with diseases


  • 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.

Genatlas disease for BPGM Gene


Relevant External Links for BPGM

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BPGM: view

Publications for BPGM Gene

  1. Crystal structure of human bisphosphoglycerate mutase. (PMID: 15258155) Wang Y. … Gong W. (J. Biol. Chem. 2004) 3 4 23 67
  2. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. (PMID: 17052986) Wang Y. … Gong W. (J. Biol. Chem. 2006) 3 23
  3. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. (PMID: 9832630) Fujita T. … Taniguchi N. (J. Biochem. 1998) 3 23
  4. Structural modeling of the human erythrocyte bisphosphoglycerate mutase. (PMID: 1387804) Craescu C.T. … Edelstein S.J. (Biochimie 1992) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for BPGM Gene

Sources for BPGM Gene