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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-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
  • 2,3-Bisphosphoglycerate Mutase 2
  • 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 Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are 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 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 activity.

Additional gene information for BPGM Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H134618 1.1 Ensembl ENCODE dbSUPER 17.9 -27.1 -27129 2.9 RFX1 JUN ATF2 JUND POLR2A CREB1 ATF7 FOS BPGM AKR1B15 AGBL3 GC07M134627 LOC105375520
GH07H134689 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +46.3 46340 7 BCOR CTCF TFAP4 PKNOX1 IRF2 ZMYM3 RAD21 FOSL1 GATA3 POLR2A CALD1 BPGM WDR91 ENSG00000231794 AKR1B1 ENSG00000224375 TUBB3P2
GH07H134668 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +23.1 23094 3 JUN CTBP1 GATA3 POLR2A FOS RCOR1 RUNX3 MAFK SMARCE1 L3MBTL2 TMEM140 C7orf49 WDR91 ENSG00000231794 BPGM ENSG00000224375
GH07H134605 1.2 Ensembl ENCODE dbSUPER 11.7 -40.5 -40520 1.1 CTCF SIN3A RAD21 CC2D1A GTF3C2 GATA3 ZNF316 POLR3A SMC3 ZNF143 NUP205 BPGM WDR91 GC07M134627 LOC105375520
GH07H134593 1.4 Ensembl ENCODE dbSUPER 9.4 -52.7 -52686 2.1 HDAC1 FOXA2 PKNOX1 ATF1 TBL1XR1 ARNT RAD21 CHAMP1 YY1 TCF12 BPGM GC07M134627 LOC105375520
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000218470 121 2201 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Locations for BPGM Gene

Genomic Locations for BPGM Gene
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

Post-translational modifications for BPGM Gene

  • Glycation of Lys-159 in diabetic patients inactivates the enzyme.
  • Ubiquitination at posLast=55
  • Glycosylation at Lys3, posLast=55, posLast=1818, Lys43, Lys159, and posLast=197197
  • 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

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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 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 activity.

Enzyme Numbers (IUBMB) for BPGM Gene

Phenotypes From GWAS Catalog for BPGM Gene

Gene Ontology (GO) - Molecular Function for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity TAS,IEA --
GO:0004619 phosphoglycerate mutase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
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

Clone Products

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

Localization for BPGM Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPGM gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA,TAS --
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 & Interactions for BPGM Gene

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

Pathways by source for BPGM Gene

Gene Ontology (GO) - Biological Process for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 2542247
GO:0006094 gluconeogenesis IBA --
GO:0006096 glycolytic process IEA,IBA --
GO:0007585 respiratory gaseous exchange TAS 2542247
GO:0008152 metabolic process 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

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

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

(6) 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
2-Phosphoglyceric acid
  • 2-(Dihydrogen phosphate)Glycerate
  • 2-(Dihydrogen phosphate)Glyceric acid
  • 2-P-D-Glycerate
  • 2-P-D-Glyceric acid
  • 2-P-Glycerate
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
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:

Clone 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: - - -

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for BPGM Gene

NURSA nuclear receptor signaling pathways regulating expression of BPGM Gene:


SOURCE GeneReport for Unigene cluster for BPGM Gene:


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).

Evidence on tissue expression from TISSUES for BPGM Gene

  • Nervous system(4.3)
  • Heart(4.2)
  • Intestine(4.2)
  • Liver(4.2)
  • Blood(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BPGM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Head and neck:
  • eye
  • head
  • mouth
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • blood
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BPGM: view

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
(Pan troglodytes)
Mammalia BPGM 33 34
  • 99.36 (n)
(Bos Taurus)
Mammalia -- 34
  • 92 (a)
BPGM 33 34
  • 89.58 (n)
(Canis familiaris)
Mammalia BPGM 33 34
  • 91.15 (n)
(Monodelphis domestica)
Mammalia BPGM 34
  • 90 (a)
(Mus musculus)
Mammalia Bpgm 33 16 34
  • 87.39 (n)
(Rattus norvegicus)
Mammalia Bpgm 33
  • 85.92 (n)
(Ornithorhynchus anatinus)
Mammalia BPGM 34
  • 61 (a)
(Gallus gallus)
Aves BPGM 33 34
  • 74.65 (n)
(Anolis carolinensis)
Reptilia BPGM 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bpgm 33
  • 70.98 (n)
Str.1545 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14486 33
(Danio rerio)
Actinopterygii bpgm 33 34
  • 66.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7059 35 34
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 34
  • 49 (a)
GPM3 36
Species where no ortholog for BPGM was found in the sources mined by GeneCards:
  • 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
rs121964925 Pathogenic, Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] 134,661,775(+) ATGAG(C/T)GTCAC reference, missense
rs751972865 Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] 134,661,692(+) TAATC(A/G)GTCCA reference, missense
rs786205092 Pathogenic 134,661,568(+) AGAAC(-/C)GTTTT reference, frameshift-variant
rs1000046485 -- 134,660,947(+) GTGGT(C/G)CATTG intron-variant
rs1000314010 -- 134,668,663(+) CTGTT(G/T)AGTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv957590 CNV deletion 24416366
nsv5958 CNV insertion 18451855
nsv472556 CNV novel sequence insertion 20440878
nsv366336 CNV deletion 16902084
nsv1154035 CNV deletion 26484159
esv5725 CNV loss 19470904
esv3542464 CNV deletion 23714750
esv3182 CNV loss 18987735
esv2762705 CNV loss 21179565
esv2761369 CNV loss 21179565
esv2735181 CNV deletion 23290073
esv2541159 CNV deletion 19546169
esv2142865 CNV deletion 18987734
dgv3671n106 CNV deletion 24896259

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for BPGM Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
erythrocytosis due to bisphosphoglycerate mutase deficiency
  • diphosphoglycerate mutase deficiency of erythrocyte
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
- 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, ECO:0000269 PubMed:2542247}. 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. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. (PMID: 17052986) Wang Y … Gong W (The Journal of biological chemistry 2006) 3 4 22 60
  2. Crystal structure of human bisphosphoglycerate mutase. (PMID: 15258155) Wang Y … Gong W (The Journal of biological chemistry 2004) 3 4 22 60
  3. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. (PMID: 9832630) Fujita T … Taniguchi N (Journal of biochemistry 1998) 3 4 22 60
  4. Structural modeling of the human erythrocyte bisphosphoglycerate mutase. (PMID: 1387804) Craescu CT … Edelstein S (Biochimie 1992) 3 4 22 60
  5. Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding. (PMID: 21045285) Patterson A … Nairn J (Acta crystallographica. Section F, Structural biology and crystallization communications 2010) 3 4 60

Products for BPGM Gene

Sources for BPGM Gene

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