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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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BPGM
bisphosphoglycerate mutase
Chromosome 7 Β· 7q33
NCBI Gene: 669Ensembl: ENSG00000172331.13HGNC: HGNC:1093UniProt: A0A024R782
37PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeprotein bindingcytosolbisphosphoglycerate mutase activityhemolytic anemia due to diphosphoglycerate mutase deficiencyautosomal recessive secondary polycythemia not associated with VHL geneplacenta praeviavertebral column disorder
✦AI Summary

BPGM (bisphosphoglycerate mutase) is a key metabolic enzyme that regulates oxygen delivery and cellular energy metabolism through multiple mechanisms. Its primary function involves controlling levels of 2,3-bisphosphoglycerate (2,3-BPG), a critical allosteric effector that modulates hemoglobin oxygen affinity and oxygen release capacity 1 2. BPGM operates through the Rapoport-Luebering shunt pathway, where it channels glucose metabolism toward glycolysis and promotes 2,3-BPG production 2 3. The enzyme is activated by AMPK signaling and sphingosine 1-phosphate (S1P), which triggers metabolic reprogramming in erythrocytes 2 1. Beyond erythrocytes, BPGM functions in various cell types including astrocytes, where it suppresses glycolysis under hypoxic conditions via HIF-1Ξ± and TET2 regulation 4, and oocytes, where it influences glucose metabolism during maturation 5. Clinically, BPGM expression serves as a biomarker for sepsis outcomes 6 and cancer prognosis, with altered expression patterns associated with cervical cancer progression 7 and hepatocellular carcinoma 8. BPGM deficiency impairs oxygen delivery capacity and contributes to tissue hypoxia in chr7 kidney disease 2 3.

Sources cited
1
BPGM controls oxygen release function and 2,3-BPG production in longevity individuals
PMID: 39924931
2
BPGM channels glucose metabolism toward Rapoport-Luebering shunt via AMPK and S1P signaling
PMID: 32284030
3
Erythrocyte BPGM promotes oxygen delivery and combats renal hypoxia in CKD
PMID: 37725437
4
BPGM suppresses glycolysis in hypoxic astrocytes through HIF-1Ξ± and TET2 regulation
PMID: 36334804
5
BPGM influences glucose metabolism during oocyte maturation and affects fertility
PMID: 40323314
6
BPGM serves as a biomarker for sepsis patient stratification
PMID: 28864056
7
BPGM downregulation is associated with cervical cancer progression and survival
PMID: 34976823
8
BPGM promotes hepatocellular carcinoma through RET lactylation and macrophage reprogramming
PMID: 41514495
Disease Associationsβ“˜21
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.68Moderate
autosomal recessive secondary polycythemia not associated with VHL geneOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.33Weak
vertebral column disorderOpen Targets
0.10Weak
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.06Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.05Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
erythrocytosis, familial, 4Open Targets
0.05Suggestive
gamma-glutamylcysteine synthetase deficiencyOpen Targets
0.05Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.05Suggestive
Erythrocytosis, familial, 8UniProt
Pathogenic Variants4
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)Pathogenic
Deficiency of bisphosphoglycerate mutase|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 90
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)Pathogenic
Deficiency of bisphosphoglycerate mutase
β˜†β˜†β˜†β˜†2020β†’ Residue 62
NM_001724.5(BPGM):c.61del (p.Arg21fs)Pathogenic
Deficiency of bisphosphoglycerate mutase
β˜†β˜†β˜†β˜†1992β†’ Residue 21
NM_001724.5(BPGM):c.269G>A (p.Arg90His)Pathogenic
Deficiency of bisphosphoglycerate mutase
β˜†β˜†β˜†β˜†1992β†’ Residue 90
View on ClinVar β†—
Related Genes
TPI1Protein interaction100%PGK2Protein interaction99%PGK1Protein interaction99%PGAM1Protein interaction99%TALDO1Protein interaction97%PKMProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
47%
Heart
31%
Lung
22%
Liver
15%
Ovary
12%
Gene Interaction Network
Click a node to explore
BPGMTPI1PGK2PGK1PGAM1TALDO1PKM
PROTEIN STRUCTURE
Preparing viewer…
PDB7THI Β· 1.33 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.99LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.43–0.99]
RankingsWhere BPGM stands among ~20K protein-coding genes
  • #10,595of 20,598
    Most Researched37
  • #3,817of 5,498
    Most Pathogenic Variants4
  • #9,460of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedBPGM
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study.
PMID: 28864056
Lancet Respir Med Β· 2017
1.00
2
Longevity Humans Have Youthful Erythrocyte Function and Metabolic Signatures.
PMID: 39924931
Aging Cell Β· 2025
0.90
3
FNDC3B and BPGM Are Involved in Human Papillomavirus-Mediated Carcinogenesis of Cervical Cancer.
PMID: 34976823
Front Oncol Β· 2021
0.80
4
Hepatocyte BPGM Induces RET Lactylation and Macrophage Reprogramming to Promote Tumorigenesis in Hepatocellular Carcinoma.
PMID: 41514495
Adv Sci (Weinh) Β· 2026
0.70
5
Erythrocyte Metabolic Reprogramming by Sphingosine 1-Phosphate in Chronic Kidney Disease and Therapies.
PMID: 32284030
Circ Res Β· 2020
0.60