• Gene id: 669

Gene Summary

• Gene Symbol: BPGM   Gene   UCSC   Ensembl
• Aliases: DPGM, ECYT8
• Gene name: bisphosphoglycerate mutase
• Alternate names: bisphosphoglycerate mutase, 2,3-bisphosphoglycerate mutase, erythrocyte, 2,3-bisphosphoglycerate synthase, 2,3-diphosphoglycerate mutase, BPG-dependent PGAM, erythrocyte 2,3-bisphosphoglycerate mutase, testis secretory sperm-binding protein Li 202a,
• Gene location: 7q33 (134646778: 134679815)     Exons: 6     NC_000007.14
• Gene summary(Entrez): 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 syn
• OMIM: 613896

Protein Summary

• Protein general information: P07738  
  • Name: Bisphosphoglycerate mutase (BPGM) (EC 5.4.2.4) (2,3 bisphosphoglycerate mutase, erythrocyte) (2,3 bisphosphoglycerate synthase) (EC 5.4.2.11) (2,3 diphosphoglycerate mutase) (DPGM) (BPG dependent PGAM)
  • Length: 259  
  • Mass: 30005
  • 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). {ECO
• Sequence:

  MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVLNRSIHTAWLILEELG
  QEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLD
  QLPRSESLKDVLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDEN
  LRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK

• Structural information:
  • Interpro: IPR013078  IPR029033  IPR001345  IPR005952  
  • Prosite: PS00175
  • CDD: cd07067
  • PDB: 1T8P 2A9J 2F90 2H4X 2H4Z 2H52 2HHJ 3NFY
  • PDBsum: 1T8P 2A9J 2F90 2H4X 2H4Z 2H52 2HHJ 3NFY
  • STRING: ENSP00000376840
• Other Databases: GeneCards:  BPGM  Malacards:  BPGM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	IEA	molecular function
GO:0004619	phosphoglycerate mutase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016868	intramolecular transferase activity, phosphotransferases	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0004082	bisphosphoglycerate mutase activity	TAS	molecular function
GO:0007585	respiratory gaseous exchange by respiratory system	TAS	biological process
GO:0005975	carbohydrate metabolic process	NAS	biological process
GO:0004082	bisphosphoglycerate mutase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048821	erythrocyte development	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00010	Glycolysis / Gluconeogenesis
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Anemia due to disorders of glycolytic enzymes	KEGG:H00664
Anemia due to disorders of glycolytic enzymes	KEGG:H00664
Familial erythrocytosis 8	PMID:1421379
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)