Homo sapiens Gene: BPGM
Summary
InnateDB Gene IDBG-42253.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BPGM
Gene Name 2,3-bisphosphoglycerate mutase
Synonyms DPGM
Species Homo sapiens
Ensembl Gene ENSG00000172331
Encoded Proteins
2,3-bisphosphoglycerate mutase
2,3-bisphosphoglycerate mutase
2,3-bisphosphoglycerate mutase
2,3-bisphosphoglycerate mutase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:134646808-134679813
Strand Forward strand
Band q33
Transcripts
ENST00000344924 ENSP00000342032
ENST00000393132 ENSP00000376840
ENST00000418040 ENSP00000399838
ENST00000443095 ENSP00000403050
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 10 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004082 bisphosphoglycerate mutase activity
GO:0004083 bisphosphoglycerate 2-phosphatase activity
GO:0004619 phosphoglycerate mutase activity
GO:0016868 intramolecular transferase activity, phosphotransferases
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006096 glycolytic process
GO:0007585 respiratory gaseous exchange
GO:0016311 dephosphorylation
GO:0048821 erythrocyte development
Cellular Component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Glycolysis / Gluconeogenesis pathway
Glycine, serine and threonine metabolism pathway
INOH
Glycolysis Gluconeogenesis pathway
PID NCI
Cross-References
SwissProt P07738
TrEMBL A0A024R782 C9JH23
UniProt Splice Variant
Entrez Gene 669
UniGene Hs.198365 Hs.596175
RefSeq NM_199186 NM_001293085 NM_001724
HUGO HGNC:1093
OMIM 613896
CCDS CCDS5833
HPRD 01961
IMGT
EMBL AC009276 AK315439 BC017050 CH236950 CH471070 M23067 M23068 X04327
GenPept AAA51840 AAH17050 BAG37827 CAA27858 EAL24067 EAW83821 EAW83822 EAW83823 EAW83824
RNA Seq Atlas 669