BPGM

GENE INFORMATION

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Gene name

BPGM

Synonyms

Description

2,3-bisphosphoglycerate mutase (HGNC Symbol)

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]

Chromosome

7

Cytoband

q33

Chromosome location (bp)

134646808 - 134679813

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000172331 (version 78.38)

Entrez gene

669

UniProt

P07738 (UniProt - Evidence at protein level)

neXtProt

NX_P07738

Antibodypedia

BPGM antibodies
 

PROTEIN VIEW

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BPGM-001
 
BPGM-003
 
BPGM-004
 
BPGM-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BPGM-001 ENSP00000342032
ENST00000344924
P07738
Show all »
Show » Show » 259 30 No 0
BPGM-003 ENSP00000399838
ENST00000418040
P07738
Show all »
Show » Show » 259 30 No 0
BPGM-004 ENSP00000376840
ENST00000393132
P07738
Show all »
Show » Show » 259 30 No 0
BPGM-005 ENSP00000403050
ENST00000443095
C9JH23
Show all »
Show » Show » 78 9.2 No 0