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Gene : BPGM Homo sapiens

Name  ? bisphosphoglycerate mutase Cytological Location  7q33
Brief Description  bisphosphoglycerate mutase
Description  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]
  • synonyms:
  • BPGM,
  • DPGM,
  • uc003vrw.4,
  • 2,3-bisphosphoglycerate mutase,
  • NM_001724,
  • HGNC:1093,
  • BC017050,
  • ECYT8,
  • OTTHUMG00000155380
  • identifiers:
  • 669,
  • ENSG00000172331,
  • BPGM

Genome feature

Region: gene ? Length: 33038  
Location: 7:134646779-134679816 Cyto location: 7q33


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

19 Data Sets

0 Homologues

0 Located Features

97 Rna Seq Results