bisphosphoglycerate mutase

Summary
Gene Symbol
  • BPGM
Organism
Homo sapiens (human)
External Links
NCBI Gene
669
HGNC
1093
KEGG Gene ID
hsa:669
PubChem
669
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Congenital erythrocytosis
  • Direct protein sequencing
  • Disease variant
  • Glycation
  • Glycolysis
  • Hereditary hemolytic anemia
  • Hydrolase
  • Isomerase
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A024R782
P07738
  • 2,3-bisphosphoglycerate mutase, erythrocyte
  • 2,3-bisphosphoglycerate synthase
  • 2,3-diphosphoglycerate mutase
  • BPG-dependent PGAM
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000172331

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 12 in total
DO ID Disease Name Source
DOID:0060474 familial erythrocytosis 2
DOID:0111630 familial erythrocytosis 8
DOID:10211 cholelithiasis
DOID:11151 cholecystolithiasis
DOID:11755 choledocholithiasis
DOID:1949 cholecystitis
DOID:2834 acquired polycythemia
DOID:2838 stress polycythemia
DOID:2839 erythropoietin polycythemia
DOID:720 normocytic anemia
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001744 Splenomegaly
HP:0001899 Increased hematocrit
HP:0001900 Increased hemoglobin
HP:0001900 Increased circulating hemoglobin concentration
HP:0001901 Polycythemia
HP:0003581 Adult onset
Displaying 1 entry
Disease ID Disease Name
OMIM:222800
  • hemolytic anemia due to diphosphoglycerate mutase deficiency

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024