phosphoglycerate mutase 2

Summary
Gene Symbol
  • PGAM2
Aliases
  • PGAM-M
Organism
Homo sapiens (human)
External Links
NCBI Gene
5224
HGNC
8889
KEGG Gene ID
hsa:5224
PubChem
5224
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Glycogen storage disease
  • Glycolysis
  • Hydrolase
  • Isomerase
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P15259
  • BPG-dependent PGAM 2
  • Muscle-specific phosphoglycerate mutase
  • Phosphoglycerate mutase isozyme M
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000164708

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.

KEGG BRITE Database
Orthology
K01834
Name
2,3-bisphosphoglycerate-dependent phosphoglycerate mutase [EC:5.4.2.11]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 51 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050569 Seckel syndrome
DOID:0060254 Robinow syndrome
DOID:0060578 Noonan syndrome 1
DOID:0060580 Noonan syndrome 2
DOID:0060581 Noonan syndrome 3
DOID:0060582 Noonan syndrome 4
DOID:0060583 Noonan syndrome 5
DOID:0060584 Noonan syndrome 6
DOID:0060585 Noonan syndrome 7
The Human Phenotype Ontology
Displaying all 9 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000083 Renal insufficiency
HP:0002913 Myoglobinuria
HP:0003198 Myopathy
HP:0003201 Rhabdomyolysis
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003546 Exercise intolerance
HP:0003710 Exercise-induced muscle cramps
HP:0003738 Exercise-induced myalgia
Displaying 1 entry
Disease ID Disease Name
OMIM:261670
  • glycogen storage disease due to phosphoglycerate mutase deficiency

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Acknowledgements

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Last updated: August 19, 2024