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)
Displaying entries 6 - 7 of 7 in total
GO Term Evidence Code PMID
striated muscle contraction
gluconeogenesis
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 11 - 20 of 51 in total
DO ID Disease Name Source
DOID:0060586 Noonan syndrome 8
DOID:0060587 Noonan syndrome 9
DOID:0060588 Noonan syndrome 10
DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I
DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II
DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome
DOID:0060764 autosomal recessive Robinow syndrome
DOID:0060765 autosomal dominant Robinow syndrome 2
DOID:0060766 autosomal dominant Robinow syndrome 1
DOID:0060767 autosomal dominant Robinow syndrome 3
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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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