ENSG00000164708


Homo sapiens

Features
Gene ID: ENSG00000164708
  
Biological name :PGAM2
  
Synonyms : P15259 / PGAM2 / phosphoglycerate mutase 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p13
Gene start: 44062727
Gene end: 44065587
  
Corresponding Affymetrix probe sets: 205736_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000297283
NCBI entrez gene - 5224     See in Manteia.
OMIM - 612931
RefSeq - NM_000290
RefSeq Peptide - NP_000281
swissprot - P15259
Ensembl - ENSG00000164708
  
Related genetic diseases (OMIM): 261670 - Glycogen storage disease X, 261670
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pgam2ENSDARG00000057571Danio rerio
 Pgam2ENSMUSG00000020475Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PGAM1 / P18669 / phosphoglycerate mutase 1ENSG0000017131481
PGAM4 / Q8N0Y7 / phosphoglycerate mutase family member 4ENSG0000022678478
BPGM / P07738 / bisphosphoglycerate mutaseENSG0000017233152


Protein motifs (from Interpro)
Interpro ID Name
 IPR001345  Phosphoglycerate/bisphosphoglycerate mutase, active site
 IPR005952  Phosphoglycerate mutase 1
 IPR013078  Histidine phosphatase superfamily, clade-1
 IPR029033  Histidine phosphatase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006094 gluconeogenesis IEA
 biological_processGO:0006096 glycolytic process IMP
 biological_processGO:0006941 striated muscle contraction IMP
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0010035 response to inorganic substance IEA
 biological_processGO:0043456 regulation of pentose-phosphate shunt IBA
 biological_processGO:0046689 response to mercury ion IEA
 biological_processGO:0061621 canonical glycolysis TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004082 bisphosphoglycerate mutase activity IEA
 molecular_functionGO:0004619 phosphoglycerate mutase activity IMP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0016868 intramolecular transferase activity, phosphotransferases IEA
 molecular_functionGO:0046538 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IEA
 molecular_functionGO:0048037 cofactor binding IEA


Pathways (from Reactome)
Pathway description
Glycolysis
Gluconeogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0002913 Myoglobinuria 
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 HP:0003198 Myopathy 
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 HP:0003201 Rhabdomyolysis 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003546 Exercise intolerance 
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 HP:0003710 Muscle cramps with exercise 
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 HP:0003738 Exercise-induced myalgia "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164708 PGAM2 / P15259 / phosphoglycerate mutase 2  / complex






 

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