ENSG00000164708


Homo sapiens
activityPGAM2mutasephosphoglyceratebisphosphoglyceratehistidinephosphatasesuperfamilygluconeogenesisprocessmuscleresponseglycolysisexerciseactivesiteclade-glycolyticstriatedcontractionnotchsignalingpathwayspermatogenesismetabolicinorganicsubstanceregulationpentose-phosphateshuntmercury

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)
biosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetic processprimary metabolic processsmall molecule metabolic processorganic substance metabolic processnitrogen compound metabolic processcatabolic processcellular metabolic processsystem processcell communicationcellular response to stimulusmulticellular organism reproductionresponse to chemicalsecondary metabolic processoxidation-reduction processbiosynthetbiosynthetic processprimary meprimary metabolic processsmall molesmall molecule metabolic processorganic suorganic substance metabolic processnitrogen cnitrogen compound metabolic processcatabolic catabolic processcellular mcellular metabolic processsystem prosystem processcell commucell communicationcellular rcellular response to stimulusmulticellumulticellular organism reproductionresponse tresponse to chemicalsecondary secondary metabolic processoxidation-oxidation-reduction process
isomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityhydrolase activitycofactor bindingisomerase activityisomerase activityhydrolase activityhydrolase activitycofactor bindingcofactor binding
cellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellorganelleextracellular regioncellcellorganelleorganelleextracellular regionextracellular region
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)
Autosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritanceGenitourinary abnormalityMetabolism abnormalityAbnormality of musculatureConstitutional symptomAutosomal recessive inheritaAutosomal recessive inheritanceGenitourinary abnormalityGenitourinary abnormalityMetabolism abnormalityMetabolism abnormalityAbnormality of musculatureAbnormality of musculatureConstitutional symptomConstitutional symptom
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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