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PGAM2 Gene

protein-coding   GIFtS: 66
GCID: GC07M044102

Phosphoglycerate Mutase 2 (Muscle)

  See PGAM2-related diseases
at
MalaCards
 

Aliases
for PGAM2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphoglycerate Mutase 2 (Muscle)1 2     GSD102 5
PGAMM2 3 5     Phosphoglycerate Mutase 22
Muscle-Specific Phosphoglycerate Mutase2 3     EC 3.1.3.133
Phosphoglycerate Mutase Isozyme M2 3     EC 5.4.2.113
PGAM-M2 3     EC 5.4.2.43
BPG-Dependent PGAM 22 3     EC 5.4.2.18

External Ids:    HGNC: 88891   Entrez Gene: 52242   Ensembl: ENSG000001647087   OMIM: 6129315   UniProtKB: P152593   

Export aliases for PGAM2 gene to outside databases

Previous GC identifers: GC07M043748 GC07M043809 GC07M043843 GC07M043875 GC07M044069 GC07M043987


Summaries
for PGAM2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PGAM2 Gene:
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to
2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different
tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and
a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle
phosphoglycerate mutase eficiency, also known as glycogen storage disease X. (provided by RefSeq, Sep 2009)

GeneCards Summary for PGAM2 Gene:
PGAM2 (phosphoglycerate mutase 2 (muscle)) is a protein-coding gene. Diseases associated with PGAM2 include phosphoglycerate mutase deficiency, and hereditary neuropathy with liability to pressure palsies. GO annotations related to this gene include bisphosphoglycerate 2-phosphatase activity and cofactor binding. An important paralog of this gene is BPGM.

UniProtKB/Swiss-Prot: PGAM2_HUMAN, P15259
Function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction.
Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced
activity




Genomic Views
for PGAM2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PGAM2 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   E2F-2   NF-kappaB   FAC1   E2F   E2F-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PGAM2 promoter sequence
   Search Chromatin IP Primers for PGAM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PGAM2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p13-p12   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7p13-p12

PGAM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PGAM2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M044102:  view genomic region     (about GC identifiers)

Start:
 44,102,326 bp from pter      End:
 44,105,186 bp from pter
Size:
 2,861 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 44,141,816-44,144,674     

Proteins
for PGAM2 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PGAM2_HUMAN, P15259 (See protein sequence)
Recommended Name: Phosphoglycerate mutase 2  
Size: 253 amino acids; 28766 Da
Subunit: Homodimer

Explore the universe of human proteins at neXtProt for PGAM2: NX_P15259

Explore proteomics data for PGAM2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys100, Lys179, Lys195, Lys241
  • Modification sites at PhosphoSitePlus
    • Selected DME Specific Peptides for PGAM2 (P15259) (see all 6)
     AHGNSLR  SVLKRAI  RAIRTLW  LNERHYG 


    See PGAM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000281.2  
    ENSEMBL proteins: 
     ENSP00000297283  
    Reactome Protein details: P15259

    PGAM2 Human Recombinant Protein Products:

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         		 Search eBioscience for Proteins for PGAM2 

         		antibodies-online proteins for PGAM2 (7 products) 

         		antibodies-online peptides for PGAM2

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    PGAM2 Assay Products:

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    antibodies-online kits for PGAM2 (23 products) 

    Domains /
    Families
    for PGAM2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 3 InterPro protein domains:
     IPR001345 PG/BPGM_mutase_AS
     IPR005952 Phosphogly_mut1
     IPR013078 His_Pase_superF_clade-1

    Graphical View of Domain Structure for InterPro Entry P15259

    ProtoNet protein and cluster: P15259

    1 Blocks protein domain: IPB001345 Phosphoglycerate/bisphosphoglycerate mutase

    UniProtKB/Swiss-Prot: PGAM2_HUMAN, P15259
    Similarity: Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily


    Find genes that share domains with PGAM2           About GenesLikeMe


    Function
    for PGAM2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PGAM2_HUMAN, P15259
    Function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction.
    Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced
    activity
    Catalytic activity: 2-phospho-D-glycerate = 3-phospho-D-glycerate
    Catalytic activity: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
    Catalytic activity: 2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate

         Genatlas biochemistry entry for PGAM2:
    phosphoglycerate mutase 2,muscle,glycolysis,energy pathway

         Enzyme Numbers (IUBMB): EC 5.4.2.41 EC 3.1.3.131 EC 5.4.2.12 EC 5.4.2.111

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004082bisphosphoglycerate mutase activity IEA--
    GO:0004083bisphosphoglycerate 2-phosphatase activity IEA--
    GO:0004619phosphoglycerate mutase activity IMP6262916
    GO:0016868intramolecular transferase activity, phosphotransferases ----
    GO:00465382,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IEA--
         
    Find genes that share ontologies with PGAM2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PGAM2

    miRNA
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    Gene Editing
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    In Situ Assay
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    Localization
    for PGAM2 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    chloroplast1
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with PGAM2           About GenesLikeMe


    Pathways & Interactions
    for PGAM2 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PGAM2 About   (see all 9)  
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)0.58
    		Glycolysis0.39
    		Glycolysis and Gluconeogenesis0.58
    		gluconeogenesis0.38
    		Glycolysis / Gluconeogenesis0.46
    		glycolysis0.00
    2Metabolism
    		Metabolism0.38
    		Metabolic pathways0.38
    3Glucose metabolism
    		Glucose metabolism0.44
    		Gluconeogenesis0.44
    4Carbon metabolism
    		Carbon metabolism0.38
    		Biosynthesis of amino acids0.38
    5MPS VI - Maroteaux-Lamy syndrome
    		Metabolism of carbohydrates0.45


    Find genes that share SuperPaths with PGAM2           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for PGAM2
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Glycolysis and gluconeogenesis (short map)

    5 BioSystems Pathways for PGAM2
        Glycolysis and Gluconeogenesis
    Rapoport-Luebering glycolytic shunt
    glycolysis
    gluconeogenesis
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    2 Reactome Pathways for PGAM2
        Gluconeogenesis
    Glycolysis


    5 Kegg Pathways  (Kegg details for PGAM2):
        Glycolysis / Gluconeogenesis
    Glycine, serine and threonine metabolism
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids

        Pathway & Disease-focused RT2 Profiler PCR Array including PGAM2: 
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PGAM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PGAM2 (P152593 ENSP000002972834) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FNTBP493563, ENSP000002461664I2D: score=4 STRING: ENSP00000246166
    EEF2P136393, ENSP000003079404I2D: score=2 STRING: ENSP00000307940
    GAPDHP044063, ENSP000002292394I2D: score=1 STRING: ENSP00000229239
    PRPF8Q6P2Q93, ENSP000003043504I2D: score=1 STRING: ENSP00000304350
    USP15Q9Y4E83, ENSP000002581234I2D: score=2 STRING: ENSP00000258123
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006096glycolytic process TAS--
    GO:0006941striated muscle contraction IMP6262916

    Find genes that share ontologies with PGAM2           About GenesLikeMe



    Drugs & Compounds
    for PGAM2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for PGAM2

    3 HMDB Compounds for PGAM2    About this table
    CompoundSynonyms CAS #PubMed Ids
    2,3-Diphosphoglyceric acid(2R)-2,3-bis(phosphonooxy)-Propanoic acid (see all 20)138-81-8--
    2-Phospho-D-glyceric acid2-Phospho-D-glycerate (see all 7)----
    2-Phosphoglyceric acid2-(dihydrogen phosphate)Glycerate (see all 16)2553-59-5--

    2 DrugBank Compounds for PGAM2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-Phosphoglyceric Acid-- --target--17139284 17016423 10592235
    Benzene Hexacarboxylic Acid-- 517-60-2target--17139284 17016423 10592235

    1 Novoseek inferred chemical compound relationship for PGAM2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 44.7 3 8082854 (1), 19273759 (1)



    Find genes that share compounds with PGAM2           About GenesLikeMe



    Transcripts
    for PGAM2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PGAM2 gene: 
    NM_000290.3  

    Unigene Cluster for PGAM2:

    Phosphoglycerate mutase 2 (muscle)
    Hs.632642  [show with all ESTs]
    Unigene Representative Sequence: BM553200
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297283(uc003tjs.3)
    miRNA
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    Additional mRNA sequence: 

    BC001904.1 BC073741.1 

    4 DOTS entries:

    DT.96085938  DT.121040996  DT.455819  DT.410016 

    Selected AceView cDNA sequences (see all 62):

    BC001904 F29892 BQ771816 CR618504 F26107 BC073741 NM_000290 BE263723 
    BM697383 AI200819 AJ573082 BM668160 C05250 F36165 F18881 F31842 
    M18172 AI159928 AJ345978 BF340226 F35509 BE264368 C04893 F24672 

    GeneLoc Exon Structure


    Expression
    for PGAM2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PGAM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGCTGTGG
    PGAM2 Expression
    About this image


    PGAM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
    PGAM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    PGAM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632642

    UniProtKB/Swiss-Prot: PGAM2_HUMAN, P15259
    Tissue specificity: In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in
    muscles and type-B in other tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including PGAM2: 
              Glucose Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for PGAM2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PGAM2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pgam21 , 5 phosphoglycerate mutase 21, 5 86.3(n)1
    92.09(a)1    		   11 (3.87 cM)5
    560121  NM_018870.31  NP_061358.11 
     58016405 
    lizard
    (Anolis carolinensis)    		 Reptilia PGAM26
    		 phosphoglycerate mutase 2 (muscle)
    		 90(a)
    		 1 ↔ 1
    		 GL343238.1(646851-651663)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC043842.12   -- 79.03(n)    BC043842.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pgam21 phosphoglycerate mutase 2 (muscle) 76.46(n)
    86.51(a)    		   572733  NM_201024.1  NP_957318.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Pglym783
    Pglym871    		 phosphoglycerate mutase3
    Pglym871    		 67(a)
    (best of 3)3
    69.47(n)1
    68.8(a)1    		   462461  NM_143784.31  NP_652041.21 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes GPM1(YKL152C)4
    GPM11    		 Tetrameric phosphoglycerate mutase, mediates the conversion of 3-phosphoglycerate to 2-phosphoglycerate during glycolysis and the reverse reaction during gluconeogenesis less4
    GPM11    		 50.82(n)1
    52.87(a)1    		   11(164385-163642)4
    8537051, 4  NP_012770.11, 4 


    ENSEMBL Gene Tree for PGAM2 (if available)
    TreeFam Gene Tree for PGAM2 (if available)

    Paralogs
    for PGAM2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PGAM2 gene
    BPGM2  PGAM12  PGAM42  
    3 SIMAP similar genes for PGAM2 using alignment to 2 protein entries:     PGAM2_HUMAN (see all proteins):
    PGAM1    PGAM4    BPGM

    Find genes that share paralogs with PGAM2           About GenesLikeMe



    Genomic Variants
    for PGAM2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PGAM2 (see all 168)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0060884
    		Glycogen storage disease 10 (GSD10)4--see VAR_0060882 E A mis40--------
    VAR_0060894
    		Glycogen storage disease 10 (GSD10)4--see VAR_0060892 R W mis40--------
    VAR_0131034
    		Glycogen storage disease 10 (GSD10)4--see VAR_0131032 G D mis40--------
    rs779387271,2
    		Cpathogenic144080113(+) TGAGGC/TCTGTG 2 D G mis10--------
    rs1048940341,2
    		Cpathogenic144080135(-) ATGAGC/TGGCAT 2 R W mis10--------
    rs1048940301,2
    		Cpathogenic144080137(-) CAATGA/CGCGGC 2 E A mis11Minor allele frequency- C:0.00EU 1323
    rs102507791,2
    		C,F,Hpathogenic144080170(-) GATGTG/AGCTGC 2 /* /W stg1 ese37Minor allele frequency- A:0.00NS EA NA 4974
    rs754953291,2
    		C,F--44077108(+) AACTTC/GCCCTC 1 -- ds50011Minor allele frequency- G:0.07EA 120
    rs117628811,2
    		C,H--44077124(+) CCATGG/TAAGAC 1 -- ds50017Minor allele frequency- T:0.00NS EA NA 604
    rs1480158041,2
    		--44077213(+) CACCCA/GGGGGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PGAM2 (44102326 - 44105186 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PGAM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv887996CNV Loss21882294
    nsv470210CNV Loss18288195
    nsv830980CNV Loss17160897
    nsv428165CNV Gain18775914
    nsv8082CNV Gain18304495

    Human Gene Mutation Database (HGMD): PGAM2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PGAM2
    DNA2.0 Custom Variant and Variant Library Synthesis for PGAM2

    Disorders / Diseases
    for PGAM2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 612931   
    OMIM disorders: 261670  
    UniProtKB/Swiss-Prot: PGAM2_HUMAN, P15259
  • Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria,
    increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle
    cramps, exercise intolerance. Note=The disease is caused by mutations affecting the gene represented in this
    entry

    • 2 diseases for PGAM2:    
    About MalaCards
    phosphoglycerate mutase deficiency    hereditary neuropathy with liability to pressure palsies

    1 inferred disease relationship from the University of Copenhagen DISEASES database for PGAM2:
    Glycogen storage disease

    Find genes that share disorders with PGAM2           About GenesLikeMe

    1 Novoseek inferred disease relationship for PGAM2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathy 63.9 5 8082854 (2), 10545043 (1), 16157752 (1)

    Genatlas disease: PGAM2
    myopathy, exercise-related


    Export disorders for PGAM2 gene to outside databases

    Publications
    for PGAM2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PGAM2 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PGAM2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. (PubMed id 10545043)1, 2, 9 Hadjigeorgiou G.M.... DiMauro S. (Neuromuscul. Disord. 1999)
    2. Isolation and characterization of the gene encoding the muscle- specific isozyme of human phosphoglycerate mutase. (PubMed id 2145198)1, 2, 9 Castella-Escola J.... Cohen-Solal M. (Gene 1990)
    3. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PubMed id 8447317)1, 2, 9 Tsujino S.... Dimauro S. (Am. J. Hum. Genet. 1993)
    4. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. (PubMed id 2549058)1, 2 Tsujino S.... Schon E.A. (J. Biol. Chem. 1989)
    7. Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. (PubMed id 2822696)1, 2 Shanske S.... Schon E.A. (J. Biol. Chem. 1987)
    8. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. (PubMed id 2153628)1, 9 Castella-Escola J....Cohen-Solal M. (Hum. Genet. 1990)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    External Searches for PGAM2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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    Genome Databases showing PGAM2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5224 HGNC: 8889 AceView: PGAM2 Ensembl:ENSG00000164708 euGenes: HUgn5224
    ECgene: PGAM2 Kegg: 5224 H-InvDB: PGAM2

    Other Databases showing PGAM2 gene

    (According to HUGE)
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    TryGeneCards Plus    		   --

    Specialized Databases showing PGAM2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PGAM2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PGAM2[genesymbol]

    Intellectual Property
    for PGAM2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for PGAM2 gene:
    Search GeneIP for patents involving PGAM2

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