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GIFtS

PGAM2 Gene

protein-coding   GIFtS: 66
GCID: GC07M044102

Phosphoglycerate Mutase 2 (Muscle)
Microbiology & Infectious Diseases Congress
  11 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)
About This Section
Aliases
Phosphoglycerate Mutase 2 (Muscle)1 2     EC 5.4.2.13 8
PGAMM2 3 5     GSD102 5
Muscle-Specific Phosphoglycerate Mutase2 3     Phosphoglycerate Mutase 22
Phosphoglycerate Mutase Isozyme M2 3     EC 3.1.3.133
PGAM-M2 3     EC 5.4.2.43
BPG-Dependent PGAM 22 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 palsy, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PGAM2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15259

    • 4/6 DME Specific Peptides for PGAM2 (P15259) (see all 6)
     AHGNSLR  SVLKRAI  RAIRTLW  LNERHYG 

    PGAM2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PGAM2 Protein Expression
    REFSEQ proteins: NP_000281.2  
    ENSEMBL proteins: 
     ENSP00000297283  
    Reactome Protein details: P15259
    Human Recombinant Protein Products for PGAM2: 
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    Novus Biologicals PGAM2 Proteins
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    ProSpec Recombinant Protein for PGAM2
    Cloud-Clone Corp. Proteins for PGAM2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    PGAM2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PGAM2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    PGAM2 for domains           About GeneDecksing


    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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 5.4.2.11 2 EC 5.4.2.41 EC 3.1.3.131

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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--
         
    PGAM2 for ontologies           About GeneDecksing


    Animal Models:
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for PGAM2 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PGAM2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)0.60
    		Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis / Gluconeogenesis0.46
    		glycolysis0.50
    		gluconeogenesis0.39
    2Metabolism
    		Metabolism0.40
    		Metabolic pathways0.40
    3Glucose metabolism
    		Glucose metabolism0.50
    		Glycolysis0.44
    		Gluconeogenesis0.50
    4Carbon metabolism
    		Carbon metabolism0.37
    		Biosynthesis of amino acids0.37
    5MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


    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
    gluconeogenesis
    glycolysis
    Conversion of glucose to acetyl CoA and entry into the TCA cycle


    5        Reactome Pathways for PGAM2
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycolysis


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


    PGAM2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PGAM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/56 Interacting proteins for PGAM2 (P152593 ENSP000002972834) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENO3P139293, ENSP000003241054I2D: score=1 STRING: ENSP00000324105
    PGK1P005583, ENSP000003624134I2D: score=1 STRING: ENSP00000362413
    USP15Q9Y4E83, ENSP000002581234I2D: score=2 STRING: ENSP00000258123
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    MYO1EQ129653I2D: score=5 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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:0006096glycolysis TAS--
    GO:0006941striated muscle contraction IMP6262916

    PGAM2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PGAM2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PGAM2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about PGAM2

    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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    BC001904.1 BC073741.1 

    4 DOTS entries:

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

    24/62 AceView cDNA sequences (see all 62):

    NM_000290 BQ771816 F29892 AJ573082 BM668160 F26107 CR618504 BC073741 
    BC001904 AI200819 BM697383 BE263723 BF340226 C05250 AJ345978 F36911 
    AJ346434 T28690 BE264368 M18172 F31842 F36165 BM553200 AI159928 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PGAM2 expression in normal human tissues (normalized intensities)      PGAM2 embryonic expression: see
    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 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Interzone Cells Stylopod Synovial Joint
             Rostral Chondrocranium
             skeleton
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
             limb/hindlimb
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
             heart/atrium
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon

    See PGAM2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PGAM2

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PGAM2 gene from 6/16 species (see all 16)    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
    		 Uncharacterized protein
    		 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
    CG17645-PA1    		 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
    Gpm1p1    		 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)
    About This Section
    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

    PGAM2 for paralogs           About GeneDecksing



    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/168 SNPs in PGAM2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PGAM2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PGAM2 for disorders           About GeneDecksing

    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

    11 diseases for PGAM2:    About MalaCards
    phosphoglycerate mutase deficiency    hereditary neuropathy with liability to pressure palsy    hereditary neuropathy with liability to pressure palsies    hereditary neuropathies
    greig cephalopolysyndactyly syndrome    glycogen storage disease    neuropathy    myopathy
    metabolic disorders    pneumonia    tuberculosis

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

    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)
    About This Section

    PubMed articles for PGAM2 gene, integrated from 9 sources (see all 36):
    (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. (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. (1990)
    3. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PubMed id 8447317)1, 2, 9 Tsujino S.... Dimauro S. (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. (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. (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. (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. (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. (1990)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (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. (2012)

    External Searches for PGAM2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing PGAM2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    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)
    About This Section
    		   --

    Specialized Databases showing PGAM2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PGAM2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PGAM2

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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