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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PYGM Gene

protein-coding   GIFtS: 72
GCID: GC11M064513

phosphorylase, glycogen, muscle

(Previous names: phosphorylase, glycogen; muscle )
 Explore 38 diseases affiliated with
PYGM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PYGM    

Aliases
for PYGM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphorylase, Glycogen, Muscle1 2
EC 2.4.1.13 8
Phosphorylase, Glycogen; Muscle1
Glycogen Phosphorylase, Muscle Form2
Myophosphorylase3
Myophosphorylase3

External Ids:    HGNC: 97261   Entrez Gene: 58372   Ensembl: ENSG000000689767   OMIM: 6084555   UniProtKB: P112173   

Export aliases for PYGM gene to outside databases

Previous GC identifers: GC11M067029 GC11M066195 GC11M064763 GC11M064289 GC11M064272 GC11M060840


Summaries
for PYGM 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 PYGM:
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are
found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a
glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.(provided by RefSeq,
Sep 2009)

UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources
differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share
catalytic and structural properties




Genomic Views
for PYGM 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PYGM gene promoter:
         NF-1   Pax-5   GATA-2   YY1   AREB6   CREB   Ik-2   deltaCREB   Sox9   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PYGM promoter sequence
   Search SABiosciences Chromatin IP Primers for PYGM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PYGM


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

Entrez Gene cytogenetic band: 11q12-q13.2   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q12-q13.2

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064513:  view genomic region     (about GC identifiers)

Start:
 64,513,861 bp from pter      End:
 64,528,187 bp from pter
Size:
 14,327 bases      Orientation:
 minus strand

Proteins
for PYGM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217 (See protein sequence)
Recommended Name: Glycogen phosphorylase, muscle form  
Size: 842 amino acids; 97092 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A
1 PDB 3D structure from and Proteopedia for PYGM:
1Z8D (3D)    
Secondary accessions: A0AVK1 A6NDY6
Alternative splicing: 2 isoforms:  P11217-1   P11217-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PYGM: NX_P11217

Post-translational modifications:

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11217

    • 4/49 DME Specific Peptides for PYGM (P11217) (see all 49)
     DLSEQIS  DTQVVLA  KQISVRG  TLYNRIK 

    PYGM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001158188.1  NP_005600.1  

    ENSEMBL proteins: 
     ENSP00000366650   ENSP00000164139  
    Reactome Protein details: P11217
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for PYGM
    Uscn Proteins for PYGM

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0016529sarcoplasmic reticulum ----


    PYGM for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PYGM

    Protein Domains /
    Families
    for PYGM gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PYGM for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011833 Glycg_phsphrylas
     IPR000811 Glyco_trans_35

    Graphical View of Domain Structure for InterPro Entry P11217

    ProtoNet protein and cluster: P11217

    1 Blocks protein family: IPB000811 Glycosyl transferase

    UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
    Similarity: Belongs to the glycogen phosphorylase family


    Function
    for PYGM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
    Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources
    differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share
    catalytic and structural properties
    Catalytic activity: (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate
    Enzyme regulation: Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of
    metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and
    glucose-6-phosphate allosterically inhibit, phosphorylase B

         Genatlas biochemistry entry for PYGM:
    phosphorylase,glycogen catabolism,muscle

    Enzyme Number (IUBMB): EC 2.4.1.11 2

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for PYGM

    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0008144drug binding ----
    GO:0008184glycogen phosphorylase activity IEA--
    GO:0016208AMP binding ----
    GO:0030170pyridoxal phosphate binding IEA--


    PYGM for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PYGM:
     Wnt reporter downregulated 


    Pathways & Interactions
    for PYGM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Galactose metabolism
    		Galactose metabolism1.00
    		Glycogen metabolism0.40
    		Galactose metabolism0.95
    		Glycogen metabolism0.40
    2Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    3Glycogen breakdown (glycogenolysis)
    		Glycogen breakdown (glycogenolysis)1.00
    		Glycogen Metabolism0.35
    4PKA activation in glucagon signalling
    		Development Beta-adrenergic receptors signaling via cAMP0.29
    		Development_Beta-adrenergic receptors signaling via cAMP0.29
    5Glucose metabolism
    		Glucose metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for PYGM
        Development Beta-adrenergic receptors signaling via cAMP
    Glycogen metabolism
    Galactose metabolism

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PYGM
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    3 GeneGo (Thomson Reuters) Pathways for PYGM
        Development Beta-adrenergic receptors signaling via cAMP
    Galactose metabolism
    Glycogen metabolism

    1 BioSystems Pathway for PYGM 
        Glycogen Metabolism

    4        Reactome Pathways for PYGM
        Metabolism of carbohydrates
    Glycogen breakdown (glycogenolysis)
    Metabolism
    Glucose metabolism


    2         Kegg Pathways  (Kegg details for PYGM):
        Starch and sucrose metabolism
    Insulin signaling pathway


    PYGM for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/27 Interacting proteins for PYGM (P112172, 3 ENSP000001641394) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48500 I2D: score=2 
    PACSIN3Q9UKS63, ENSP000002988384I2D: score=2 STRING: ENSP00000298838
    S100A1P232973, ENSP000002921694I2D: score=2 STRING: ENSP00000292169
    TRIM63Q969Q13, ENSP000003633904I2D: score=2 STRING: ENSP00000363390
    INPP5KQ9BT403, ENSP000002547124I2D: score=1 STRING: ENSP00000254712
    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:0001666response to hypoxia ----
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process TAS9633816
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--


    PYGM for ontologies           About GeneDecksing



    Drugs & Compounds
    for PYGM gene

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

    PYGM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PYGM available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CP 316819Selective glycogen phosphorylase inhibitor[186392-43-8]

    8 HMDB Compounds for PYGM    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    Gluconolactone1,5-Gluconolactone (see all 35)90-80-2--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    10/50 DrugBank Compounds for PYGM (see all 50)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor11052666 12217700 11228757 12460107 11508701
    (3,4,5-Trihydroxy-6-Hydroxymethyl-Tetrahydro-Pyran-2-Yl)-Phosphoramidic Acid Dimethyl Ester-- --target--17139284 17016423 10592235
    1-Deoxy-1-Acetylamino-Beta-D-Gluco-2-Heptulopyranosonamide-- --target--17139284 17016423 10592235
    1-Deoxy-1-Methoxycarbamido-Beta-D-Gluco-2-Heptulopyranosonamide-- --target--17139284 17016423 10592235
    1-Deoxy-1-Methoxycarbamido-Beta-D-Glucopyranose-- --target--17139284 17016423 10592235
    1-N-Acetyl-Beta-D-Glucosamine-- --target--17139284 17016423 10592235
    2,3-Dicarboxy-4-(2-Chloro-Phenyl)-1-Ethyl-5-Isopropoxycarbonyl-6-Methyl-Pyridinium-- --target--17139284 17016423 10592235
    2-(Beta-D-Glucopyranosyl)-5-Methyl-1,2,3-Benzimidazole-- --target--17139284 17016423 10592235
    2-(Beta-D-Glucopyranosyl)-5-Methyl-1,3,4-Oxadiazole-- --target--17139284 17016423 10592235
    2-Deoxy-Glucose-6-Phosphate-- --target--17139284 17016423 10592235

    10/13 Novoseek chemical compound relationships for PYGM gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 84.7 109 9502427 (2), 19878922 (2), 8779956 (2), 8576226 (2) (see all 74)
    galactose-1-phosphate 52.3 2 2364636 (1), 16691548 (1)
    phosphocreatine 49.6 1 8457430 (1)
    lactate 43.9 10 2364636 (1), 16924035 (1), 12640006 (1), 8983689 (1) (see all 8)
    creatinine 39.2 4 10891977 (2), 10438462 (1), 10716777 (1)
    pyruvate 34.2 4 10438462 (1), 12223025 (1), 7998768 (1)
    glucose 30 15 8576226 (2), 8889763 (2), 12223025 (2), 9502427 (1) (see all 11)
    carnitine 28.5 3 19240776 (1), 10924019 (1)
    arginine 10.1 2 8845714 (1), 10590419 (1)
    caffeine 4.86 2 9688698 (1)

    Search CenterWatch for drugs/clinical trials and news about PYGM 

    Transcripts
    for PYGM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for PYGM gene (2 alternative transcripts): 
    NM_001164716.1  NM_005609.2  

    Unigene Cluster for PYGM:

    Phosphorylase, glycogen, muscle
    Hs.154084  [show with all ESTs]
    Unigene Representative Sequence: NM_005609
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483742 ENST00000377432 ENST00000164139(uc001oax.4 uc001oay.4)
    ENST00000462303 ENST00000460413

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF066859.1 AK056607.1 AK057547.1 AK299376.1 AK299461.1 AK314474.1 BC029305.1 BC126392.1 
    BC130514.1 M16013.1 X03031.1 

    12 DOTS entries:

    DT.95076615  DT.97801128  DT.417914  DT.120719837  DT.100782115  DT.97807894  DT.92421659  DT.100807061 
    DT.92421671  DT.120719831  DT.120719833  DT.120719835 

    24/197 AceView cDNA sequences (see all 197):

    BM142683 BM988716 F25922 BM987822 BQ689227 H44484 AF066859 F30404 
    BQ359249 BI759873 F31059 F16457 BM544072 AI675818 F18914 BM728956 
    F27657 F28742 F34666 AA100564 F18656 BQ685577 F34675 AI810931 

    GeneLoc Exon Structure


    Expression
    for PYGM 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

    PYGM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGAGGGTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PYGM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.154084
        SABiosciences Expression via Pathway-Focused PCR Array including PYGM: 
              Glucose Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for PYGM 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 last universal common ancestor (LUCA).

    Orthologs for PYGM gene from 7/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia PYGM6
    		 --
    		 83(a)
    		 1 ↔ 1
    		 GL344430.1(10391-35366)
    zebrafish
    (Danio rerio)    		 Actinopterygii pygma1 phosphorylase, glycogen (muscle) A 76.11(n)
    85(a)    		   553655  NM_001020628.1  NP_001018464.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta GlyP1 , 3 carbohydrate metabolism phosphorylase3
    Glycogen phosphorylase1    		 73(a)3
    71.79(n)1
    73.45(a)1    		   333861  NM_164453.31  NP_722762.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea T22F3.31 Protein T22F3.3 67.62(n)
    69.46(a)    		   178777  NM_071606.3  NP_504007.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PHS21 alpha-glucan phosphorylase isozyme H 51.84(n)
    48.7(a)    		   823850  NM_114564.2  NP_190281.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g08517001 hypothetical protein 52.67(n)
    49.87(a)    		   4324810  NM_001051358.1  NP_001044823.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria glgP6
    malP6
    		 maltodextrin phosphorylase
    		 48(a)
    43(a)
    		 possible ortholog
    possible ortholog
    		 Chromosome(3562157-3564604) b3428
    Chromosome(3548102-3550495) b3417


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

    Paralogs
    for PYGM gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PYGM gene
    PYGL2  PYGB2  
    2 SIMAP similar genes for PYGM using alignment to 1 protein entry:     PYGM_HUMAN:
    PYGB    PYGL

    PYGM for paralogs           About GeneDecksing



    Genomic Variants
    for PYGM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/356 NCBI SNPs in PYGM are shown (see all 356)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2676069931,2
    		Cpathogenic69951553(-) CAGCCA/C/GTGTCC 1 -- int10--------
    rs1169875521,2
    		C,F,pathogenic69951700(+) GTCTCG/ATGGGG 1 -- int13Minor allele frequency- A:0.00NA EU 5991
    rs1191032511,2
    		C,pathogenic69953700(-) TCTACG/AGCCAT 1 -- int11Minor allele frequency- A:0.00EU 1323
    rs1440818691,2
    		Cpathogenic69961029(+) AGCCCC/TGTTGA 1 -- int11Minor allele frequency- T:0.00NA 4552
    rs122236951,2
    		C--60840690(+) CCCCAT/CAAATA 2 -- us2k1 int1 ese31Minor allele frequency- C:0.00NA 2
    rs715264801,2
    		C,--60842332(+) CACCAC/TGGCTC 1 -- int10--------
    rs5666531,2
    		C,F,H,--60842391(+) CCAGCG/ACTCCC 1 -- int15Minor allele frequency- A:0.01NS NA EA 532
    rs5505451,2
    		H--60842666(+) GCCAAC/TTCTGG 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs283988961,2
    		C,--60843077(+) CTTGAG/AGTCAG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs6082611,2
    		--60844087(-) actgcG/Actcca 1 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for PYGM (64513861 - 64528187 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PYGM
         3 CNVs: 4753 53146 9667
    Human Gene Mutation Database (HGMD): PYGM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PYGM
    DNA2.0 Custom Variant and Variant Library Synthesis for PYGM

    Disorders / Diseases
    for PYGM 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
    PYGM for disorders           About GeneDecksing

    OMIM gene information: 608455   
    OMIM disorders: 232600  
    UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
  • Defects in PYGM are the cause of glycogen storage disease type 5 (GSD5) [MIM:232600]; also known as McArdle
    • disease. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle
    weakness and recurrent myoglobinuria

    20/38 diseases for PYGM (see all 38):    About MalaCards
    glycogen storage disease    limb-girdle muscular dystrophy    myoglobinuria recurrent    phosphoglycerate kinase deficiency
    glycogen storage disease v    sudden infant death syndrome    multiple endocrine neoplasia    vitelliform macular dystrophy
    oculopharyngeal muscular dystrophy    muscle glycogenosis    muscular dystrophy    macular dystrophy
    acute insulin response    insulin resistance    metabolic disorders    wermer syndrome
    pancreatic ductal adenocarcinoma    myopathy    cramps    acromegaly

    3 diseases from the University of Copenhagen DISEASES database for PYGM:
    Glycogen storage disease     Wermer syndrome     Myopathy

    10/23 Novoseek disease relationships for PYGM gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mcardles disease 99.1 273 9506549 (5), 15045049 (5), 16924035 (4), 8845714 (4) (see all 99)
    phosphofructokinase deficiency 88.3 10 7998768 (2), 10809925 (1), 1834009 (1), 15938748 (1) (see all 6)
    myoglobinuria, recurrent 83.7 3 12666117 (1), 8316268 (1), 8845714 (1)
    myopathy 80.5 16 8467839 (1), 9470186 (1), 10658172 (1), 15626311 (1) (see all 16)
    glycogen storage disease 77.9 8 12522938 (1), 15626311 (1), 17876739 (1), 9847997 (1) (see all 8)
    multiple endocrine neoplasia type 1 67.3 5 9272177 (1), 9341881 (1), 7906100 (1), 9150722 (1)
    rhabdomyolysis 66.8 2 19240776 (1), 16718692 (1)
    enzyme deficiency 59.3 1 9847997 (1)
    mitochondrial myopathies 58.8 2 9541495 (1), 17143893 (1)
    cytochrome c oxidase deficiency 50.8 1 7998768 (1)

    GeneTests: PYGM
    Glycogen Storage Disease Type V

    Genetic Association Database (GAD): PYGM
    Human Genome Epidemiology (HuGE) Navigator: PYGM (3 documents)

    Export disorders for PYGM gene to outside databases

    Publications
    for PYGM 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 PYGM gene, integrated from 9 sources (see all 223):
    (articles sorted by number of sources associating them with PYGM)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation analysis in myophosphorylase deficiency (McArdle's disease). (PubMed id 9506549)1, 2, 9 Vorgerd M....Kilimann M.W. (1998)
    2. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. (PubMed id 10590419)1, 2, 9 Rubio J.C....Arenas J. (2000)
    3. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). (PubMed id 8316268)1, 2, 9 Tsujino S.... Dimauro S. (1993)
    4. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. (PubMed id 11706962)1, 2, 9 Martin M.A.... Arenas J. (2001)
    5. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). (PubMed id 7603523)1, 2, 9 Tsujino S.... DiMauro S. (1995)
    6. Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). (PubMed id 8535454)1, 2, 9 Tsujino S....Dimauro S. (1995)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. (PubMed id 12031624)1, 2 Bruno C.... Santoro L. (2002)
    10. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. (PubMed id 10899452)1, 2 Martin M.A.... Arenas J. (2000)

    External Searches for PYGM gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PYGM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5837 HGNC: 9726 AceView: PYGM Ensembl:ENSG00000068976 euGenes: HUgn5837
    ECgene: PYGM Kegg: 5837 H-InvDB: PYGM

    Other Databases showing PYGM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PYGM 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 PYGM Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGM

    Intellectual Property
    for PYGM gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PYGM gene:
    Search GeneIP for patents involving PYGM

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



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