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PYGB Gene

protein-coding   GIFtS: 68
GCID: GC20P025228

Phosphorylase, Glycogen; Brain

  See related diseases
at  

(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
Phosphorylase, Glycogen; Brain1 2     GPBB2
EC 2.4.1.13 8     Glycogen Phosphorylase B2
Brain Form1     Glycogen Phosphorylase, Brain Form2
Glycogen Phosphorylase1     

External Ids:    HGNC: 97231   Entrez Gene: 58342   Ensembl: ENSG000001009947   OMIM: 1385505   UniProtKB: P112163   

Export aliases for PYGB gene to outside databases

Previous GC identifers: GC20P025216 GC20P025223 GC20P025176 GC20P025186


(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 PYGB Gene:
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein
forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase.
The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and
glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PYGB Gene:
PYGB (phosphorylase, glycogen; brain) is a protein-coding gene. Diseases associated with PYGB include glycogen storage disease v, and glycogen storage disease. GO annotations related to this gene include glycogen phosphorylase activity and pyridoxal phosphate binding. An important paralog of this gene is PYGL.

UniProtKB/Swiss-Prot: PYGB_HUMAN, P11216
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




(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:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PYGB gene promoter:
         CREB   POU2F1   POU2F1a   NRSF form 1   deltaCREB   SEF-1 (1)   NRSF form 2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPYGB promoter sequence
   Search Chromatin IP Primers for PYGB

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


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

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.21

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P025228:  view genomic region     (about GC identifiers)

Start:
25,228,705 bp from pter      End:
25,278,650 bp from pter
Size:
49,946 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PYGB_HUMAN, P11216 (See protein sequence)
Recommended Name: Glycogen phosphorylase, brain form  
Size: 843 amino acids; 96696 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A
Secondary accessions: Q96AK1 Q9NPX8

Explore the universe of human proteins at neXtProt for PYGB: NX_P11216

Explore proteomics data for PYGB at MOPED

Post-translational modifications: 

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A1
  • Ubiquitination2 at Lys371, Lys483, Lys521
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PYGB (P11216) (see all 43)
     DTQVVLA  KQISVRG  TLYNRIK  IPELMRI 


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

    REFSEQ proteins: NP_002853.2  
    ENSEMBL proteins: 
     ENSP00000216962   ENSP00000395451  
    Reactome Protein details: P11216

    PYGB Human Recombinant Protein Products:

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    PYGB Antibody Products:

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    PYGB Assay Products:

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    Cloud-Clone Corp. CLIAs for PYGB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PYG: Glycogen phosphorylases

    2 InterPro protein domains:
     IPR011833 Glycg_phsphrylas
     IPR000811 Glyco_trans_35

    Graphical View of Domain Structure for InterPro Entry P11216

    ProtoNet protein and cluster: P11216

    1 Blocks protein domain: IPB000811 Glycosyl transferase

    UniProtKB/Swiss-Prot: PYGB_HUMAN, P11216
    Similarity: Belongs to the glycogen phosphorylase family


    PYGB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PYGB_HUMAN, P11216
    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 non-covalent
    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 PYGB:
    phosphorylase,glycogen catabolism,brain

         Enzyme Number (IUBMB): EC 2.4.1.11 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004645phosphorylase activity ----
    GO:0008184glycogen phosphorylase activity NAS3346228
    GO:0030170pyridoxal phosphate binding IEA--
         
    PYGB for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PYGB
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PYGB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PYGB

    miRNA
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    miRTarBase miRNAs that target PYGB:
    hsa-mir-34a-5p (MIRT025360), hsa-mir-20a-5p (MIRT050597), hsa-mir-484 (MIRT042171), hsa-mir-335-5p (MIRT017293), hsa-mir-1 (MIRT023564), hsa-mir-16-5p (MIRT031538), hsa-mir-744-5p (MIRT037640)

    Block miRNA regulation of human, mouse, rat PYGB using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PYGB:
    hsa-miR-342-3p hsa-miR-338-3p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidPYGB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PYGB
    Predesigned siRNA for gene silencing in human, mouse, rat PYGB

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: PYGB (NM_002862)
    Sino Biological Human cDNA Clone for PYGB
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PYGB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PYGB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYGB


    (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
    cytosol3
    chloroplast2
    cytoskeleton2
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    nucleus2
    plasma membrane2
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10638593

    PYGB for ontologies           About GeneDecksing


    (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 PYGB About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Starch and sucrose metabolism0.41
    Glycogen metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 GeneGo (Thomson Reuters) Pathways for PYGB
        Galactose metabolism
    Glycogen metabolism

    1 BioSystems Pathway for PYGB
        Glycogen Metabolism


    1 Reactome Pathway for PYGB
        Glycogen breakdown (glycogenolysis)


    3 Kegg Pathways  (Kegg details for PYGB):
        Starch and sucrose metabolism
    Metabolic pathways
    Insulin signaling pathway


    PYGB for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PYGB
    Interactions:

        Search GeneGlobe Interaction Network for PYGB

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

    Selected Interacting proteins for PYGB (P112163 ENSP000002169624) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406923, ENSP000002317904I2D: score=1 STRING: ENSP00000231790
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACTN1P128143, ENSP000003779414I2D: score=2 STRING: ENSP00000377941
    APCP250543I2D: score=2 
    ACSL1P331213I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    PYGB for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PYGB

    9 HMDB Compounds for PYGB    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--
    GlycogenAnimal starch (see all 5)9005-79-2--
    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--

    1 DrugBank Compound for PYGB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423

    Selected Novoseek inferred chemical compound relationships for PYGB gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    1-glcnac 94.2 2 16616506 (1)
    heptulose-2-p 92.3 1 7987213 (1)
    glycogen 87.9 104 7744850 (5), 1459992 (4), 9583890 (3), 9792273 (2) (see all 72)
    galactose-1-phosphate 77.5 3 15299833 (1), 8948464 (1), 7987213 (1)
    pyridoxal 5-phosphate 68.7 5 8457673 (1), 8503849 (1), 8025540 (1)
    thermolysin 64.4 4 11784144 (1), 15481990 (1), 12213058 (1), 19994892 (1)
    pyranose 57.6 1 9568898 (1)
    hydrogen 42.6 1 9711498 (1)
    glucose 35.4 7 15299833 (1), 11886794 (1), 8057302 (1), 8180201 (1) (see all 6)
    glucose 6-phosphate 31.4 1 8331662 (1)



    PYGB for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PYGB gene: 
    NM_002862.3  

    Unigene Cluster for PYGB:

    Phosphorylase, glycogen; brain
    Hs.368157  [show with all ESTs]
    Unigene Representative Sequence: BC017045
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216962(uc002wup.3) ENST00000428458 ENST00000471359
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate PYGB:
    hsa-miR-342-3p hsa-miR-338-3p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidPYGB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PYGB
    Clone
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PYGB
      QuantiFast Probe-based Assays in human, mouse, rat PYGB

    Additional mRNA sequence: 

    AB209080.1 AF432222.1 AK299697.1 AK309036.1 BC017045.2 BC030795.2 BC113105.1 BC113106.1 
    BC128043.1 J03544.1 U47025.1 Z36853.1 

    Selected DOTS entries (see all 28):

    DT.100815386  DT.450117  DT.100815395  DT.100747245  DT.120832388  DT.100815382  DT.120832288  DT.100810220 
    DT.120832377  DT.100815393  DT.91744532  DT.91763628  DT.100815389  DT.450116  DT.91936184  DT.92345604 
    DT.95102231  DT.100697009  DT.100699697  DT.100747248  DT.100815397  DT.120832340  DT.91922003  DT.95105546 

    Selected AceView cDNA sequences (see all 555):

    BM021383 BQ640368 BU182767 BU178554 BM697773 CD743231 BM784716 BQ003847 
    AI571841 BM669629 AF432222 AA417977 AA354342 AI868699 BU528179 AI420362 
    BU165660 BQ683320 H72006 BM700321 BM782289 BM477683 AW105234 CR609882 

    GeneLoc Exon Structure


    (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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    PYGB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGATCTGG
    PYGB Expression
    About this image


    PYGB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Heart (Cardiovascular System)
     
     Colon (Gastrointestinal Tract)
     
     Esophagus (Gastrointestinal Tract)
    PYGB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PYGB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368157
        Custom PCR Arrays for PYGB
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PYGB
    OriGene qSTAR qPCR primer pairs in human, mouse for PYGB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PYGB
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    QuantiFast Probe-based Assays in human, mouse, rat PYGB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYGB

    (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 PYGB gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pygb1 , 5 brain glycogen phosphorylase1, 5 88.61(n)1
    95.61(a)1
      2 (74.74 cM)5
    1100781  NM_153781.11  NP_722476.11 
     1507867355 
    chicken
    (Gallus gallus)
    Aves PYGB1 phosphorylase, glycogen; brain 82.68(n)
    90.98(a)
      421248  NM_001031034.1  NP_001026205.1 
    lizard
    (Anolis carolinensis)
    Reptilia PYGB6
    phosphorylase, glycogen; brain
    89(a)
    1 ↔ 1
    1(254332354-254357317)
    African clawed frog
    (Xenopus laevis)
    Amphibia pygm-prov2 phosphorylase, glycogen; brain 80.49(n)    BC047245.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055233.12   -- 78.27(n)    BC055233.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GlyP3 carbohydrate metabolism phosphorylase 72(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T22F3.36
    Protein T22F3.3, isoform b (T22F3.3) mRNA, complet...
    64(a)
    1 → many
    V(3579047-3585045) WBGene00020696
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPH16
    Non-essential glycogen phosphorylase required for ...
    45(a)
    1 → many
    XVI(861306-864014) YPR160W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PYGB gene
    PYGL2  PYGM2  
    2 SIMAP similar genes for PYGB using alignment to 2 protein entries:     PYGB_HUMAN (see all proteins):
    PYGM    PYGL

    PYGB for paralogs           About GeneDecksing



    (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 PYGB (see all 1594)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs741736711,2
    C,F--25226899(+) CACACC/TTTCCT 1 -- us2k13Minor allele frequency- T:0.04NA 124
    rs1401914701,2
    --25226971(+) GCACAC/GATACA 1 -- us2k10--------
    rs781570861,2
    F--25227049(+) TGTGTG/CGGCTT 1 -- us2k11Minor allele frequency- C:0.16WA 118
    rs1438631701,2
    --25227076(+) CTCTGG/TGGCTC 1 -- us2k10--------
    rs60504831,2
    C,H--25227084(+) ctcacC/Tttctc 1 -- us2k14Minor allele frequency- T:0.00NS EA 402
    rs1876267491,2
    C--25227088(+) CCTTCA/TCCATT 1 -- us2k10--------
    rs1172460711,2
    F--25227106(+) GGGGGT/CAATAG 1 -- us2k11Minor allele frequency- C:0.01EA 120
    rs1464335421,2
    --25227246(+) ATAACA/GTATTT 1 -- us2k10--------
    rs733411221,2
    C,F--25227374(+) GAGATT/GGCATC 1 -- us2k12Minor allele frequency- G:0.04WA 120
    rs1922134591,2
    --25227454(+) GGCTCC/TAGAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PYGB (25228705 - 25278650 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PYGB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912827CNV Loss21882294
    nsv833948CNV Loss17160897
    nsv522873CNV Gain19592680
    nsv828708CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PYGB
    DNA2.0 Custom Variant and Variant Library Synthesis for PYGB

    (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.)
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    OMIM gene information: 138550    OMIM disorders: --

    18 diseases for PYGB:    
    About MalaCards
    glycogen storage disease v    glycogen storage disease    hyperinsulinism    hypoglycemia
    myocardial infarction    acute myocardial infarction    hypertrophic cardiomyopathy    hyperglycemia
    myopathy    astrocytoma    pneumonia    diabetes mellitus
    tuberculosis    hypertension    alzheimer's disease    schizophrenia
    cerebritis    breast cancer

    5 diseases from the University of Copenhagen DISEASES database for PYGB:
    Glycogen storage disease     Diabetes mellitus     Hyperglycemia     Myopathy
    Hypoglycemia

    PYGB for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PYGB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastric carcinoma 29.1 1 10638593 (1)
    cancer 4.89 1 9583890 (1)
    myocardial infarction 0 1 8096924 (1)
    carcinoma 0 2 9792273 (1), 9583890 (1)

    Genetic Association Database (GAD): PYGB
    Human Genome Epidemiology (HuGE) Navigator: PYGB (5 documents)

    Export disorders for PYGB gene to outside databases

    (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 PYGB gene, integrated from 10 sources (see all 112):
    (articles sorted by number of sources associating them with PYGB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    4. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    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. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. Human brain glycogen phosphorylase: characterization of fetal cDNA and genomic sequences. (PubMed id 2615594)1, 2 Gelinas R.P.... Gorin F.A. (Brain Res. Mol. Brain Res. 1989)
    9. Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes. (PubMed id 3346228)1, 2 Newgard C.B....Fletterick R.J. (J. Biol. Chem. 1988)
    10. Expression of brain-type glycogen phosphorylase is a potentially novel early biomarker in the carcinogenesis of human colorectal carcinomas. (PubMed id 10638593)1, 9 Tashima S....Ogawa M. (Am. J. Gastroenterol. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5834 HGNC: 9723 AceView: PYGB Ensembl:ENSG00000100994 euGenes: HUgn5834
    ECgene: PYGB Kegg: 5834 H-InvDB: PYGB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PYGB Pharmacogenomics, SNPs, Pathways

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

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



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