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

PYGB Gene

protein-coding   GIFtS: 67
GCID: GC20P025228

Phosphorylase, Glycogen; Brain

Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hyperinsulinism, and among its related super-pathways are Metabolic pathways and Glycogen Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PYGB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • UniProtKB: Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11216

  • 4/43 DME Specific Peptides for PYGB (P11216) (see all 43)
     DTQVVLA  KQISVRG  TLYNRIK  IPELMRI 

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

    PYGB Protein Expression
    REFSEQ proteins: NP_002853.2  
    ENSEMBL proteins: 
     ENSP00000216962   ENSP00000395451  
    Reactome Protein details: P11216
    Human Recombinant Protein Products for PYGB: 
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    Cloud-Clone Corp. Proteins for PYGB 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10638593

    PYGB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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: 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 (GO ID links to tree view):    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


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    SwitchGear 3'UTR luciferase reporter plasmidPYGB 3' UTR sequence
    Inhib. RNA
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    (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 PYGB About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)0.34
    Glycogen Metabolism0.34
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Galactose metabolism
    Galactose metabolism0.46
    Glycogen metabolism0.40
    5Glucose metabolism
    Glucose metabolism0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PYGB
        Glycogen metabolism
    Galactose metabolism

    4 Downloadable PowerPoint Slides of QIAGEN 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


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


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


    PYGB for pathways           About GeneDecksing

    Interactions:

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

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

    5/47 Interacting proteins for PYGB (P112163 ENSP000002169624) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PYGB for compounds           About GeneDecksing

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

    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

    10/19 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)

    Search CenterWatch for drugs/clinical trials and news about PYGB

    (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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Inhib. RNA
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    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 

    24/28 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 

    24/555 AceView cDNA sequences (see all 555):

    AF432222 BM669629 BM833461 BG763492 BQ003847 BQ221158 BM980763 BG033441 
    BC030795 BQ054119 CD743231 BX281406 AA354342 BU165660 BM697773 BM021383 
    H40938 BU156170 BU182767 BP336928 CD518408 BM705882 BQ683320 BM698844 

    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™, 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

    PYGB expression in normal human tissues (normalized intensities)      PYGB embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ/bladder   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

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

    SOURCE GeneReport for Unigene cluster: Hs.368157
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    In Situ
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    (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 PYGB gene from 8/21 species (see all 21)    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
    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 a
    64(a)
    1 → many
    V(3579047-3585045)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPH11 Gph1p 54.68(n)
    52.35(a)
      856289   NP_015486.1 


    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)
    About This Section
    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) 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

    10/1594 SNPs in PYGB are shown (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

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    (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
    OMIM gene information: 138550    OMIM disorders: --

    11 diseases for PYGB:    About MalaCards
    glycogen storage disease v    hyperinsulinism    glycogen storage disease    non-small cell lung carcinoma
    hyperglycemia    myocardial infarction    acute myocardial infarction    astrocytoma
    pneumonia    tuberculosis    alzheimer's disease

    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)
    About This Section

    PubMed articles for PYGB gene, integrated from 9 sources (see all 111):
    (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 stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    2. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    3. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (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. (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. (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. (2003)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    8. Human brain glycogen phosphorylase: characterization of fetal cDNA and genomic sequences. (PubMed id 2615594)1, 2 Gelinas R.P.... Gorin F.A. (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. (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. (2000)

    (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)

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

    (According to HUGE)
    About This Section
      --

    (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 PYGB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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