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GYS2 Gene

protein-coding   GIFtS: 65
GCID: GC12M021689

Glycogen Synthase 2 (Liver)

  See GYS2-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
Glycogen Synthase 2 (Liver)1 2
EC 2.4.1.113 8
Glycogen [Starch] Synthase, Liver2

External Ids:    HGNC: 47071   Entrez Gene: 29982   Ensembl: ENSG000001117137   OMIM: 1385715   UniProtKB: P548403   

Export aliases for GYS2 gene to outside databases

Previous GC identifers: GC12M021975 GC12M021691 GC12M021589 GC12M021581 GC12M021580 GC12M021463


(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 GYS2 Gene:
The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of
glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule.
Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting
hypoglycemia with decreased liver glycogen content. (provided by RefSeq, Dec 2009)

GeneCards Summary for GYS2 Gene:
GYS2 (glycogen synthase 2 (liver)) is a protein-coding gene. Diseases associated with GYS2 include glycogen storage disease type 0, and fasting hypoglycemia. GO annotations related to this gene include protein homodimerization activity and glycogen (starch) synthase activity. An important paralog of this gene is GYS1.

UniProtKB/Swiss-Prot: GYS2_HUMAN, P54840
Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GYS2 gene promoter:
         COUP-TF1   PPAR-gamma1   HSF1short   HSF1 (long)   PPAR-gamma2   HNF-4alpha2   Cdc5   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGYS2 promoter sequence
   Search Chromatin IP Primers for GYS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GYS2


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

Entrez Gene cytogenetic band: 12p12.2   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.2-p11.2

GYS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GYS2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M021689:  view genomic region     (about GC identifiers)

Start:
21,689,123 bp from pter      End:
21,757,781 bp from pter
Size:
68,659 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: GYS2_HUMAN, P54840 (See protein sequence)
Recommended Name: Glycogen [starch] synthase, liver  
Size: 703 amino acids; 80989 Da
Secondary accessions: A0AVD8

Explore the universe of human proteins at neXtProt for GYS2: NX_P54840

Explore proteomics data for GYS2 at MOPED

Post-translational modifications: 

  • Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at
    Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B. Dephosphorylation
    at Ser-641 and Ser-645 by PP1 activates the enzyme (By similarity)1
  • Ubiquitination2 at Lys381
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GYS2 (P54840) (see all 21)
     FPSYYEP  IMPAKTN  SVPPSPS  NKGADIF 


    See GYS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068776.2  
    ENSEMBL proteins: 
     ENSP00000261195  
    Reactome Protein details: P54840

    GYS2 Human Recombinant Protein Products:

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    Novus Biologicals GYS2 Protein
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    Cloud-Clone Corp. Proteins for GYS2

     
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    Cloud-Clone Corp. ELISAs for GYS2
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    Search eBioscience for ELISAs for GYS2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT1: Glycosyltransferase group 1 domain containing

    1 InterPro protein domain:
     IPR008631 Glycogen_synth

    Graphical View of Domain Structure for InterPro Entry P54840

    ProtoNet protein and cluster: P54840

    1 Blocks protein domain: IPB008631 Glycogen synthase

    UniProtKB/Swiss-Prot: GYS2_HUMAN, P54840
    Similarity: Belongs to the glycosyltransferase 3 family


    Find genes that share domains with GYS2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GYS2_HUMAN, P54840
    Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan
    Catalytic activity: UDP-glucose ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1)
    Enzyme regulation: Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards
    UDP-glucose. When in the non-phosphorylated state, glycogen synthase does not require glucose-6-phosphate as an
    allosteric activator; when phosphorylated it does (By similarity)

         Genatlas biochemistry entry for GYS2:
    glycogen synthase,liver,the rate limiting enzyme of the insulin-induced glycogenesis

         Enzyme Number (IUBMB): EC 2.4.1.111 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004373glycogen (starch) synthase activity ISS--
    GO:0042803protein homodimerization activity TAS9691087
    GO:0061547glycogen synthase activity, transferring glucose-1-phosphate TAS--
         
    Find genes that share ontologies with GYS2           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gys2):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  liver/biliary system  muscle 

    Find genes that share phenotypes with GYS2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GYS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GYS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GYS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GYS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target GYS2:
    hsa-let-7b-5p (MIRT032359)

    Block miRNA regulation of human, mouse, rat GYS2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GYS2:
    hsa-miR-218-2*
    SwitchGear 3'UTR luciferase reporter plasmidGYS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GYS2
    Predesigned siRNA for gene silencing in human, mouse, rat GYS2

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS2


    (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
    cytoskeleton4
    cytosol4
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ISS--
    GO:0005938cell cortex ISS--
    GO:0030864cortical actin cytoskeleton ISS--

    Find genes that share ontologies with GYS2           About GenesLikeMe


    (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 GYS2 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.44
    glycogen biosynthesis II (from UDP-D-Glucose)0.00
    Glycogen synthesis0.00
    2Glucuronidation
    Starch and sucrose metabolism0.41
    Glycogen metabolism0.00
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Akt Signaling
    Akt Signaling0.60
    5G-AlphaQ Signaling
    G-AlphaQ Signaling0.47


    Find genes that share SuperPaths with GYS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GYS2 (see all 9)
        Activation of PKA through GPCR
    PKA Signaling
    IGF1R Signaling
    G-AlphaQ Signaling
    AMPK Enzyme Complex Pathway

    3 GeneGo (Thomson Reuters) Pathways for GYS2
        Galactose metabolism
    Glycogen metabolism
    Development Leptin signaling via PI3K-dependent pathway

    4 BioSystems Pathways for GYS2
        Insulin Signaling
    Glycogen Metabolism
    AMPK signaling
    glycogen biosynthesis II (from UDP-D-Glucose)

    2 Reactome Pathways for GYS2
        Glycogen synthesis
    Myoclonic epilepsy of Lafora


    3 Kegg Pathways  (Kegg details for GYS2):
        Starch and sucrose metabolism
    PI3K-Akt signaling pathway
    Insulin signaling pathway

    UniProtKB/Swiss-Prot: GYS2_HUMAN, P54840
    Pathway: Glycan biosynthesis; glycogen biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including GYS2: 

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GYS2

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

    Selected Interacting proteins for GYS2 (P548403 ENSP000002611954) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2P546463, ENSP000003602904I2D: score=1 STRING: ENSP00000360290
    ACSL1P331213I2D: score=1 
    AMY2AP047463I2D: score=1 
    EPM2AO952783I2D: score=1 
    GABARAPO951663I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005978glycogen biosynthetic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006091generation of precursor metabolites and energy TAS9691087
    GO:0009058biosynthetic process ----

    Find genes that share ontologies with GYS2           About GenesLikeMe



    (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 GYS2

    3 HMDB Compounds for GYS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--

    3 Novoseek inferred chemical compound relationships for GYS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 80 56 1731614 (4), 20178984 (4), 8203908 (3), 2105077 (2) (see all 16)
    glucose 44.6 10 2105077 (2), 18165236 (1), 20178984 (1)
    glucose 6-phosphate 40 1 1731614 (1)



    Find genes that share compounds with GYS2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GYS2 gene: 
    NM_021957.3  

    Unigene Cluster for GYS2:

    Glycogen synthase 2 (liver)
    Hs.82614  [show with all ESTs]
    Unigene Representative Sequence: NM_021957
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000261195(uc001rfb.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat GYS2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GYS2:
    hsa-miR-218-2*
    SwitchGear 3'UTR luciferase reporter plasmidGYS2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GYS2

    Additional mRNA sequence: 

    AK308373.1 BC126310.1 BC126312.1 D29685.1 S70004.1 

    6 DOTS entries:

    DT.112516  DT.92425031  DT.95108663  DT.95149901  DT.91953687  DT.95108660 

    Selected AceView cDNA sequences (see all 35):

    T61873 CB157076 N53928 BX099960 S70004 AV653197 N63800 BG617314 
    NM_021957 AV653536 BG566755 N52282 AI374845 BG565220 AV697542 T78495 
    AV693308 N59021 BG618693 AV692364 N72934 AV690520 AV690553 AV693474 

    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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    GYS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACCACCAT
    GYS2 Expression
    About this image


    GYS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Liver (Hepatobiliary System)
     
     Esophagus (Gastrointestinal Tract)
    GYS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GYS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.82614
        Pathway & Disease-focused RT2 Profiler PCR Array including GYS2: 
              Glucose Metabolism in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GYS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS2

    (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 GYS2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gys21 , 5 glycogen synthase 21, 5 86.39(n)1
    93.46(a)1
      6 (74.04 cM)5
    2324931  NM_145572.21  NP_663547.21 
     1424226135 
    chicken
    (Gallus gallus)
    Aves GYS21 glycogen synthase 2 (liver) 79.18(n)
    84.35(a)
      418201  XM_004937991.1  XP_004938048.1 
    lizard
    (Anolis carolinensis)
    Reptilia GYS26
    glycogen synthase 2 (liver)
    84(a)
    1 ↔ 1
    5(6299880-6343443)
    zebrafish
    (Danio rerio)
    Actinopterygii gys21 glycogen synthase 2 71.82(n)
    79.48(a)
      373082  NM_001018679.1  NP_001018199.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69043 glycogen biosynthesis glycogen (starch)
    synthase
    62(a)   88E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.313   -- 54(a)   II(12866742-12877985)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GSY16
    Glycogen synthase with similarity to Gsy2p, the mo...
    48(a)
    1 → many
    VI(174265-176391) YFR015C


    ENSEMBL Gene Tree for GYS2 (if available)
    TreeFam Gene Tree for GYS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GYS2 gene
    GYS12  
    1 SIMAP similar gene for GYS2 using alignment to 1 protein entry:     GYS2_HUMAN:
    GYS1

    Find genes that share paralogs with GYS2           About GenesLikeMe



    (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 GYS2 (see all 1635)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0078634
    Glycogen storage disease 0 (GSD0)4--see VAR_0078632 P Q mis40--------
    VAR_0078604
    Glycogen storage disease 0 (GSD0)4--see VAR_0078602 N S mis40--------
    VAR_0078644
    Glycogen storage disease 0 (GSD0)4--see VAR_0078642 S P mis40--------
    VAR_0078654
    Glycogen storage disease 0 (GSD0)4--see VAR_0078652 M R mis40--------
    VAR_0078614
    Glycogen storage disease 0 (GSD0)4--see VAR_0078612 A P mis40--------
    VAR_0078624
    Glycogen storage disease 0 (GSD0)4--see VAR_0078622 H D mis40--------
    rs1219184201,2
    C,Fpathogenic121568212(-) GCACCC/AAGAGT 2 /Q /P mis11Minor allele frequency- A:0.00NA 4510
    rs37418401,2
    C,F--21468231(+) AAAAAA/CAAAAA 1 -- int13Minor allele frequency- C:0.33NA WA 6
    rs1485580691,2
    C--21471873(+) TCCTA-/TTTTTT 1 -- int10--------
    rs1478665321,2
    C--21472992(+) AAGAT-/AACAAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for GYS2 (21689123 - 21757781 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GYS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745623CNV Deletion23290073
    nsv898897CNV Loss21882294
    nsv898898CNV Gain21882294
    nsv898896CNV Gain21882294
    nsv832349CNV Gain17160897

    Human Gene Mutation Database (HGMD): GYS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GYS2
    DNA2.0 Custom Variant and Variant Library Synthesis for GYS2

    (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: 138571   
    OMIM disorders: 240600  
    UniProtKB/Swiss-Prot: GYS2_HUMAN, P54840
  • Glycogen storage disease 0 (GSD0) [MIM:240600]: A metabolic disorder characterized by fasting
    hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate
    concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and
    hyperlactatemia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for GYS2:    
    About MalaCards
    glycogen storage disease type 0    fasting hypoglycemia    hypoglycemia


    Find genes that share disorders with GYS2           About GenesLikeMe

    2 Novoseek inferred disease relationships for GYS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liver glycogen synthase deficiency 99.3 15 8831078 (2), 9691087 (2), 18341095 (2), 12794686 (1) (see all 7)
    hypoglycemia 62 2 20051115 (1), 11483824 (1)

    Genetic Association Database (GAD): GYS2
    Human Genome Epidemiology (HuGE) Navigator: GYS2 (7 documents)

    Export disorders for GYS2 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 GYS2 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with GYS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (PubMed id 9691087)1, 2, 9 Orho M.... Groop L.C. (J. Clin. Invest. 1998)
    2. Primary structure of human liver glycogen synthase deduced by cDNA cloning. (PubMed id 8203908)1, 2, 9 Nuttall F.Q.... Lee E.Y. (Arch. Biochem. Biophys. 1994)
    3. Genetic associations of brain structural networks in schizophrenia: a preliminary study. (PubMed id 20691427)1, 4 Jagannathan K....Pearlson G.D. (Biol. Psychiatry 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    6. 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)
    7. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    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. (Genome Res. 2004)
    9. A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus. (PubMed id 12732844)1, 4 Watanabe I....Koga T. (Clin. Pharmacol. Ther. 2003)
    10. Comparative characterization of human and rat liver glycogen synthase. (PubMed id 1731614)1, 9 Westphal S.A. and Nuttall F.Q. (Arch. Biochem. Biophys. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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: 2998 HGNC: 4707 AceView: GYS2 Ensembl:ENSG00000111713 euGenes: HUgn2998
    ECgene: GYS2 Kegg: 2998 H-InvDB: GYS2

    (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 GYS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GYS2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GYS2 gene:
    Search GeneIP for patents involving GYS2

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



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