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Aliases for GYS2 Gene

Aliases for GYS2 Gene

  • Glycogen Synthase 2 (Liver) 2 3
  • EC 2.4.1.11 4 63

External Ids for GYS2 Gene

Previous GeneCards Identifiers for GYS2 Gene

  • GC12M021975
  • GC12M021691
  • GC12M021589
  • GC12M021581
  • GC12M021580
  • GC12M021689
  • GC12M021463

Summaries for GYS2 Gene

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 0, liver and glycogen storage disease type 0. Among its related pathways are PI3K-Akt signaling pathway and Akt Signaling. 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 for GYS2 Gene

  • Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYS2 Gene

Genomics for GYS2 Gene

Genomic Location for GYS2 Gene

Start:
21,531,527 bp from pter
End:
21,630,788 bp from pter
Size:
99,262 bases
Orientation:
Minus strand

Genomic View for GYS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GYS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYS2 Gene

Proteins for GYS2 Gene

  • Protein details for GYS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54840-GYS2_HUMAN
    Recommended name:
    Glycogen [starch] synthase, liver
    Protein Accession:
    P54840
    Secondary Accessions:
    • A0AVD8

    Protein attributes for GYS2 Gene

    Size:
    703 amino acids
    Molecular mass:
    80989 Da
    Quaternary structure:
    • Interacts with GYG1 (via C-terminus); required for GYS2-mediated glycogen synthesis.

neXtProt entry for GYS2 Gene

Proteomics data for GYS2 Gene at MOPED

Post-translational modifications for GYS2 Gene

  • 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). Phosphorylation at Ser-8 is not required for interaction with GYG1 (By similarity). Interaction with GYG1 does not regulate the phosphorylation at Ser-8 and Ser-641 (By similarity).
  • Ubiquitination at Lys381
  • Modification sites at PhosphoSitePlus

Other Protein References for GYS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GYS2 Gene

Gene Families for GYS2 Gene

HGNC:
  • GLT1 :Glycosyltransferase group 1 domain containing

Protein Domains for GYS2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GYS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54840

UniProtKB/Swiss-Prot:

GYS2_HUMAN :
  • P54840
Family:
  • Belongs to the glycosyltransferase 3 family.
genes like me logo Genes that share domains with GYS2: view

Function for GYS2 Gene

Molecular function for GYS2 Gene

GENATLAS Biochemistry: glycogen synthase,liver,the rate limiting enzyme of the insulin-induced glycogenesis
UniProtKB/Swiss-Prot CatalyticActivity: UDP-alpha-D-glucose + ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1)
UniProtKB/Swiss-Prot EnzymeRegulation: 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).
UniProtKB/Swiss-Prot Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan

Enzyme Numbers (IUBMB) for GYS2 Gene

Gene Ontology (GO) - Molecular Function for GYS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004373 glycogen (starch) synthase activity ISS --
GO:0042803 protein homodimerization activity TAS 9691087
GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate TAS --
genes like me logo Genes that share ontologies with GYS2: view
genes like me logo Genes that share phenotypes with GYS2: view

miRNA for GYS2 Gene

miRTarBase miRNAs that target GYS2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GYS2 Gene

Localization for GYS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GYS2 Gene COMPARTMENTS Subcellular localization image for GYS2 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GYS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton ISS --
GO:0005938 cell cortex ISS --
GO:0030864 cortical actin cytoskeleton ISS --
genes like me logo Genes that share ontologies with GYS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GYS2 Gene

Pathways for GYS2 Gene

genes like me logo Genes that share pathways with GYS2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P54840-GYS2_HUMAN

  • Pathway: Glycan biosynthesis; glycogen biosynthesis

Gene Ontology (GO) - Biological Process for GYS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005978 glycogen biosynthetic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 9691087
GO:0009058 biosynthetic process --
genes like me logo Genes that share ontologies with GYS2: view

Compounds for GYS2 Gene

(3) HMDB Compounds for GYS2 Gene

Compound Synonyms Cas Number PubMed IDs
Amylose
  • 4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose
9005-82-7
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphate glucose
  • (UPD)-glucose
133-89-1

(3) Novoseek inferred chemical compound relationships for GYS2 Gene

Compound -log(P) Hits PubMed IDs
glycogen 80 30
glucose 44.6 4
glucose 6-phosphate 40 1
genes like me logo Genes that share compounds with GYS2: view

Transcripts for GYS2 Gene

mRNA/cDNA for GYS2 Gene

Unigene Clusters for GYS2 Gene

Glycogen synthase 2 (liver):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GYS2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for GYS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GYS2 Gene

No ASD Table

Relevant External Links for GYS2 Gene

GeneLoc Exon Structure for
GYS2
ECgene alternative splicing isoforms for
GYS2

Expression for GYS2 Gene

mRNA expression in normal human tissues for GYS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GYS2 Gene

This gene is overexpressed in Liver (33.4), Esophagus - Mucosa (5.0), and Vagina (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GYS2 Gene

SOURCE GeneReport for Unigene cluster for GYS2 Gene Hs.82614

genes like me logo Genes that share expressions with GYS2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GYS2 Gene

Orthologs for GYS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GYS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GYS2 35
  • 99.67 (n)
  • 99.72 (a)
GYS2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GYS2 35
  • 90.03 (n)
  • 94.59 (a)
GYS2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GYS2 35
  • 92.08 (n)
  • 95.73 (a)
GYS2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gys2 35
  • 86.39 (n)
  • 93.46 (a)
Gys2 16
Gys2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GYS2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GYS2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gys2 35
  • 85.71 (n)
  • 92.74 (a)
chicken
(Gallus gallus)
Aves GYS2 35
  • 79.18 (n)
  • 84.35 (a)
GYS2 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYS2 36
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gys2 35
  • 71.82 (n)
  • 79.48 (a)
gys2 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6904 36
  • 56 (a)
OneToMany
CG6904 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea gsy-1 36
  • 52 (a)
OneToMany
Y46G5A.31 37
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSY1 36
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9691 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for GYS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GYS2 Gene

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

Paralogs for GYS2 Gene

Paralogs for GYS2 Gene

Selected SIMAP similar genes for GYS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GYS2: view

Variants for GYS2 Gene

Sequence variations from dbSNP and Humsavar for GYS2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs936 -- 21,536,802(-) AATGA(C/T)AATTT utr-variant-3-prime, intron-variant
rs984 -- 21,536,815(-) AAGAA(A/C/T)TTGAG utr-variant-3-prime, intron-variant
rs153935 -- 21,600,379(+) cacct(C/T)agcct intron-variant
rs153936 -- 21,600,224(+) TTCAA(G/T)TGATC intron-variant
rs153937 -- 21,598,261(+) aatac(C/G)tgact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GYS2 Gene

Variant ID Type Subtype PubMed ID
nsv898896 CNV Gain 21882294
nsv898897 CNV Loss 21882294
nsv898898 CNV Gain 21882294
esv2745623 CNV Deletion 23290073
nsv832349 CNV Gain 17160897

Relevant External Links for GYS2 Gene

HapMap Linkage Disequilibrium report
GYS2
Human Gene Mutation Database (HGMD)
GYS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GYS2 Gene

Disorders for GYS2 Gene

(1) OMIM Diseases for GYS2 Gene (138571)

UniProtKB/Swiss-Prot

GYS2_HUMAN
  • 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. {ECO:0000269 PubMed:9691087}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for GYS2 Gene

Disease -log(P) Hits PubMed IDs
liver glycogen synthase deficiency 99.3 10
hypoglycemia 62 2

Relevant External Links for GYS2

Genetic Association Database (GAD)
GYS2
Human Genome Epidemiology (HuGE) Navigator
GYS2
genes like me logo Genes that share disorders with GYS2: view

Publications for GYS2 Gene

  1. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (PMID: 9691087) Orho M. … Groop L.C. (J. Clin. Invest. 1998) 3 4 23
  2. Primary structure of human liver glycogen synthase deduced by cDNA cloning. (PMID: 8203908) Nuttall F.Q. … Lee E.Y. (Arch. Biochem. Biophys. 1994) 3 4 23
  3. Comparative characterization of human and rat liver glycogen synthase. (PMID: 1731614) Westphal S.A. … Nuttall F.Q. (Arch. Biochem. Biophys. 1992) 3 23
  4. A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus. (PMID: 12732844) Watanabe I. … Koga T. (Clin. Pharmacol. Ther. 2003) 3 48
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GYS2 Gene

Sources for GYS2 Gene

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