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Aliases for GYS2 Gene

Aliases for GYS2 Gene

  • Glycogen Synthase 2 2 3 5
  • EC 2.4.1.11 4 63
  • Glycogen Synthase 2 (Liver) 2

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) is a Protein Coding gene. Diseases associated with GYS2 include glycogen storage disease 0, liver and glycogen storage disease due to hepatic glycogen synthase deficiency. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and glycogen synthase activity, transferring glucose-1-phosphate. 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

Chromosome:
12
Start:
21,531,527 bp from pter
End:
21,630,773 bp from pter
Size:
99,247 bases
Orientation:
Minus strand

Genomic View for GYS2 Gene

Genes around GYS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GYS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GYS2 Gene

Gene Families for GYS2 Gene

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 :
  • Belongs to the glycosyltransferase 3 family.
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:0005536 glucose binding IEA --
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

Human Phenotype Ontology for GYS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GYS2 Gene

MGI Knock Outs for GYS2:
  • Gys2 tm1a(KOMP)Wtsi

Animal Model Products

No data available for Transcription Factor Targets 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 5
cytosol 5
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GYS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030864 cortical actin cytoskeleton ISS --
GO:0043265 ectoplasm 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 & Interactions for GYS2 Gene

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

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:0005978 glycogen biosynthetic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 9691087
GO:0009749 response to glucose ISS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with GYS2: view

No data available for SIGNOR curated interactions for GYS2 Gene

Drugs & Compounds for GYS2 Gene

(2) Drugs for GYS2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(4) Additional Compounds for GYS2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
amylose
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
9005-82-7
Uridine diphosphate glucose
  • (UDP)glucose
  • (UPD)-glucose
  • UDP Glucose
  • UDP-a-D-Glucose
  • UDP-alpha-D-Glucose
133-89-1
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:

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 (x33.4), Esophagus - Mucosa (x5.0), and Vagina (x4.4).

Protein differential expression in normal tissues from HIPED for GYS2 Gene

This gene is overexpressed in Liver (37.2), Cervix (15.4), and Gallbladder (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GYS2: view

Protein tissue co-expression partners for GYS2 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GYS2 35
  • 99.67 (n)
  • 99.72 (a)
GYS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gys2 35
  • 85.71 (n)
  • 92.74 (a)
oppossum
(Monodelphis domestica)
Mammalia GYS2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GYS2 36
  • 73 (a)
OneToOne
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 37
  • 62 (a)
CG6904 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.31 37
  • 54 (a)
gsy-1 36
  • 52 (a)
OneToMany
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

(1) 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
VAR_007860 Glycogen storage disease 0 (GSD0)
VAR_007861 Glycogen storage disease 0 (GSD0)
VAR_007862 Glycogen storage disease 0 (GSD0)
VAR_007863 Glycogen storage disease 0 (GSD0)
VAR_007864 Glycogen storage disease 0 (GSD0)

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

Variation tolerance for GYS2 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.84% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(6) MalaCards diseases for GYS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease 0, liver
  • glycogen storage disease type 0, liver
glycogen storage disease due to hepatic glycogen synthase deficiency
  • gsd due to hepatic glycogen synthase deficiency
glycogen storage disease type 0
  • glycogen storage disease 0
glycogen storage disease
  • glycogenoses
fasting hypoglycemia
- elite association - COSMIC cancer census association via MalaCards
Search GYS2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GYS2

Genetic Association Database (GAD)
GYS2
Human Genome Epidemiology (HuGE) Navigator
GYS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GYS2
genes like me logo Genes that share disorders with GYS2: view

No data available for Genatlas for GYS2 Gene

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 67
  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 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition. (PMID: 22951595) Hwang J.Y. … Lee J.Y. (J. Hum. Genet. 2012) 3

Products for GYS2 Gene

Sources for GYS2 Gene

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