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 conte... See more...

Aliases for GYS2 Gene

Aliases for GYS2 Gene

  • Glycogen Synthase 2 2 3 5
  • Glycogen [Starch] Synthase, Liver 3 4
  • Glycogen Synthase 2 (Liver) 2 3
  • EC 2.4.1.11 4 54

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. Among its related pathways are Activation of cAMP-Dependent PKA and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (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 Summary for GYS2 Gene

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

Additional gene information for GYS2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GYS2 Gene

Genomics for GYS2 Gene

GeneHancer (GH) Regulatory Elements for GYS2 Gene

Promoters and enhancers for GYS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J021604 Promoter/Enhancer 1 EPDnew Ensembl 750.3 +26.0 25972 0.4 FOXA1 RAD21 SP1 RXRA FOXA2 JUND ATF3 YY1 ZBTB33 GABPA GYS2 L13713-048 piR-39858-115 ENSG00000285854
GH12J021527 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 5.6 +103.2 103172 2 ZBTB6 RAD21 POLR2A MAFK SP7 GLIS2 ZIC2 ZBTB8A ZSCAN4 PATZ1 SPX PYROXD1 GYS2 piR-39858-115
GH12J021677 Enhancer 0.8 Ensembl ENCODE 11.8 -47.1 -47128 5.8 CTCF ZNF362 RAD21 ZNF121 ZNF384 REST TRIM22 ETV6 SMC3 GATA3 piR-46501-025 ENSG00000256615 GYS2 LDHB SPX KCNJ8 LOC105369689 piR-55194-086 lnc-KCNJ8-2
GH12J021559 Enhancer 0.7 Ensembl ENCODE 11.5 +70.6 70573 0.8 SP1 FOXA2 CEBPB YY1 FOSL2 RAD21 HNF4A RXRA ATF3 MAX SPX GYS2 piR-39858-115 L13713-048 ENSG00000285854
GH12J021551 Enhancer 0.4 Ensembl ENCODE 12 +78.1 78052 3 ZNF366 piR-39858-115 SPX GYS2 ENSG00000256615 LDHB L13713-048 ENSG00000285854
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GYS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GYS2 gene promoter:
  • Cdc5
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • HSF1 (long)
  • HSF1short
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for GYS2 Gene

Genomic Locations for GYS2 Gene
chr12:21,531,527-21,630,773
(GRCh38/hg38)
Size:
99,247 bases
Orientation:
Minus strand
chr12:21,689,123-21,757,781
(GRCh37/hg19)
Size:
68,659 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

Selected DME Specific Peptides for GYS2 Gene

P54840:
  • TPNGLNVKKFSA
  • TIRRIGLFN
  • FPSYYEP
  • GRWLIEG
  • TNNFNVETLKGQAVRKQLWD
  • TTHATLLGR
  • HEFQNLHA
  • DKEAGERQIYHRYCMERA
  • ERYDEEEEA
  • YGIYIVDRR
  • SVPPSPS
  • HPEFLSSTSPLLP
  • SYYEPWGYTPAECTVMG
  • QSRRQRII
  • IMPAKTN
  • NKGADIF
  • TNLSGFGC
  • RRQRIIQRNRTERLSDLLDW
  • HVFTTVS
  • PPVTTHN
  • AGRYEFSNKG

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

Domains & Families for GYS2 Gene

Gene Families for GYS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GYS2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GYS2 Gene

GenScript: Design optimal peptide antigens:
  • Glycogen [starch] synthase, liver (GYS2_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + H(+) + UDP; Xref=Rhea:RHEA:18549, Rhea:RHEA-COMP:9584, Rhea:RHEA-COMP:9587, ChEBI:CHEBI:15378, ChEBI:CHEBI:15444, ChEBI:CHEBI:58223, ChEBI:CHEBI:58885; EC=2.4.1.11;.
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).
GENATLAS Biochemistry:
glycogen synthase,liver,the rate limiting enzyme of the insulin-induced glycogenesis

Enzyme Numbers (IUBMB) for GYS2 Gene

Phenotypes From GWAS Catalog 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 IBA,ISS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
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

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 Gys2<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for GYS2 Gene

Localization for GYS2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GYS2 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 0
peroxisome 0
nucleus 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for GYS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IBA --
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 and Subcellular locations from the Human Protein Atlas (HPA) for GYS2 Gene

Pathways & Interactions for GYS2 Gene

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

Pathways by source for GYS2 Gene

9 Qiagen pathways for GYS2 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Akt Signaling
  • Alpha-Adrenergic Signaling
  • AMPK Enzyme Complex Pathway

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:0006091 generation of precursor metabolites and energy TAS 9691087
GO:0008152 metabolic process IEA --
GO:0009749 response to glucose ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphate glucose Experimental Pharma 0
Amylose Investigational Pharma 0

(2) Additional Compounds for GYS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GYS2: view

Transcripts for GYS2 Gene

mRNA/cDNA for GYS2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GYS2 Gene



Protein tissue co-expression partners for GYS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GYS2 Gene:

GYS2

SOURCE GeneReport for Unigene cluster for GYS2 Gene:

Hs.82614

Evidence on tissue expression from TISSUES for GYS2 Gene

  • Liver(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GYS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with GYS2: view

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 33 32
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GYS2 33 32
  • 92.08 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GYS2 33
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GYS2 33 32
  • 90.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gys2 17 33 32
  • 86.39 (n)
rat
(Rattus norvegicus)
Mammalia Gys2 32
  • 85.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GYS2 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GYS2 33 32
  • 79.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYS2 33
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gys2 33 32
  • 71.82 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6904 33 34
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.31 34
  • 54 (a)
gsy-1 33
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSY1 33
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 54 (a)
OneToMany
Cin.9691 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9691 32
Species where no ortholog for GYS2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GYS2: view image

Paralogs for GYS2 Gene

Paralogs for GYS2 Gene

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

  • GYS2_HUMAN
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 Variation AA Info Type
rs10431213 benign, not specified, Hypoglycemia with deficiency of glycogen synthetase in the liver, not provided 21,536,948(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs117474773 benign-likely-benign, uncertain-significance, not specified, Hypoglycemia with deficiency of glycogen synthetase in the liver 21,537,012(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs117639846 benign, conflicting-interpretations-of-pathogenicity, not specified, Hypoglycemia with deficiency of glycogen synthetase in the liver, not provided 21,537,101(-) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1181756742 uncertain-significance, Hypoglycemia with deficiency of glycogen synthetase in the liver 21,537,092(-) A/AA coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs121918419 pathogenic, likely-pathogenic, Hypoglycemia with deficiency of glycogen synthetase in the liver, Glycogen storage disease 21,568,952(-) G/A coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv2745623 CNV deletion 23290073
nsv1037727 CNV loss 25217958
nsv1051012 CNV loss 25217958
nsv1054220 CNV gain 25217958
nsv557741 CNV gain 21841781
nsv557744 CNV loss 21841781
nsv557745 CNV loss 21841781
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)

Additional Variant Information for GYS2 Gene

Human Gene Mutation Database (HGMD)
GYS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GYS2

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for GYS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 LC (The Journal of clinical investigation 1998) 3 4 23 56
  2. Primary structure of human liver glycogen synthase deduced by cDNA cloning. (PMID: 8203908) Nuttall FQ … Lee EY (Archives of biochemistry and biophysics 1994) 3 4 23 56
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 43 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 43 56

Products for GYS2 Gene

Sources for GYS2 Gene