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
External Ids for GYS2 Gene
- HGNC: 4707
- Entrez Gene: 2998
- Ensembl: ENSG00000111713
- OMIM: 138571
- UniProtKB: P54840
Previous GeneCards Identifiers for GYS2 Gene
- GC12M021975
- GC12M021691
- GC12M021589
- GC12M021581
- GC12M021580
- GC12M021689
- GC12M021463
Summaries 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
- Monarch Initiative
- Search for GYS2 at DataMed
- Search for GYS2 at HumanCyc
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
- 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:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
GYS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-GYS2 Antibody
- Novus Biologicals Antibodies for GYS2
-
Abcam antibodies for GYS2
- Invitrogen Antibodies for GYS2 (AFLGC-GYS2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GYS2
Protein Products
- Atlas Antibodies PrEST Antigen GYS2
-
OriGene Purified Proteins for GYS2
- Search Origene for MassSpec and Protein Over-expression Lysates for GYS2
- Origene Custom Protein Services for GYS2
-
Abcam proteins for GYS2
Assay Products
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- Family:
-
- Belongs to the glycosyltransferase 3 family.
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
| 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 | -- |
Phenotypes for GYS2 Gene
- MGI mutant phenotypes for GYS2:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for GYS2:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
Animal Models for GYS2 Gene
- MGI Knock Outs for GYS2:
-
- Gys2 Gys2<tm1a(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GYS2 - Select products 50% OFF >
- * GYS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * GYS2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for GYS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GYS2
- genomics-online: gRNA clones - Search for available Glycogen Synthase 2 gRNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for GYS2
miRNA for GYS2 Gene
- miRTarBase miRNAs that target GYS2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for GYS2
- Browse OriGene Inhibitory RNA Products For GYS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GYS2
- genomics-online: shRNA clones - Search for available Glycogen Synthase 2 shRNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for GYS2 - Select products 50% OFF >
- * GYS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * GYS2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for GYS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GYS2
Cell Line Products
-
Horizon Cell Lines for GYS2
No data available for Transcription Factor Targets and HOMER Transcription for GYS2 Gene
Localization for GYS2 Gene
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| cytosol | 4 |
| mitochondrion | 0 |
| peroxisome | 0 |
| nucleus | 0 |
| golgi apparatus | 0 |
| 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 | -- |
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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism | ||
| 2 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
| 3 | Galactose metabolism | ||
| 4 | Glycogen storage diseases | ||
| 5 | AMP-activated Protein Kinase (AMPK) Signaling | ||
Pathways by source for GYS2 Gene
4 BioSystems pathways for GYS2 Gene
11 Reactome pathways for GYS2 Gene
7 KEGG pathways for GYS2 Gene
3 GeneGo (Thomson Reuters) pathways 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.
Interacting Proteins for GYS2 Gene
GPS-Prot Interaction Network for GYS2
| 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 | -- |
No data available for SIGNOR curated interactions for GYS2 Gene
Drugs & Compounds for GYS2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Atlas Antibodies PrEST Antigen GYS2
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 :
-
- ENST00000261195 3132 bps (ENST00000261195.2)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GYS2 - Select products 50% OFF >
- * GYS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * GYS2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for GYS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GYS2
- genomics-online: gRNA clones - Search for available Glycogen Synthase 2 gRNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for GYS2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for GYS2
- Browse OriGene Inhibitory RNA Products For GYS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GYS2
- genomics-online: shRNA clones - Search for available Glycogen Synthase 2 shRNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for GYS2 - Select products 50% OFF >
- * GYS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * GYS2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for GYS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GYS2
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of GYS2 Gene:
GYS2SOURCE GeneReport for Unigene cluster for GYS2 Gene:
Hs.82614Evidence 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
Primer Products
-
OriGene qPCR primer pairs for GYS2
-
OriGene qPCR primer pairs and template standards for GYS2
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GYS2 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GYS2 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GYS2 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GYS2 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gys2 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gys2 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GYS2 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GYS2 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GYS2 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | gys2 33 32 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG6904 33 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y46G5A.31 34 |
|
|
|
| gsy-1 33 |
|
OneToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GSY1 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GYS2 Gene
Disorders for GYS2 Gene
(6) MalaCards diseases for GYS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease 0, liver |
|
|
| glycogen storage disease |
|
|
| glycogen storage disease type 0 |
|
|
| hypoglycemia |
|
|
| fasting hypoglycemia |
|
|
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
No data available for Genatlas for GYS2 Gene
Publications for GYS2 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for GYS2 Gene
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- antibodies-online: Show 4 available Glycogen Synthase 2 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for GYS2
- Search Santa Cruz Biotechnology (SCBT) for GYS2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GYS2
- Horizon Cell Lines for GYS2
- genomics-online: cdna clones - Search for available Glycogen Synthase 2 CDNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
- orf clones - Search for available Glycogen Synthase 2 ORF products
- Overview of 104 available Glycogen Synthase 2 gene related products
- genomics-online: gRNA clones - Search for available Glycogen Synthase 2 gRNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
- genomics-online: primer clones - Search for available Glycogen Synthase 2 Primer products
- Overview of 104 available Glycogen Synthase 2 gene related products
- genomics-online: shRNA clones - Search for available Glycogen Synthase 2 shRNA products
- Overview of 104 available Glycogen Synthase 2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GYS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GYS2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GYS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GYS2
Sources for GYS2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource