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GYS2 glycogen synthase 2 [ Homo sapiens (human) ]

Gene ID: 2998, updated on 11-Sep-2019

Summary

Official Symbol
GYS2provided by HGNC
Official Full Name
glycogen synthase 2provided by HGNC
Primary source
HGNC:HGNC:4707
See related
Ensembl:ENSG00000111713 MIM:138571
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Restricted expression toward liver (RPKM 35.4) See more
Orthologs

Genomic context

See GYS2 in Genome Data Viewer
Location:
12p12.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (21531527..21604858, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21684461..21783722, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene elongin C pseudogene 31 Neighboring gene RecQ like helicase Neighboring gene golgi transport 1B Neighboring gene spexin hormone Neighboring gene uncharacterized LOC105369689 Neighboring gene lactate dehydrogenase B Neighboring gene uncharacterized LOC102724261

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
    AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of carbohydrate metabolism, organism-specific biosystem (from REACTOME)
    Diseases of carbohydrate metabolism, organism-specific biosystemThe processes by which dietary carbohydrate is digested to monosaccharides and these are taken up from the gut lumen into cells where they are oxidized to yield energy or consumed in biosynthetic pro...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen storage disease type 0 (liver GYS2), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type 0 (liver GYS2), organism-specific biosystemGlycogen synthase 2 (GYS2 "liver") normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. Expression of GYS2 is confined to the ...
  • Glycogen storage disease type IV (GBE1), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type IV (GBE1), organism-specific biosystemNormally, cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules of both l...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycogen synthesis, organism-specific biosystem (from REACTOME)
    Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
  • glycogen biosynthesis, organism-specific biosystem (from BIOCYC)
    glycogen biosynthesis, organism-specific biosystemGeneral Background : Glycogens "Glycogen" is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages between the glucose un...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycogen (starch) synthase activity EXP
Inferred from Experiment
more info
PubMed 
glycogen (starch) synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogen (starch) synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
glycogen (starch) synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
glycogen synthase activity, transferring glucose-1-phosphate TAS
Traceable Author Statement
more info
 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycogen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glycogen biosynthetic process TAS
Traceable Author Statement
more info
 
response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
cortical actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
ectoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
glycogen [starch] synthase, liver
Names
glycogen synthase 2 (liver)
NP_068776.2
XP_006719126.1
XP_016874734.1
XP_024304728.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016167.1 RefSeqGene

    Range
    5001..73741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021957.4NP_068776.2  glycogen [starch] synthase, liver

    See identical proteins and their annotated locations for NP_068776.2

    Status: REVIEWED

    Source sequence(s)
    AC006559, AV653197, BC126310, DB185936
    Consensus CDS
    CCDS8690.1
    UniProtKB/Swiss-Prot
    P54840
    Related
    ENSP00000261195.2, ENST00000261195.2
    Conserved Domains (1) summary
    pfam05693
    Location:33658
    Glycogen_syn; Glycogen synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    21531527..21604858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448960.1XP_024304728.1  glycogen [starch] synthase, liver isoform X1

    Conserved Domains (1) summary
    pfam05693
    Location:33658
    Glycogen_syn; Glycogen synthase
  2. XM_006719063.3XP_006719126.1  glycogen [starch] synthase, liver isoform X2

    Conserved Domains (2) summary
    pfam05693
    Location:3581
    Glycogen_syn; Glycogen synthase
    cl10013
    Location:3538
    Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
  3. XM_017019245.2XP_016874734.1  glycogen [starch] synthase, liver isoform X3

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