Entity Details

Primary name GYS2
Entity type gene
Source Source Link

Details

PrimaryID2998
RefseqGeneNG_016167
SymbolGYS2
Nameglycogen synthase 2
Chromosome12
Location12p12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-03-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGYS2_HUMAN

GO terms

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GOName
GO:0004373 glycogen (starch) synthase activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005938 cell cortex
GO:0005978 glycogen biosynthetic process
GO:0006091 generation of precursor metabolites and energy
GO:0009749 response to glucose
GO:0030864 cortical actin cytoskeleton
GO:0043265 ectoplasm

Diseases

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Disease IDSourceNameDescription
240600 OMIMGlycogen storage disease 0 (GSD0)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions