Entity Details

Primary name GYS2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP54840
EntryNameGYS2_HUMAN
FullNameGlycogen [starch] synthase, liver
TaxID9606
Evidenceevidence at protein level
Length703
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesGYS2

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR008631 Glycogen synthaseFamilyFamily

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

4 interactions

InteractorPartnerSourcesPublicationsLink
GYS2_HUMANTNR1A_HUMANBioGRID, IntAct21988832 details
GYS2_HUMANGLYG2_HUMANBioGRID, IntAct21988832 details
GYS2_HUMANP53_HUMANBioGRID30584071 details
GYS2_HUMANMDM2_HUMANBioGRID30584071 details