GYS2

Protein identityUniProt · HPA

UniProt accession

P54840

Gene

GYS2

Ensembl

ENSG00000111713

Chromosome

12

Canonical length

703 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

703 residues, UniProt reviewed canonical sequence.

>P54840|GYS2
     1  MLRGRSLSVT SLGGLPQWEV EELPVEELLL FEVAWEVTNK VGGIYTVIQT KAKTTADEWG
    61  ENYFLIGPYF EHNMKTQVEQ CEPVNDAVRR AVDAMNKHGC QVHFGRWLIE GSPYVVLFDI
   121  GYSAWNLDRW KGDLWEACSV GIPYHDREAN DMLIFGSLTA WFLKEVTDHA DGKYVVAQFH
   181  EWQAGIGLIL SRARKLPIAT IFTTHATLLG RYLCAANIDF YNHLDKFNID KEAGERQIYH
   241  RYCMERASVH CAHVFTTVSE ITAIEAEHML KRKPDVVTPN GLNVKKFSAV HEFQNLHAMY
   301  KARIQDFVRG HFYGHLDFDL EKTLFLFIAG RYEFSNKGAD IFLESLSRLN FLLRMHKSDI
   361  TVMVFFIMPA KTNNFNVETL KGQAVRKQLW DVAHSVKEKF GKKLYDALLR GEIPDLNDIL
   421  DRDDLTIMKR AIFSTQRQSL PPVTTHNMID DSTDPILSTI RRIGLFNNRT DRVKVILHPE
   481  FLSSTSPLLP MDYEEFVRGC HLGVFPSYYE PWGYTPAECT VMGIPSVTTN LSGFGCFMQE
   541  HVADPTAYGI YIVDRRFRSP DDSCNQLTKF LYGFCKQSRR QRIIQRNRTE RLSDLLDWRY
   601  LGRYYQHARH LTLSRAFPDK FHVELTSPPT TEGFKYPRPS SVPPSPSGSQ ASSPQSSDVE
   661  DEVEDERYDE EEEAERDRLN IKSPFSLSHV PHGKKKLHGE YKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GYS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

163 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GYS2.

Disease | AllUniProt

Conditions GYS2 is implicated in, by any mechanism.

• Glycogen storage disease 0 (GSD0) MIM:240600

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 379 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycogen storage disorder due to hepatic glycogen synthase deficiency
• Glycogen storage disease
• GYS2-related disorder
• See cases
• Thymoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0

gnomAD missense Z

0.14

DepMap mean gene effect

0.13

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycogen biosynthetic process
• response to glucose

Molecular functions

• alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity
• glycogen synthase activity, transferring glucose-1-phosphate

Cellular components

• cell cortex
• cortical actin cytoskeleton
• cytoplasm
• cytoskeleton
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Glycogen synthase
• Glycogen synthase

KeywordsUniProt

• Allosteric enzyme
• Glycogen biosynthesis
• Glycogen storage disease
• Glycosyltransferase
• Phosphoprotein
• Transferase

InteractionsUniProt · HPA

Protein binding partners of GYS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GYG2