• Gene id: 2998

Gene Summary

• Gene Symbol: GYS2   Gene   UCSC   Ensembl
• Gene name: glycogen synthase 2
• Alternate names: glycogen [starch] synthase, liver, glycogen synthase 2 (liver),
• Gene location: 12p12.1 (21604857: 21531526)     Exons: 19     NC_000012.12
• Gene summary(Entrez): 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 glyc
• OMIM: 138571

Protein Summary

• Protein general information: P54840  
  • Name: Glycogen [starch] synthase, liver (EC 2.4.1.11)
  • Length: 703  
  • Mass: 80989
• Sequence:

  MLRGRSLSVTSLGGLPQWEVEELPVEELLLFEVAWEVTNKVGGIYTVIQTKAKTTADEWGENYFLIGPYFEHNMK
  TQVEQCEPVNDAVRRAVDAMNKHGCQVHFGRWLIEGSPYVVLFDIGYSAWNLDRWKGDLWEACSVGIPYHDREAN
  DMLIFGSLTAWFLKEVTDHADGKYVVAQFHEWQAGIGLILSRARKLPIATIFTTHATLLGRYLCAANIDFYNHLD
  KFNIDKEAGERQIYHRYCMERASVHCAHVFTTVSEITAIEAEHMLKRKPDVVTPNGLNVKKFSAVHEFQNLHAMY
  KARIQDFVRGHFYGHLDFDLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSDITVMVFFIMPAKTNNF
  NVETLKGQAVRKQLWDVAHSVKEKFGKKLYDALLRGEIPDLNDILDRDDLTIMKRAIFSTQRQSLPPVTTHNMID
  DSTDPILSTIRRIGLFNNRTDRVKVILHPEFLSSTSPLLPMDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIP
  SVTTNLSGFGCFMQEHVADPTAYGIYIVDRRFRSPDDSCNQLTKFLYGFCKQSRRQRIIQRNRTERLSDLLDWRY
  LGRYYQHARHLTLSRAFPDKFHVELTSPPTTEGFKYPRPSSVPPSPSGSQASSPQSSDVEDEVEDERYDEEEEAE
  RDRLNIKSPFSLSHVPHGKKKLHGEYKN

• Structural information:
  • Interpro: IPR008631  
  • CDD: cd03793
  • STRING: ENSP00000261195
• Other Databases: GeneCards:  GYS2  Malacards:  GYS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005978	glycogen biosynthetic process	IBA	biological process
GO:0004373	glycogen (starch) synthase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0004373	glycogen (starch) synthase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0004373	glycogen (starch) synthase activity	IEA	molecular function
GO:0004373	glycogen (starch) synthase activity	EXP	molecular function
GO:0061547	glycogen synthase activity, transferring glucose-1-phosphate	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005978	glycogen biosynthetic process	TAS	biological process
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0004373	glycogen (starch) synthase activity	IDA	molecular function
GO:0005978	glycogen biosynthetic process	IDA	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0030864	cortical actin cytoskeleton	ISS	cellular component
GO:0004373	glycogen (starch) synthase activity	ISS	molecular function
GO:0043265	ectoplasm	ISS	cellular component
GO:0005856	cytoskeleton	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005978	glycogen biosynthetic process	ISS	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04151	PI3K-Akt signaling pathway
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa00500	Starch and sucrose metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type 0a	KEGG:H01950
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type 0a	KEGG:H01950
Glycogen storage disease	PMID:9691087
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray