Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2998
Gene name	Glycogen synthase 2
Gene symbol	GYS2
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12p12.1
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 glyc

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs117639846	C>G	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918419	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs121918421	C>G	Pathogenic	Coding sequence variant, missense variant
rs121918423	T>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs121918424	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918425	G>C,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs146195866	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs150382575	G>A,T	Pathogenic, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs201157731	G>A	Pathogenic	Stop gained, coding sequence variant
rs267603422	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs372079212	C>A	Pathogenic	Splice donor variant
rs587776831	C>G,T	Pathogenic	Splice donor variant
rs746120293	CACAGTATAGATGCCTCCAACTGTTAAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, upstream transcript variant, splice acceptor variant
rs764539267	C>T	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs766733439	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs771205749	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs781511110	C>A	Likely-pathogenic	Splice donor variant
rs863224039	A>G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064793142	T>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064793143	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1307281520	G>-	Pathogenic	Coding sequence variant, stop gained
rs1555156695	AAGTCTTTTCAAGATCAAAGTCGAGATGACTAAAACAAAACAAAACCAAACAGTTTCAAATGAAATACAGCAACA>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032359	hsa-let-7b-5p	Proteomics	18668040
MIRT649853	hsa-miR-4423-3p	HITS-CLIP	23824327
MIRT649852	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT649851	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT649850	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT649849	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649848	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649847	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT649853	hsa-miR-4423-3p	HITS-CLIP	23824327
MIRT649852	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT649851	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT649850	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT649849	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649848	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649847	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT1039029	hsa-miR-130a	CLIP-seq
MIRT1039030	hsa-miR-130b	CLIP-seq
MIRT1039031	hsa-miR-181a	CLIP-seq
MIRT1039032	hsa-miR-181b	CLIP-seq
MIRT1039033	hsa-miR-181c	CLIP-seq
MIRT1039034	hsa-miR-181d	CLIP-seq
MIRT1039035	hsa-miR-196a	CLIP-seq
MIRT1039036	hsa-miR-196b	CLIP-seq
MIRT1039037	hsa-miR-301a	CLIP-seq
MIRT1039038	hsa-miR-301b	CLIP-seq
MIRT1039039	hsa-miR-3666	CLIP-seq
MIRT1039040	hsa-miR-3927	CLIP-seq
MIRT1039041	hsa-miR-4262	CLIP-seq
MIRT1039042	hsa-miR-4295	CLIP-seq
MIRT1039043	hsa-miR-454	CLIP-seq
MIRT1039044	hsa-miR-4671-3p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	EXP	9691087
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IBA
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IDA	1731614
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IEA
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IMP	9691087
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	ISS
GO:0005938	Component	Cell cortex	ISS
GO:0005978	Process	Glycogen biosynthetic process	IBA
GO:0005978	Process	Glycogen biosynthetic process	IDA	1731614
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	IMP	9691087
GO:0005978	Process	Glycogen biosynthetic process	ISS
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0009749	Process	Response to glucose	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030864	Component	Cortical actin cytoskeleton	ISS
GO:0061547	Function	Glycogen synthase activity, transferring glucose-1-phosphate	IEA
GO:0061547	Function	Glycogen synthase activity, transferring glucose-1-phosphate	TAS

MIM	HGNC	e!Ensembl
138571	4707	ENSG00000111713

P54840

Protein name

Glycogen [starch] synthase, liver (EC 2.4.1.11) (Glycogen synthase 2)

Protein function

Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05693	Glycogen_syn	32 → 667	Glycogen synthase	Family

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in liver (at protein level). {ECO:0000269|PubMed:1731614}.

Sequence

MLRGRSLSVTSLGGLPQWEVEELPVEELLLFEVAWEVTNKVGGIYTVIQTKAKTTADEWG
ENYFLIGPYFEHNMKTQVEQCEPVNDAVRRAVDAMNKHGCQVHFGRWLIEGSPYVVLFDI
GYSAWNLDRWKGDLWEACSVGIPYHDREANDMLIFGSLTAWFLKEVTDHADGKYVVAQFH
EWQAGIGLILSRARKLPIATIFTTHATLLGRYLCAANIDFYNHLDKFNIDKEAGERQIYH
RYCMERASVHCAHVFTTVSEITAIEAEHMLKRKPDVVTPNGLNVKKFSAVHEFQNLHAMY
KARIQDFVRGHFYGHLDFDLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSDI
TVMVFFIMPAKTNNFNVETLKGQAVRKQLWDVAHSVKEKFGKKLYDALLRGEIPDLNDIL
DRDDLTIMKRAIFSTQRQSLPPVTTHNMIDDSTDPILSTIRRIGLFNNRTDRVKVILHPE
FLSSTSPLLPMDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSVTTNLSGFGCFMQE
HVADPTAYGIYIVDRRFRSPDDSCNQLTKFLYGFCKQSRRQRIIQRNRTERLSDLLDWRY
LGRYYQHARHLTLSRAFPDKFHVELTSPPTTEGFKYPRPSSVPPSPSGSQASSPQSSDVE
DEVEDERYDEEEEAERDRLNIKSPFSLSHVPHGKKKLHGEYKN

Sequence length

703

Interactions

View interactions

	KEGG		Reactome
	Starch and sucrose metabolism Metabolic pathways PI3K-Akt signaling pathway AMPK signaling pathway Insulin signaling pathway Glucagon signaling pathway Insulin resistance Diabetic cardiomyopathy		Glycogen synthesis Glycogen storage disease type 0 (liver GYS2) Glycogen storage disease type IV (GBE1)

250

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glycogen storage disease	Likely pathogenic; Pathogenic	rs121918419, rs771205749	RCV000605157 RCV000826208
Glycogen storage disorder due to hepatic glycogen synthase deficiency	Likely pathogenic; Pathogenic	rs2136913413, rs2136877292, rs763671258, rs1199090828, rs756685797, rs150382575, rs201157731, rs2540534282, rs752819982, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423 View all (10 more)	RCV005005983 RCV001783411 RCV002470458 RCV003085721 RCV003078418 RCV000763305 RCV000763306 RCV003010136 RCV003145968 RCV000017427 RCV000017428 RCV000017429 RCV000017430 RCV000017431 RCV000017432 RCV000017433 RCV003990899 RCV000454295 RCV002532435 RCV000690083 RCV000686631 RCV005362011 RCV000704439 RCV000823292 RCV001206520
GYS2-related disorder	Likely pathogenic; Pathogenic	rs764833435, rs121918419, rs781511110	RCV003408810 RCV003944826 RCV003892530
See cases	Likely pathogenic; Pathogenic	rs121918419, rs372079212	RCV002251909 RCV002252252
Thymoma	Likely pathogenic; Pathogenic	rs121918419	RCV005887533

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs3765091, rs73238708	RCV005919934 RCV005894139
Gastric cancer	Benign	rs3765091	RCV005919935
Hepatocellular carcinoma	Benign	rs7977474	RCV005894138
Malignant tumor of esophagus	Benign; Likely benign	rs150691568	RCV005894137
Schizophrenia	Uncertain significance	rs2540546860	RCV002463511

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	37247276
Carcinoma Hepatocellular	Inhibit	32987529
Cholangiocarcinoma	Inhibit	34783271
Diabetes Mellitus Type 2	Associate	20051115
Disease	Associate	34783271
Epilepsy	Associate	37574425
Glucose Intolerance	Associate	20051115
Glycogen Storage Disease	Associate	37574425
Glycogen Storage Disease 0 Muscle	Associate	20051115, 29961766, 30968641
Hyperglycemia	Associate	20051115, 30968641
Hypoglycemia	Associate	20051115, 30968641, 37574425
Lymphatic Metastasis	Inhibit	34783271
Metabolic Diseases	Associate	20051115
Muscular dystrophy congenital with central nervous system involvement	Associate	37574425
Neoplasms	Inhibit	32987529
Neoplasms	Associate	34783271
Parkinsonian Disorders	Associate	19761607
Seizures	Associate	37574425

GYS2 (glycogen synthase 2)