GYS2 - glycogen synthase 2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2998

About GYS2

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:21,532,577-21,604,847 (from NCBI)

This gene has 1 transcript (splice variant), 206 orthologues, 1 paralogue and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 35.4).

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 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]

GYS2 Products (1)

mRNA	Protein	Name
NM_021957.4	NP_068776.2	glycogen [starch] synthase, liver

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	EXP EXP: Inferred from Experiment	9691087	GOA
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IDA IDA: Inferred from direct assay	1731614	GOA
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IMP IMP: Inferred from mutant phenotype	9691087	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycogen biosynthetic process	IDA IDA: Inferred from direct assay	1731614	GOA
involved in glycogen biosynthetic process	IMP IMP: Inferred from mutant phenotype	9691087	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GYS2 Protein Structure

Glycogen_syn

0
200
400
600
703 a.a.

Protein Preferred Names	Protein Names
glycogen [starch] synthase, liver	glycogen synthase 2 (liver)

Related Diseases

Diseases	Alias
Glycogen Storage Disease 0, Liver	Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver Liver Glycogen Synthase Deficiency Liver Glycogen Storage Disease 0 Glycogen Storage Disorder Due To Hepatic Glycogen Synthase Deficiency GSD0A Gsd 0a Glycogen Storage Disease Type 0, Liver Hepatic Glycogen Synthase Deficiency Liver Gsd 0 Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency Gsd Due To Hepatic Glycogen Synthase Deficiency Gsd Type 0a Glycogen Storage Disease Due To Liver Glycogen Synthase Deficiency Glycogen Storage Disease Type 0a Glycogenosis Type 0a Glycogen Storage Disease 0 GSD0 Glycogen Storage Disease, Type 0, Liver
Glycogen Storage Disease Type 0	Glycogen Synthase Deficiency Glycogen Storage Disease 0 Glycogen Synthetase Deficiency Gsd 0 Gsd Type 0 Hypoglycemia With Deficiency Of Glycogen Synthetase
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Glycogen Storage Disease Ixa	Glycogen Storage Disease Type 9a Glycogen Storage Disease Type Ixa Glycogenosis Type 9a Glycogenosis Type Ixa Gsd Type 9a Gsd Type Ixa Gsd9a
Glycogen Storage Disease Ix
Glycogen Storage Disease Vi	Glycogen Storage Disease Type Vi Hers Disease GSD6 Gsd Vi Hepatic Glycogen Phosphorylase Deficiency Phosphorylase Deficiency Glycogen-Storage Disease Of Liver Hers' Disease Glycogen Storage Disease Type 6 Glycogen Storage Disease 6 Gsd Type Vi Glycogenosis Type Vi Glycogen Storage Disease, Type Vi Hepatophosphorylase Deficiency Glycogenosis Liver Phosphorylase Deficiency Syndrome Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency Gsd Due To Liver Glycogen Phosphorylase Deficiency Gsd Type 6 Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency Glycogenosis Type 6 Hepatic Phosphorylase Deficiency Liver Glycogen Phosphorylase Deficiency Her Glycogen Storage Disease Vib Gsd-Vi Liver Phosphorylase Deficiency Storage Disease, Glycogen, Type Vi
Glycogen Storage Disease Iii	Glycogen Storage Disease Type Iii Forbes Disease Cori Disease Glycogen Storage Disease Iiia Amylo-1,6-Glucosidase Deficiency Glycogen Storage Disease Iiib Limit Dextrinosis GSD3 Agl Deficiency Glycogen Debrancher Deficiency Gde Deficiency Glycogen Storage Disease Iiic Debrancher Deficiency Glycogen Storage Disease Type 3 Glycogenosis Type Iii Glycogen Storage Disease Iiid Amylo 1,6 Glucosidase Deficiency Deficiency Of Debranching Enzyme Deficiency Of Dextrin Glycogen Storage Disease, Type Iii Glycogen Debranching Enzyme Deficiency Cori'S Disease Gsd Iii Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Cori-Forbes Disease Gsd Due To Glycogen Debranching Enzyme Deficiency Gsd Type 3 Gsdiii Glycogenosis Due To Glycogen Debranching Enzyme Deficiency Glycogenosis Type 3 Glycogen Storage Disease 3 Glycogen Debranching Enzyme Deficiency Gsd-Iii Gsd Iiia Gsd Iiib Gsd Iiic Gsd Iiid Storage Disease, Glycogen, Type Iii
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia
Glycogen Storage Disease Iv	Gsd Iv Glycogen Branching Enzyme Deficiency Andersen Disease Amylopectinosis Glycogen Storage Disease Type Iv GSD4 Brancher Deficiency Glycogen Storage Disease, Type Iv Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gbe1 Deficiency Glycogenosis Iv Cirrhosis, Familial, With Deposition Of Abnormal Glycogen Glycogen Storage Disease Type 4 Glycogenosis 4 Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features Andersen'S Disease Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Brancher Deficiency Glycogenosis Branching-Transferase Deficiency Glycogenosis Deficiency Of 1,4-Alpha-Glucan Branching Enzyme Andersen-Tawil Syndrome Gsd 4 Andersen Cardiodysrhythmic Periodic Paralysis Lqt7 Long Qt Syndrome 7 Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Andersen Glycogenosis Branching Enzyme Deficiency Glycogenosis, Type Iv Gsd Type Iv Type Iv Glycogenosis Gbe Deficiency, Childhood Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Gsd Type 4, Childhood Neuromuscular Form Gsdiv, Childhood Neuromuscular Form Glycogen Storage Disease Type 4, Childhood Neuromuscular Form Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogenosis Type 4, Childhood Neuromuscular Form Glycogenosis Type Iv, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gbe Deficiency, Adult Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gsd Type 4, Adult Neuromuscular Form Gsdiv, Adult Neuromuscular Form Glycogen Storage Disease Type 4, Adult Neuromuscular Form Glycogen Storage Disease Type Iv, Adult Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Glycogenosis Type 4, Adult Neuromuscular Form Glycogenosis Type Iv, Adult Neuromuscular Form Gbe Deficiency, Congenital Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gsd Type 4, Congenital Neuromuscular Form Gsdiv, Congenital Neuromuscular Form Glycogen Storage Disease Type 4, Congenital Neuromuscular Form Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Glycogenosis Type 4, Congenital Neuromuscular Form Glycogenosis Type Iv, Congenital Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Type 4, Childhood Combined Hepatic And Myopathic Form Gsdiv, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Fatal Perinatal Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Gsd Type 4, Fatal Perinatal Neuromuscular Form Gsdiv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gbe Deficiency, Non Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gsd Type 4, Non Progressive Hepatic Form Gsdiv, Non Progressive Hepatic Form Glycogen Storage Disease Type 4, Non Progressive Hepatic Form Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Glycogenosis Type 4, Non Progressive Hepatic Form Glycogenosis Type Iv, Non Progressive Hepatic Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gbe Deficiency, Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gsd Type 4, Progressive Hepatic Form Gsdiv, Progressive Hepatic Form Glycogen Storage Disease Type 4, Progressive Hepatic Form Glycogen Storage Disease Type Iv, Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Glycogenosis Type 4, Progressive Hepatic Form Glycogenosis Type Iv, Progressive Hepatic Form Glycogen Storage Disease 4 Gsd-Iv Storage Disease, Glycogen, Type Iv
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05937	GYS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GYS2	RGD	RGD:2773
Canis familiaris	GYS2	VGNC	VGNC:41575
Bos taurus	GYS2	VGNC	VGNC:29731
Mus musculus	GYS2	MGD	MGI:2385254
Macaca mulatta	GYS2	VGNC	VGNC:73335
Felis catus	GYS2	VGNC	VGNC:67525
Others	GYS2	NCBI