Free for academic non-profit institutions. Other users need a Commercial license
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 (Glycogen Synthase 2) is a Protein Coding gene. Diseases associated with GYS2 include Glycogen Storage Disease 0, Liver and Glycogen Storage Disease. Among its related pathways are Activation of cAMP-Dependent PKA and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and glycogen synthase activity, transferring glucose-1-phosphate. An important paralog of this gene is GYS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004373 | glycogen (starch) synthase activity | IBA,ISS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0061547 | glycogen synthase activity, transferring glucose-1-phosphate | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | ISS | -- |
GO:0005938 | cell cortex | ISS | -- |
GO:0030864 | cortical actin cytoskeleton | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism | ||
2 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
3 | Galactose metabolism |
Galactose metabolism
.38
|
Glycogen metabolism
.01
|
4 | Diseases of carbohydrate metabolism | ||
5 | AMP-activated Protein Kinase (AMPK) Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005978 | glycogen biosynthetic process | TAS | -- |
GO:0006091 | generation of precursor metabolites and energy | TAS | 9691087 |
GO:0008152 | metabolic process | IEA | -- |
GO:0009749 | response to glucose | ISS | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GYS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GYS2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GYS2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GYS2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gys2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gys2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GYS2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GYS2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GYS2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | gys2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6904 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y46G5A.31 32 |
|
|
|
gsy-1 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GSY1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.9691 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
648650 | Uncertain Significance: Glycogen storage disease due to hepatic glycogen synthase deficiency | 21,540,547(-) | G/A | MISSENSE_VARIANT | |
653240 | Uncertain Significance: Glycogen storage disease due to hepatic glycogen synthase deficiency | 21,540,445(-) | G/C | MISSENSE_VARIANT | |
658693 | Uncertain Significance: Glycogen storage disease due to hepatic glycogen synthase deficiency | 21,537,160(-) | A/G | MISSENSE_VARIANT | |
665082 | Pathogenic: Glycogen storage disease due to hepatic glycogen synthase deficiency | 21,575,865(-) | C/A | SPLICE_DONOR_VARIANT | |
665936 | Uncertain Significance: Glycogen storage disease due to hepatic glycogen synthase deficiency | 21,604,543(-) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2745623 | CNV | deletion | 23290073 |
nsv1037727 | CNV | loss | 25217958 |
nsv1051012 | CNV | loss | 25217958 |
nsv1054220 | CNV | gain | 25217958 |
nsv557741 | CNV | gain | 21841781 |
nsv557744 | CNV | loss | 21841781 |
nsv557745 | CNV | loss | 21841781 |
nsv832349 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease 0, liver |
|
|
glycogen storage disease |
|
|
glycogen storage disease type 0 |
|
|
hypoglycemia |
|
|
fasting hypoglycemia |
|
|