GYS2 Gene 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]
Details
| Type | Protein Coding |
| Official Symbol | GYS2 |
| Official Name | glycogen synthase 2 [Source:HGNC Symbol;Acc:HGNC:4707] |
| Ensembl ID | ENSG00000111713 |
| Bio databases IDs | |
| Aliases | glycogen synthase 2 |
| Synonyms | Glycogen Synthase 2,GLYSN,Gsa,LGS |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycosyltransferase family 1 and related proteins with GTB topology
- phosphotransferase
- glucose binding
- glycogen(starch) synthase
- enzyme
- protein binding
- Glycogen synthase
Pathways
Biological processes and signaling networks where the GYS2 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- cough
- non-insulin-dependent diabetes mellitus
- ischemic stroke
- eosinophilic esophagitis
- liver cancer
- epithelial cancer
- liver glycogen storage disease type 0
- glycogen storage disease, hepatic form
- glycogen storage disease
regulated by
- streptozocin
- insulin
- D-glucose
- sirolimus
- deoxycholate
- taurocholic acid
- LY294002
- NR3C1
- S 4048
- methapyrilene
role in cell
- activation in
- lipogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cortical actin cytoskeleton
- cytoskeleton
- cell cortex
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GYS2 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- glycogen biosynthetic process
- response to glucose stimulus
cellular COMPONENT
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- cell cortex
- cytosol
- cortical actin cytoskeleton
molecular FUNCTION
What the gene product does at the molecular level
- glycogen (starch) synthase activity