GFPT2 Gene Summary [Human]
Predicted to enable glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Predicted to be involved in UDP-N-acetylglucosamine metabolic process; fructose 6-phosphate metabolic process; and protein N-linked glycosylation. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cytosol. Implicated in type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | GFPT2 |
| Official Name | glutamine-fructose-6-phosphate transaminase 2 [Source:HGNC Symbol;Acc:HGNC:4242] |
| Ensembl ID | ENSG00000131459 |
| Bio databases IDs | |
| Aliases | glutamine-fructose-6-phosphate transaminase 2, glutamine: fructose-6-phosphate aminotransferase 2 |
| Synonyms | GFAT, GFAT 2, glutamine-fructose-6-phosphate transaminase 2 |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human GFPT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SIS
- glucosamine--fructose-6-phosphate aminotransferase (isomerizing)
- SIS domain
- enzyme
- protein binding
- glutamine-fructose-6-phosphate transaminase (isomerizing)
- Gn_AT_II
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- organismal death
- Marfan syndrome
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
role in cell
- expression in
- growth
- invasion by
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GFPT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- energy reserve metabolic process
- fructose 6-phosphate metabolic process
- glutamine metabolic process
- UDP-N-acetylglucosamine metabolic process
- protein N-linked glycosylation
- UDP-N-acetylglucosamine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- glutamine-fructose-6-phosphate transaminase (isomerizing) activity