POFUT2 Gene Summary [Human]
Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
Details
| Type | Processed Transcript |
| Official Symbol | POFUT2 |
| Official Name | protein O-fucosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:14683] |
| Ensembl ID | ENSG00000186866 |
| Bio databases IDs | |
| Aliases | protein O-fucosyltransferase 2, peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 2 |
| Synonyms | 2310011G23Rik, C21orf80, FUT13, protein O-fucosyltransferase 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 POFUT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptide-O-fucosyltransferase
- GDP-fucose protein O-fucosyltransferase and related proteins
- GDP-fucose protein O-fucosyltransferase
- fucosyltransferase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Golgi Apparatus
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POFUT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of epithelial to mesenchymal transition
- regulation of secretion
- protein O-linked fucosylation
- regulation of gene expression
- mesoderm formation
- fucose metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- peptide-O-fucosyltransferase activity