EXTL2 Gene Summary [Human]
Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | EXTL2 |
| Official Name | exostosin like glycosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:3516] |
| Ensembl ID | ENSG00000162694 |
| Bio databases IDs | |
| Aliases | exostosin like glycosyltransferase 2, alpha-1,4-N-acteylhexosaminyltransferase |
| Synonyms | 3000001D04Rik, Exl2, exostosin-like glycosyltransferase 2, EXTR2, α 1,4 N-acetylhexosaminyltransferase |
| 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 EXTL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase
- acetylgalactosaminyltransferase
- glucuronyl-galactosyl-proteoglycan
- Glycosyl transferase family 64 domain
- acetylglucosaminyltransferase
- enzyme
- protein binding
- manganese ion binding
- glycosaminoglycan binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- plasma cell neoplasm
- B cell cancer
- mature B-cell neoplasia
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
role in cell
- expression in
- activation in
- production in
- abnormal morphology
- motility
- invasiveness
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
- Extracellular Space
- perinuclear region
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXTL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heparan sulfate proteoglycan biosynthetic process
- UDP-N-acetylgalactosamine metabolic process
- N-acetylglucosamine metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytosol
- endoplasmic reticulum
- extracellular region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
- glycosaminoglycan binding
- manganese ion binding
- glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
- alpha-1,4-N-acetylgalactosaminyltransferase activity