XYLT2 Gene Summary [Human]
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | XYLT2 |
| Official Name | xylosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:15517] |
| Ensembl ID | ENSG00000015532 |
| Bio databases IDs | |
| Aliases | xylosyltransferase 2, protein xylosyltransferase 2 |
| Synonyms | E030002B02Rik, PXYLT2, SOS, XT2, XT-II, xylosyltransferase 2, xylosyltransferase II, xylT-II |
| 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 XYLT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Core-2/I-Branching enzyme
- Xylosyltransferase C terminal
- protein xylosyltransferase
- enzyme
- manganese ion binding
- magnesium ion binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- fibrosis
- polycystic liver disease
- hyperplasia
- pseudoxanthoma elasticum
- spondyloocular syndrome
- polycystic kidney disease
- hydronephrosis
role in cell
- formation
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
- cellular membrane
- Golgi Apparatus
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XYLT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chondroitin sulfate biosynthetic process
- chondroitin sulfate proteoglycan biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
- glycosaminoglycan biosynthetic process
- heparin biosynthetic process
- glycosaminoglycan metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- manganese ion binding
- protein xylosyltransferase activity