B3GALNT2 Gene Summary [Human]
This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
Details
| Type | Protein Coding |
| Official Symbol | B3GALNT2 |
| Official Name | beta-1,3-N-acetylgalactosaminyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:28596] |
| Ensembl ID | ENSG00000162885 |
| Bio databases IDs | |
| Aliases | beta-1,3-N-acetylgalactosaminyltransferase 2 |
| Synonyms | A930105D20Rik, B3GalNAc-T2, beta-1,3-N-acetylgalactosaminyltransferase 2, beta 3 GALNAC-T2, D230016N13Rik, IMAGE:4393885, MDDGA11, RGD1306946, UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2, UDP-GalNAc:betaGlcNAc β 1,3-galactosaminyltransferase, polypeptide 2, β-1,3-N-acetylgalactosaminyltransferase 2, β 3 GALNAC-T2 |
| 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 B3GALNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- acetylgalactosaminyltransferase
- galactosyltransferase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A11
- hereditary disorder
- muscular dystrophy-dystroglycanopathy
regulates
- UDP-N-acetyl-D-galactosamine
- N-acetylglucosamine
role in cell
- activation
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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B3GALNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein O-linked glycosylation
- protein glycosylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- UDP-glycosyltransferase activity
- protein binding
- acetylgalactosaminyltransferase activity