B4GALNT2 Gene Summary [Human]
B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | B4GALNT2 |
| Official Name | beta-1,4-N-acetyl-galactosaminyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:24136] |
| Ensembl ID | ENSG00000167080 |
| Bio databases IDs | |
| Aliases | beta-1,4-N-acetyl-galactosaminyltransferase 2 |
| Synonyms | AI593864, B4GALT, beta-1,4-N-acetyl-galactosaminyl transferase 2, beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group), Dlb-1, Galg2, GALGT2, Ggm3, Igf2bp1, β-1,4-N-acetyl-galactosaminyl transferase 2, β-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) |
| 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 B4GALNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl transferase family 2
- acetylgalactosaminyltransferase
- enzyme
- protein binding
- glycosyltransferase family A
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- coronary artery disease
- lung adenocarcinoma
- lung adenocarcinoma formation
- Sd(a) polyagglutination syndrome
role in cell
- number
- damage
- centralization
- abnormal number
- centralization in
- adhesion
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 membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B4GALNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- UDP-N-acetylgalactosamine metabolic process
- negative regulation of cell-cell adhesion
- UDP-N-acetylglucosamine metabolic process
- protein N-linked glycosylation via asparagine
- oligosaccharide biosynthetic process
- protein import
- lipid glycosylation
- skeletal muscle tissue regeneration
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- acetylgalactosaminyltransferase activity