Aliases for B3GALNT2 Gene
External Ids for B3GALNT2 Gene
Previous GeneCards Identifiers for B3GALNT2 Gene
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]
GeneCards Summary for B3GALNT2 Gene
B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GALNT2 include Muscular Dystrophy-Dystroglycanopathy , Type A, 11 and Muscle Eye Brain Disease. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and acetylgalactosaminyltransferase activity. An important paralog of this gene is B3GALT6.
UniProtKB/Swiss-Prot for B3GALNT2 Gene
Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.