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 (congenital with brain and eye anomalies, type a, 11 and muscle eye brain disease. 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.