B3GALNT2 gene

beta-1,3-N-acetylgalactosaminyltransferase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

From UniProt:

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11): An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [MIM:615181]

Cytogenetic Location: 1q42.3, which is the long (q) arm of chromosome 1 at position 42.3

Molecular Location: base pairs 235,440,654 to 235,504,481 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.3, which is the long (q) arm of chromosome 1 at position 42.3
  • B3GalNAc-T2
  • MDDGA11