InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B3GALNT2

Summary

InnateDB Protein

IDBP-107553.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

B3GALNT2

Protein Name

beta-1,3-N-acetylgalactosaminyltransferase 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000355559

InnateDB Gene

IDBG-107551 (B3GALNT2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:14724282, ECO:0000269PubMed:23453667, ECO:0000269PubMed:23929950}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000269PubMed:23453667}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]: 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. {ECO:0000269PubMed:23453667}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary. {ECO:0000269PubMed:14724282}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008375	acetylglucosaminyltransferase activity
GO:0008376	acetylgalactosaminyltransferase activity
GO:0008378	galactosyltransferase activity