InnateDB Protein
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IDBP-107557.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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B3GALNT2
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Protein Name
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beta-1,3-N-acetylgalactosaminyltransferase 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000315678
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InnateDB Gene
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IDBG-107551 (B3GALNT2)
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Protein Structure
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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}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000269PubMed:23453667}.
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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.
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Tissue Specificity |
Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary. {ECO:0000269PubMed:14724282}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0008375
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acetylglucosaminyltransferase activity
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GO:0008376
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acetylgalactosaminyltransferase activity
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GO:0008378
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galactosyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NCR0
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PhosphoSite |
PhosphoSite-Q8NCR0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
148789
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UniGene |
Hs.743413
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RefSeq |
NP_001264084
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HUGO |
HGNC:28596
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OMIM |
610194
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CCDS |
CCDS60453
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HPRD |
16533
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IMGT |
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EMBL |
AB209046
AL135928
BC016974
BC029564
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GenPept |
AAH16974
AAH29564
BAD92283
CAI21727
CAI21728
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