Literature summary extracted from

Stevens, E.; Carss, K.J.; Cirak, S.; Foley, A.R.; Torelli, S.; Willer, T.; Tambunan, D.E.; Yau, S.; Brodd, L.; Sewry, C.A.; Feng, L.; Haliloglu, G.; Orhan, D.; Dobyns, W.B.; Enns, G.M.; Manning, M.; Krause, A.; Salih, M.A.; Walsh, C.A.; Hurles, M.; Campbell, K.P.; Manzini, M.C.; Manzini, M.C.; Stemple, D.; Lin, Y.Y.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan (2013), Am. J. Hum. Genet., 92, 354-365.

Localization

EC Number	Localization	Comment	Organism	GeneOntology No.	Textmining
2.4.1.313	endoplasmic reticulum	-	Homo sapiens	5783	-
2.4.1.313	endoplasmic reticulum	-	Danio rerio	5783	-

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
2.4.1.313	UDP-N-acetyl-alpha-D-galactosamine + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	Homo sapiens	-	UDP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	?
2.4.1.313	UDP-N-acetyl-alpha-D-galactosamine + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	Danio rerio	-	UDP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	?

EC Number	Organism	UniProt	Comment	Textmining
2.4.1.313	Danio rerio	-	-	-
2.4.1.313	Homo sapiens	-	-	-

EC Number	Source Tissue	Comment	Organism	Textmining
2.4.1.313	fibroblast	-	Homo sapiens	-
2.4.1.313	fibroblast	-	Danio rerio	-

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
2.4.1.313	UDP-N-acetyl-alpha-D-galactosamine + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	Homo sapiens	UDP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	?
2.4.1.313	UDP-N-acetyl-alpha-D-galactosamine + 3-O-[N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	Danio rerio	UDP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	?

EC Number	Synonyms	Comment	Organism
2.4.1.313	B3GALNT2	-	Homo sapiens
2.4.1.313	B3GALNT2	-	Danio rerio
2.4.1.313	beta-1,3-N-acetylgalactosaminyltransferase 2	-	Homo sapiens
2.4.1.313	beta-1,3-N-acetylgalactosaminyltransferase 2	-	Danio rerio

EC Number	General Information	Comment	Organism
2.4.1.313	malfunction	knockdown of b3galnt2 in zebrafish recapitulates the human congenital muscular dystrophy phenotype with reduced motility, brain abnormalities, and disordered muscle fibers with evidence of damage to both the myosepta and the sarcolemma. Functional dystroglycan glycosylation is also reduced	Danio rerio
2.4.1.313	malfunction	mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan	Homo sapiens
2.4.1.313	metabolism	the enzyme is involved in the functional glycosylation of alpha-dystroglycan	Homo sapiens
2.4.1.313	metabolism	the enzyme is involved in the functional glycosylation of alpha-dystroglycan	Danio rerio