Literature summary for 2.4.1.313 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

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

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
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]	-	?
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]	-	?

Organism	UniProt	Comment	Textmining
Danio rerio	-	-	-
Homo sapiens	-	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-
fibroblast	-	Danio rerio	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
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]	-	?
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]	-	?

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

General Information	Comment	Organism
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
malfunction	mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan	Homo sapiens
metabolism	the enzyme is involved in the functional glycosylation of alpha-dystroglycan	Homo sapiens
metabolism	the enzyme is involved in the functional glycosylation of alpha-dystroglycan	Danio rerio