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MGP001917

Record overview

MGPD IDMGP001917
Gene ID4247
SpeciesHomo sapiens (Human)
Gene Namemannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Gene Symbol MGAT2
SynonymsGNT2; CDG2A; CDGS2; GNT-II; GLCNACTII;
Alternate namesalpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Beta-1,2-N-acetylglucosaminyltransferase II; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II; UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II; glcNAc-T II; mannoside acetylglucosaminyltransferase 2;
Chromosome14
Map Location14q21
EC Number2.4.1.143
SummaryThe product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for MGAT2

Proteins

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Refseq ID:NP_002399
Protein GI:4505163
UniProt ID:Q10469
mRNA ID:NM_002408
Length:447
RefSeq Status:
MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSVAVGIRRVSNVSAASLVPAVPQPEADNLTLRYRSLVYQLNF
DQTLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEINQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDL
PKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHFVWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSF
YGMADKVDVKTWKSTEHNMGLALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLN
NNKQYMFPETLTISEKFTVVAISPPRKNGGWGDIRDHELCKSYRRLQ
 
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