MGAT2
entrez
4247
canonical
uniprot
Q10469
canonical
ensembl
ENSG00000168282
resolver
ensp
ENSP00000307423
resolver
enst
ENST00000305386
resolver
genesymbol
MGAT2
resolver
hgnc
HGNC:7045
resolver
uniprot
B3KPC5
resolver
uniprot
B3KQM0
resolver
uniprot_entry
MGAT2_HUMAN
resolver
uniprot_sec
B3KPC5
resolver
uniprot_sec
B3KQM0
resolver
amino_acid_sequence
MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSVAVGIRRVSNVSAASLVPAVPQPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEINQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHFVWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSFYGMADKVDVKTWKSTEHNMGLALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLNNNKQYMFPETLTISEKFTVVAISPPRKNGGWGDIRDHELCKSYRRLQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:11228641, ECO:0000269|PubMed:8808595}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.143
uniprot
proteins
function
FUNCTION: Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans. {ECO:0000269|PubMed:11228641, ECO:0000269|PubMed:29666272, ECO:0000269|PubMed:36280670, ECO:0000269|PubMed:8808595}.
uniprot
proteins
mass_dalton
51550
uniprot
proteins
mutagenesis
MUTAGEN 198; /note="R->A: Strongly decreased catalytic activity and affinity for UDP-GlcNAc."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 217; /note="D->A: Nearly abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 259; /note="E->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 294; /note="Y->A: Strongly decreased catalytic activity and affinity for UDP-GlcNAc."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 318; /note="N->A: Strongly decreased catalytic activity and affinity for UDP-GlcNAc."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 344; /note="Y->A: Nearly abolishes catalytic activity and strongly decreases affinity for UDP-GlcNAc."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 346; /note="W->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:29666272"; MUTAGEN 347; /note="D->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:29666272
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:11228641, ECO:0000269|PubMed:29666272, ECO:0000269|PubMed:36280670, ECO:0000269|PubMed:7635144, ECO:0000269|PubMed:8808595}.
uniprot
proteins
protein_family
Glycosyltransferase 16 (GT16) protein family
uniprot
proteins
pubmed
11228641
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20378551
uniprot
proteins
pubmed
29666272
uniprot
proteins
pubmed
36280670
uniprot
proteins
pubmed
7635144
uniprot
proteins
pubmed
8808595
uniprot
proteins
sequence_length
447
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:20378551}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..29; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins