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Protein

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Gene

MGAT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans.

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-(alpha-D-Man-(1->6))-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc-N-Asn-[protein] = UDP + beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-(beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6))-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc-N-Asn-[protein].

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • oligosaccharide biosynthetic process Source: InterPro
  • oligosaccharide metabolic process Source: ProtInc
  • protein N-linked glycosylation Source: ProtInc
  • protein N-linked glycosylation via asparagine Source: Ensembl

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS09725-MONOMER
ReactomeiR-HSA-4793952 Defective MGAT2 causes MGAT2-CDG (CDG-2a)
R-HSA-975578 Reactions specific to the complex N-glycan synthesis pathway
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT16 Glycosyltransferase Family 16

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC:2.4.1.143)
Alternative name(s):
Beta-1,2-N-acetylglucosaminyltransferase II
GlcNAc-T II
Short name:
GNT-II
Mannoside acetylglucosaminyltransferase 2
N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II
Gene namesi
Name:MGAT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000168282.5
HGNCiHGNC:7045 MGAT2
MIMi602616 gene
neXtProtiNX_Q10469

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 9CytoplasmicSequence analysis9
Transmembranei10 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini30 – 447LumenalSequence analysisAdd BLAST418

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2A (CDG2A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:212066
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003415262H → R in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894447EnsemblClinVar.1
Natural variantiVAR_003416290S → F in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894446EnsemblClinVar.1
Natural variantiVAR_012343318N → D in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894448EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi4247
GeneReviewsiMGAT2
MalaCardsiMGAT2
MIMi212066 phenotype
OpenTargetsiENSG00000168282
Orphaneti79329 MGAT2-CDG
PharmGKBiPA30780

Chemistry databases

ChEMBLiCHEMBL2321630

Polymorphism and mutation databases

BioMutaiMGAT2
DMDMi1708004

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000805171 – 447Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseAdd BLAST447

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi86N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ10469
MaxQBiQ10469
PaxDbiQ10469
PeptideAtlasiQ10469
PRIDEiQ10469

PTM databases

iPTMnetiQ10469
PhosphoSitePlusiQ10469

Expressioni

Gene expression databases

BgeeiENSG00000168282
CleanExiHS_MGAT2
GenevisibleiQ10469 HS

Organism-specific databases

HPAiHPA043721
HPA056824

Interactioni

Protein-protein interaction databases

BioGridi110403, 3 interactors
CORUMiQ10469
IntActiQ10469, 1 interactor
STRINGi9606.ENSP00000307423

Chemistry databases

BindingDBiQ10469

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5VCMX-ray1.60A/B29-447[»]
5VCRX-ray1.99A/B29-447[»]
5VCSX-ray2.80A/B29-447[»]
ProteinModelPortaliQ10469
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2791 Eukaryota
ENOG410XPYF LUCA
GeneTreeiENSGT00390000007341
HOVERGENiHBG052467
InParanoidiQ10469
KOiK00736
OMAiRDHELCK
OrthoDBiEOG091G05U3
PhylomeDBiQ10469
TreeFamiTF314772

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR007754 GlcNAc_II
IPR029044 Nucleotide-diphossugar_trans
PANTHERiPTHR12871 PTHR12871, 1 hit
PfamiView protein in Pfam
PF05060 MGAT2, 1 hit
SUPFAMiSSF53448 SSF53448, 2 hits

Sequencei

Sequence statusi: Complete.

Q10469-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRFRIYKRKV LILTLVVAAC GFVLWSSNGR QRKNEALAPP LLDAEPARGA
60 70 80 90 100
GGRGGDHPSV AVGIRRVSNV SAASLVPAVP QPEADNLTLR YRSLVYQLNF
110 120 130 140 150
DQTLRNVDKA GTWAPRELVL VVQVHNRPEY LRLLLDSLRK AQGIDNVLVI
160 170 180 190 200
FSHDFWSTEI NQLIAGVNFC PVLQVFFPFS IQLYPNEFPG SDPRDCPRDL
210 220 230 240 250
PKNAALKLGC INAEYPDSFG HYREAKFSQT KHHWWWKLHF VWERVKILRD
260 270 280 290 300
YAGLILFLEE DHYLAPDFYH VFKKMWKLKQ QECPECDVLS LGTYSASRSF
310 320 330 340 350
YGMADKVDVK TWKSTEHNMG LALTRNAYQK LIECTDTFCT YDDYNWDWTL
360 370 380 390 400
QYLTVSCLPK FWKVLVPQIP RIFHAGDCGM HHKKTCRPST QSAQIESLLN
410 420 430 440
NNKQYMFPET LTISEKFTVV AISPPRKNGG WGDIRDHELC KSYRRLQ
Length:447
Mass (Da):51,550
Last modified:October 1, 1996 - v1
Checksum:i533B76D08BD8A572
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti299S → R in BAG52082 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003415262H → R in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894447EnsemblClinVar.1
Natural variantiVAR_003416290S → F in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894446EnsemblClinVar.1
Natural variantiVAR_012343318N → D in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894448EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U15128 Genomic DNA Translation: AAA86956.1
AK056167 mRNA Translation: BAG51637.1
AK075199 mRNA Translation: BAG52082.1
CH471078 Genomic DNA Translation: EAW65758.1
BC006390 mRNA Translation: AAH06390.1
CCDSiCCDS9690.1
PIRiS66256
RefSeqiNP_002399.1, NM_002408.3
UniGeneiHs.93338

Genome annotation databases

EnsembliENST00000305386; ENSP00000307423; ENSG00000168282
GeneIDi4247
KEGGihsa:4247
UCSCiuc001wwr.4 human

Similar proteinsi

Entry informationi

Entry nameiMGAT2_HUMAN
AccessioniPrimary (citable) accession number: Q10469
Secondary accession number(s): B3KPC5, B3KQM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: May 23, 2018
This is version 171 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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