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Entry version 180 (18 Sep 2019)
Sequence version 1 (01 Oct 1996)
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Protein

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

Gene

MGAT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.4 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei154SubstrateCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi261ManganeseCombined sources1 Publication1
Binding sitei298SubstrateCombined sources1 Publication1
Metal bindingi374ManganeseCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS09725-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-4793952 Defective MGAT2 causes MGAT2-CDG (CDG-2a)
R-HSA-975578 Reactions specific to the complex N-glycan synthesis pathway

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT16 Glycosyltransferase Family 16

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC:2.4.1.1433 Publications)
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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MGAT2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7045 MGAT2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602616 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q10469

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 9CytoplasmicSequence analysis9
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei10 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini30 – 447LumenalSequence analysisAdd BLAST418

Keywords - Cellular componenti

Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003415262H → R in CDG2A; strongly reduced protein levels; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs104894447EnsemblClinVar.1
Natural variantiVAR_003416290S → F in CDG2A; strongly reduced protein levels; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs104894446EnsemblClinVar.1
Natural variantiVAR_012343318N → D in CDG2A. 1 PublicationCorresponds to variant dbSNP:rs104894448EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi198R → A: Strongly decreased catalytic activity and affinity for UDP-GlcNAc. 1 Publication1
Mutagenesisi217D → A: Nearly abolishes catalytic activity. 1 Publication1
Mutagenesisi259E → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi294Y → A: Strongly decreased catalytic activity and affinity for UDP-GlcNAc. 1 Publication1
Mutagenesisi318N → A: Strongly decreased catalytic activity and affinity for UDP-GlcNAc. 1 Publication1
Mutagenesisi344Y → A: Nearly abolishes catalytic activity and strongly decreases affinity for UDP-GlcNAc. 1 Publication1
Mutagenesisi346W → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi347D → A: Loss of catalytic activity. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4247

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MGAT2

MalaCards human disease database

More...
MalaCardsi
MGAT2
MIMi212066 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168282

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79329 MGAT2-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30780

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q10469

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2321630

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MGAT2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1708004

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000805171 – 447Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseAdd BLAST447

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi86N-linked (GlcNAc...) asparagineCombined sources1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi196 ↔ 210Combined sources1 Publication
Disulfide bondi283 ↔ 286Combined sources1 Publication
Disulfide bondi334 ↔ 357Combined sources1 Publication
Disulfide bondi339 ↔ 440Combined sources1 Publication
Disulfide bondi378 ↔ 386Combined sources1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q10469

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q10469

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q10469

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q10469

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q10469

PeptideAtlas

More...
PeptideAtlasi
Q10469

PRoteomics IDEntifications database

More...
PRIDEi
Q10469

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
58853

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q10469

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q10469

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168282 Expressed in 220 organ(s), highest expression level in jejunal mucosa

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q10469 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043721
HPA056824

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110403, 4 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q10469

Protein interaction database and analysis system

More...
IntActi
Q10469, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000307423

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q10469

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1447
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q10469

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni123 – 127Substrate bindingCombined sources1 Publication5
Regioni229 – 233Substrate bindingCombined sources1 Publication5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2791 Eukaryota
ENOG410XPYF LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000007341

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q10469

KEGG Orthology (KO)

More...
KOi
K00736

Identification of Orthologs from Complete Genome Data

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OMAi
FFPFSIQ

Database of Orthologous Groups

More...
OrthoDBi
647764at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q10469

TreeFam database of animal gene trees

More...
TreeFami
TF314772

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007754 GlcNAc_II
IPR029044 Nucleotide-diphossugar_trans

The PANTHER Classification System

More...
PANTHERi
PTHR12871 PTHR12871, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05060 MGAT2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53448 SSF53448, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i533B76D08BD8A572
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti299S → R in BAG52082 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003415262H → R in CDG2A; strongly reduced protein levels; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs104894447EnsemblClinVar.1
Natural variantiVAR_003416290S → F in CDG2A; strongly reduced protein levels; loss of enzyme activity. 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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9690.1

Protein sequence database of the Protein Information Resource

More...
PIRi
S66256

NCBI Reference Sequences

More...
RefSeqi
NP_002399.1, NM_002408.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000305386; ENSP00000307423; ENSG00000168282

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4247

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4247

UCSC genome browser

More...
UCSCi
uc001wwr.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

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

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5VCMX-ray1.60A/B29-447[»]
5VCRX-ray1.99A/B29-447[»]
5VCSX-ray2.80A/B29-447[»]
SMRiQ10469
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi110403, 4 interactors
CORUMiQ10469
IntActiQ10469, 3 interactors
STRINGi9606.ENSP00000307423

Chemistry databases

BindingDBiQ10469
ChEMBLiCHEMBL2321630

Protein family/group databases

CAZyiGT16 Glycosyltransferase Family 16

PTM databases

iPTMnetiQ10469
PhosphoSitePlusiQ10469

Polymorphism and mutation databases

BioMutaiMGAT2
DMDMi1708004

Proteomic databases

EPDiQ10469
jPOSTiQ10469
MassIVEiQ10469
MaxQBiQ10469
PaxDbiQ10469
PeptideAtlasiQ10469
PRIDEiQ10469
ProteomicsDBi58853

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
4247

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4247
DisGeNETi4247

GeneCards: human genes, protein and diseases

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GeneCardsi
MGAT2
GeneReviewsiMGAT2
HGNCiHGNC:7045 MGAT2
HPAiHPA043721
HPA056824
MalaCardsiMGAT2
MIMi212066 phenotype
602616 gene
neXtProtiNX_Q10469
OpenTargetsiENSG00000168282
Orphaneti79329 MGAT2-CDG
PharmGKBiPA30780

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2791 Eukaryota
ENOG410XPYF LUCA
GeneTreeiENSGT00390000007341
InParanoidiQ10469
KOiK00736
OMAiFFPFSIQ
OrthoDBi647764at2759
PhylomeDBiQ10469
TreeFamiTF314772

Enzyme and pathway databases

UniPathwayiUPA00378
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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MGAT2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MGAT2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4247
PharosiQ10469

Protein Ontology

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PROi
PR:Q10469

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000168282 Expressed in 220 organ(s), highest expression level in jejunal mucosa
GenevisibleiQ10469 HS

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, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMGAT2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q10469
Secondary accession number(s): B3KPC5, B3KQM0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 18, 2019
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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

Documents

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