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Aliases for MGAT2 Gene

Aliases for MGAT2 Gene

  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase 2 3
  • N-Glycosyl-Oligosaccharide-Glycoprotein N-Acetylglucosaminyltransferase II 3 4
  • Beta-1,2-N-Acetylglucosaminyltransferase II 3 4
  • Mannoside Acetylglucosaminyltransferase 2 3 4
  • EC 2.4.1.143 4 63
  • GlcNAc-T II 3 4
  • GNT-II 3 4
  • CDG2A 3 6
  • CDGS2 3 6
  • UDP-N-Acetylglucosamine:Alpha-6-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase II 3
  • Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase 3
  • GLCNACTII 3
  • GNT2 3

External Ids for MGAT2 Gene

Previous GeneCards Identifiers for MGAT2 Gene

  • GC14P047409
  • GC14P043883
  • GC14P048077
  • GC14P049157
  • GC14P050087
  • GC14P030204

Summaries for MGAT2 Gene

Entrez Gene Summary for MGAT2 Gene

  • The 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]

GeneCards Summary for MGAT2 Gene

MGAT2 (Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with MGAT2 include congenital disorder of glycosylation, type iia and autosomal recessive disease. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include carbohydrate binding and alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot for MGAT2 Gene

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

Gene Wiki entry for MGAT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MGAT2 Gene

Genomics for MGAT2 Gene

Regulatory Elements for MGAT2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MGAT2 Gene

Start:
49,620,771 bp from pter
End:
49,623,481 bp from pter
Size:
2,711 bases
Orientation:
Plus strand

Genomic View for MGAT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MGAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAT2 Gene

Proteins for MGAT2 Gene

  • Protein details for MGAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10469-MGAT2_HUMAN
    Recommended name:
    Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
    Protein Accession:
    Q10469
    Secondary Accessions:
    • B3KPC5
    • B3KQM0

    Protein attributes for MGAT2 Gene

    Size:
    447 amino acids
    Molecular mass:
    51550 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MGAT2 Gene

Proteomics data for MGAT2 Gene at MOPED

Selected DME Specific Peptides for MGAT2 Gene

Post-translational modifications for MGAT2 Gene

  • Glycosylation at Ser59, Asn69, and Asn86
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAT2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MGAT2 Gene

Protein Domains for MGAT2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MGAT2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MGAT2 Gene

Function for MGAT2 Gene

Molecular function for MGAT2 Gene

GENATLAS Biochemistry: mannosyl (alpha-1,6-) glycoprotein beta -1,2-N-acetyl-glucosaminyltransferase,Golgi,biosynthesis of complex Asn-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-D-glucosamine + 6-(alpha-D-mannosyl)-beta-D-mannosyl-R = UDP + 6-(2-(N-acetyl-beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R
UniProtKB/Swiss-Prot Function: Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans

Enzyme Numbers (IUBMB) for MGAT2 Gene

Gene Ontology (GO) - Molecular Function for MGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008455 alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with MGAT2: view
genes like me logo Genes that share phenotypes with MGAT2: view

Animal Models for MGAT2 Gene

MGI Knock Outs for MGAT2:

Animal Model Products

CRISPR Products

miRNA for MGAT2 Gene

miRTarBase miRNAs that target MGAT2

No data available for Transcription Factor Targeting and HOMER Transcription for MGAT2 Gene

Localization for MGAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAT2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MGAT2 Gene COMPARTMENTS Subcellular localization image for MGAT2 gene
Compartment Confidence
golgi apparatus 5
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for MGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA --
GO:0005795 Golgi stack IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MGAT2: view

Pathways for MGAT2 Gene

genes like me logo Genes that share pathways with MGAT2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q10469-MGAT2_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for MGAT2 Gene

Gene Ontology (GO) - Biological Process for MGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation TAS 7635144
GO:0009311 oligosaccharide metabolic process TAS 7635144
GO:0009312 oligosaccharide biosynthetic process IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with MGAT2: view

Compounds for MGAT2 Gene

(2) HMDB Compounds for MGAT2 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
528-04-1

(2) Novoseek inferred chemical compound relationships for MGAT2 Gene

Compound -log(P) Hits PubMed IDs
polysaccharide 57.6 5
mannose 41.7 1
genes like me logo Genes that share compounds with MGAT2: view

Transcripts for MGAT2 Gene

mRNA/cDNA for MGAT2 Gene

Unigene Clusters for MGAT2 Gene

Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MGAT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MGAT2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c
SP1: -
SP2:

Relevant External Links for MGAT2 Gene

GeneLoc Exon Structure for
MGAT2
ECgene alternative splicing isoforms for
MGAT2

Expression for MGAT2 Gene

mRNA expression in normal human tissues for MGAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MGAT2 Gene

SOURCE GeneReport for Unigene cluster for MGAT2 Gene Hs.93338

genes like me logo Genes that share expressions with MGAT2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MGAT2 Gene

Orthologs for MGAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MGAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MGAT2 35
  • 99.48 (n)
  • 99.55 (a)
cow
(Bos Taurus)
Mammalia MGAT2 35
  • 91.33 (n)
  • 90.58 (a)
MGAT2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MGAT2 35
  • 93.05 (n)
  • 94.39 (a)
MGAT2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mgat2 35
  • 88.08 (n)
  • 89.37 (a)
Mgat2 16
Mgat2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MGAT2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGAT2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mgat2 35
  • 88.08 (n)
  • 89.82 (a)
chicken
(Gallus gallus)
Aves MGAT2 35
  • 70.05 (n)
  • 75.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6403 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mgat2 35
  • 66.28 (n)
  • 65.51 (a)
Str.6260 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6109 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14547 35
mgat2 35
  • 61.53 (n)
  • 64.83 (a)
mgat2 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004397 35
  • 49.67 (n)
  • 44.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mgat2 35
  • 50.99 (n)
  • 43.7 (a)
Mgat2 36
  • 29 (a)
OneToOne
Mgat2 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea gly-20 35
  • 46.74 (n)
  • 36.98 (a)
gly-20 36
  • 31 (a)
OneToOne
C03E10.4 37
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G05320 35
  • 46.58 (n)
  • 34.16 (a)
rice
(Oryza sativa)
Liliopsida Os02g0798100 35
  • 47.82 (n)
  • 37.93 (a)
Species with no ortholog for MGAT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MGAT2 Gene

ENSEMBL:
Gene Tree for MGAT2 (if available)
TreeFam:
Gene Tree for MGAT2 (if available)

Paralogs for MGAT2 Gene

genes like me logo Genes that share paralogs with MGAT2: view

No data available for Paralogs for MGAT2 Gene

Variants for MGAT2 Gene

Sequence variations from dbSNP and Humsavar for MGAT2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs1011373 -- 49,622,978(+) ACTGT(C/G)ATAGC utr-variant-3-prime
rs1957977 -- 49,623,885(-) AACTC(C/T)TGAGT downstream-variant-500B
rs2182078 -- 49,623,728(-) ATAAA(C/T)GTCTA downstream-variant-500B
rs34548710 -- 49,623,776(+) ATTTC(-/C)TCATA downstream-variant-500B
rs34728941 -- 49,623,447(+) TAATT(-/T)GAGTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MGAT2 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV Gain+Loss 19812545

Relevant External Links for MGAT2 Gene

HapMap Linkage Disequilibrium report
MGAT2
Human Gene Mutation Database (HGMD)
MGAT2
Locus Specific Mutation Databases (LSDB)
MGAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGAT2 Gene

Disorders for MGAT2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for MGAT2 Gene including...

Search for MGAT2 Gene in MalaCards »

(1) OMIM Diseases for MGAT2 Gene (602616)

UniProtKB/Swiss-Prot

MGAT2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MGAT2 Gene

(2) Novoseek inferred disease relationships for MGAT2 Gene

Disease -log(P) Hits PubMed IDs
carbohydrate-deficient glycoprotein syndrome, type ii 97 1
congenital disorders 68.6 1

Relevant External Links for MGAT2

GeneTests
MGAT2
GeneReviews
MGAT2
genes like me logo Genes that share disorders with MGAT2: view

Publications for MGAT2 Gene

  1. The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-N- acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. (PMID: 7635144) Tan J. … Schachter H. (Eur. J. Biochem. 1995) 2 3 4 23
  2. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. (PMID: 8808595) Tan J. … Schachter H. (Am. J. Hum. Genet. 1996) 3 4 23
  3. Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II. (PMID: 7797505) D'Agostaro G.A. … Bendiak B. (J. Biol. Chem. 1995) 3 23
  4. Transcriptional regulation of the human UDP-GlcNAc:alpha-6-D-mannoside beta-1-2-N-acetylglucosaminyltransferase II gene (MGAT2) which controls complex N-glycan synthesis. (PMID: 9579808) Chen S.H. … Schachter H. (Glycoconj. J. 1998) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for MGAT2 Gene

Sources for MGAT2 Gene

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