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Aliases for MGAT2 Gene

Aliases for MGAT2 Gene

  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase 2 3 5
  • 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
  • UDP-N-Acetylglucosamine:Alpha-6-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase II 3
  • GLCNACTII 3
  • CDG2A 3
  • CDGS2 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 Metabolism and N-Glycan biosynthesis. 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

Enhancers for MGAT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MGAT2 on UCSC Golden Path with GeneCards custom track

Promoters for MGAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MGAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MGAT2 Gene

Chromosome:
14
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

Genes around MGAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Ser 59, Asn 69, and Asn 86
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families 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 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

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

Human Phenotype Ontology for MGAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MGAT2 Gene

MGI Knock Outs for MGAT2:

Animal Model Products

miRNA for MGAT2 Gene

miRTarBase miRNAs that target MGAT2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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:0005795 Golgi stack IEA --
genes like me logo Genes that share ontologies with MGAT2: view

Pathways & Interactions for MGAT2 Gene

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

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 IEA,TAS 7635144
GO:0009312 oligosaccharide biosynthetic process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with MGAT2: view

No data available for SIGNOR curated interactions for MGAT2 Gene

Drugs & Compounds for MGAT2 Gene

(1) Drugs for MGAT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(3) Additional Compounds for MGAT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
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:

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

Protein differential expression in normal tissues from HIPED for MGAT2 Gene

This gene is overexpressed in Breast (39.1) and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MGAT2: view

Protein tissue co-expression partners for MGAT2 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia MGAT2 35
  • 99.48 (n)
  • 99.55 (a)
rat
(Rattus norvegicus)
Mammalia Mgat2 35
  • 88.08 (n)
  • 89.82 (a)
oppossum
(Monodelphis domestica)
Mammalia MGAT2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGAT2 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MGAT2 35
  • 70.05 (n)
  • 75.2 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mgat2 35
  • 66.28 (n)
  • 65.51 (a)
Str.6260 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6403 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14547 35
mgat2 35
  • 61.53 (n)
  • 64.83 (a)
mgat2 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6109 35
fruit fly
(Drosophila melanogaster)
Insecta Mgat2 37
  • 44 (a)
Mgat2 35
  • 50.99 (n)
  • 43.7 (a)
Mgat2 36
  • 29 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004397 35
  • 49.67 (n)
  • 44.48 (a)
worm
(Caenorhabditis elegans)
Secernentea C03E10.4 37
  • 35 (a)
gly-20 35
  • 46.74 (n)
  • 36.98 (a)
gly-20 36
  • 31 (a)
OneToOne
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
VAR_003415 Congenital disorder of glycosylation 2A (CDG2A)
VAR_003416 Congenital disorder of glycosylation 2A (CDG2A)
VAR_012343 Congenital disorder of glycosylation 2A (CDG2A)
rs1957977 -- 49,623,885(-) AACTC(C/T)TGAGT downstream-variant-500B
rs1011373 -- 49,622,978(+) ACTGT(C/G)ATAGC 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

Variation tolerance for MGAT2 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MGAT2 Gene

HapMap Linkage Disequilibrium report
MGAT2
Human Gene Mutation Database (HGMD)
MGAT2

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

Disorders for MGAT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MGAT2 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iia
  • congenital disorder of glycosylation 2a
autosomal recessive disease
- elite association - COSMIC cancer census association via MalaCards
Search MGAT2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MGAT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MGAT2
genes like me logo Genes that share disorders with MGAT2: view

No data available for Genatlas for MGAT2 Gene

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 67
  2. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. (PMID: 11805078) Wang Y. … Marth J.D. (Glycobiology 2001) 3 23
  3. 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
  4. 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 23
  5. 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

Products for MGAT2 Gene

Sources for MGAT2 Gene

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