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MGAT2 Gene

protein-coding   GIFtS: 66
GCID: GC14P050087

Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase

  See MGAT2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mannosyl (Alpha-1,6-)-Glycoprotein
Beta-1,2-N-Acetylglucosaminyltransferase1 2
     CDG2A2 5
GlcNAc-T II2 3     CDGS22 5
Mannoside Acetylglucosaminyltransferase 22 3     GLCNACTII2
GNT-II2 3     GNT22
Beta-1,2-N-Acetylglucosaminyltransferase II2 3     Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase2
N-Glycosyl-Oligosaccharide-Glycoprotein N-Acetylglucosaminyltransferase II2 3     UDP-N-Acetylglucosamine:Alpha-6-D-Mannoside
Beta-1,2-N-Acetylglucosaminyltransferase II2
EC 2.4.1.1433 8     

External Ids:    HGNC: 70451   Entrez Gene: 42472   Ensembl: ENSG000001682827   OMIM: 6026165   UniProtKB: Q104693   

Export aliases for MGAT2 gene to outside databases

Previous GC identifers: GC14P047409 GC14P043883 GC14P048077 GC14P049157 GC14P030204


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 2a. GO annotations related to this gene include carbohydrate binding and alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot: MGAT2_HUMAN, Q10469
Function: Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans

Gene Wiki entry for MGAT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MGAT2 gene promoter:
         TBP   Elk-1   Pax-5   LCR-F1   C/EBPalpha   CREB   NRF-2   HOXA5   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMGAT2 promoter sequence
   Search Chromatin IP Primers for MGAT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MGAT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21   Ensembl cytogenetic band:  14q21.3   HGNC cytogenetic band: 14q21

MGAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MGAT2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P050087:  view genomic region     (about GC identifiers)

Start:
50,087,489 bp from pter      End:
50,090,199 bp from pter
Size:
2,711 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MGAT2_HUMAN, Q10469 (See protein sequence)
Recommended Name: Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase  
Size: 447 amino acids; 51550 Da
Secondary accessions: B3KPC5

Explore the universe of human proteins at neXtProt for MGAT2: NX_Q10469

Explore proteomics data for MGAT2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser59, Asn69, Asn86
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for MGAT2 (Q10469)
     DPRDCPRDL  APDFYHVFKKMW  ADKVDVKTWKSTEHNMGLALTR 


    See MGAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002399.1  
    ENSEMBL proteins: 
     ENSP00000307423  
    Reactome Protein details: Q10469

    MGAT2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007754 GlcNAc_II

    Graphical View of Domain Structure for InterPro Entry Q10469

    ProtoNet protein and cluster: Q10469

    1 Blocks protein domain: IPB007754 N-acetylglucosaminyltransferase II


    Find genes that share domains with MGAT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MGAT2_HUMAN, Q10469
    Function: Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans
    Catalytic activity: 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

         Genatlas biochemistry entry for MGAT2:
    mannosyl (alpha-1,6-) glycoprotein beta -1,2-N-acetyl-glucosaminyltransferase,Golgi,biosynthesis of complex
    Asn-linked (N) glycans

         Enzyme Number (IUBMB): EC 2.4.1.1431 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008455alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IEA--
    GO:0030246carbohydrate binding IEA--
         
    Find genes that share ontologies with MGAT2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MGAT2:
     Increased gamma-H2AX phosphory  Synthetic lethal with imatinib 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mgat2) (see all 16):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     muscle  nervous system  no phenotypic analysis  renal/urinary system  reproductive system 

    Find genes that share phenotypes with MGAT2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mgat2tm1.1Jxm for MGAT2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MGAT2
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    miRNA
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    miRTarBase miRNAs that target MGAT2:
    hsa-mir-30c-5p (MIRT047885)

    Block miRNA regulation of human, mouse, rat MGAT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MGAT2 (see all 14):
    hsa-miR-374b* hsa-miR-3671 hsa-miR-577 hsa-miR-495 hsa-miR-429 hsa-miR-496 hsa-miR-491-3p hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidMGAT2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MGAT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MGAT2_HUMAN, Q10469: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005795Golgi stack IEA--
    GO:0016020membrane TAS7797505
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MGAT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MGAT2 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    N-Glycan biosynthesis0.49
    N-glycan antennae elongation in the medial/trans-Golgi0.00
    Post-translational protein modification0.43
    Reactions specific to the complex N-glycan synthesis pathway0.00
    Transport to the Golgi and subsequent modification0.40
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with MGAT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MGAT2
        Reactions specific to the complex N-glycan synthesis pathway


    2 Kegg Pathways  (Kegg details for MGAT2):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: MGAT2_HUMAN, Q10469
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MGAT2: 

              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MGAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for MGAT2 (ENSP000003074234) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FUT8ENSP000003539104STRING: ENSP00000353910
    MAN2A1ENSP000002614834STRING: ENSP00000261483
    MAN2A2ENSP000003536554STRING: ENSP00000353655
    MGAT3ENSP000003452704STRING: ENSP00000345270
    MGAT4AENSP000002649684STRING: ENSP00000264968
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006487protein N-linked glycosylation TAS7635144
    GO:0009311oligosaccharide metabolic process TAS7635144
    GO:0009312oligosaccharide biosynthetic process IEA--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--

    Find genes that share ontologies with MGAT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MGAT2

    2 HMDB Compounds for MGAT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylglucosamineN-[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 (see all 30)528-04-1--

    2 Novoseek inferred chemical compound relationships for MGAT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polysaccharide 57.6 6 12417409 (1), 9579808 (1), 10571011 (1), 8808595 (1) (see all 5)
    mannose 41.7 1 7797505 (1)



    Find genes that share compounds with MGAT2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MGAT2 gene (2 alternative transcripts): 
    NM_002408.3  NM_001015883.1  

    Unigene Cluster for MGAT2:

    Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
    Hs.93338  [show with all ESTs]
    Unigene Representative Sequence: NM_002408
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000305386(uc001wwr.3)
    miRNA
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    hsa-miR-374b* hsa-miR-3671 hsa-miR-577 hsa-miR-495 hsa-miR-429 hsa-miR-496 hsa-miR-491-3p hsa-miR-3647-3p
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    Additional mRNA sequence: 

    AK056167.1 AK075051.1 AK075199.1 AK293231.1 BC006390.2 BC018912.2 

    8 DOTS entries:

    DT.417467  DT.97801629  DT.102824166  DT.95280094  DT.120729906  DT.120730041  DT.95280092  DT.87046992 

    Selected AceView cDNA sequences (see all 149):

    AI264638 BC006390 BI764270 BC018912 CK819492 BP380227 AI343517 BM838604 
    BU072944 AI927456 NM_002408 AW450719 AI138634 BQ011809 CB143376 BF002289 
    CK819491 AI344112 AI342414 CB127118 BP366273 BF701587 BG675204 BE748460 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MGAT2    About this scheme

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


    ECgene alternative splicing isoforms for MGAT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MGAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTCTGTAA
    MGAT2 Expression
    About this image


    MGAT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Kidney (Urinary System)
    MGAT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MGAT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.93338
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MGAT2: 
              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MGAT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MGAT2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mgat21 , 5 mannoside acetylglucosaminyltransferase 21, 5 88.08(n)1
    89.37(a)1
      12 (28.73 cM)5
    2176641  NM_146035.21  NP_666147.11 
     691841575 
    chicken
    (Gallus gallus)
    Aves MGAT21 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 70.05(n)
    75.2(a)
      428925  XM_003641449.2  XP_003641497.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.64032 Xenopus laevis transcribed sequence with moderate similarity more 76.51(n)    48020624 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.145472 Transcribed sequence with moderate similarity to protein more 78(n)    BI673989.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mgat21 , 3 terminal N-glycosylation
    alpha-1,6-mannosylglycoprotein
    more3
    Mgat21
    44(a)3
    50.99(n)1
    43.7(a)1
      99D13
    435631  NM_143506.41  NP_651763.41 
    worm
    (Caenorhabditis elegans)
    Secernentea C03E10.43
    gly-201
    UDP-GlcNAc:a-6-D-mannoside
    b1,2-N-acetylglucosaminyltransferase
    more3
    gly-201
    35(a)3
    46.74(n)1
    36.98(a)1
      V(11285248-11288301)3
    1795621  NM_073463.61  NP_505864.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G053201 AT2G05320 46.58(n)
    34.16(a)
      815080  NM_126556.2  NP_178601.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g07981001 Os02g0798100 47.82(n)
    37.93(a)
      4331021  NM_001054935.2  NP_001048400.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MGAT2 gene

    Find genes that share paralogs with MGAT2           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for MGAT2 (see all 7)
    PGOHUM00000241564 PGOHUM00000241565 PGOHUM00000241566 PGOHUM00000241567 PGOHUM00000242034


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MGAT2 (see all 165)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0123434
    Congenital disorder of glycosylation 2A (CDG2A)4--see VAR_0123432 N D mis40--------
    VAR_0034154
    Congenital disorder of glycosylation 2A (CDG2A)4--see VAR_0034152 H R mis40--------
    VAR_0034164
    Congenital disorder of glycosylation 2A (CDG2A)4--see VAR_0034162 S F mis40--------
    rs1048944471,2
    Cpathogenic131071929(+) GGATCA/GCTACT 2 H R mis10--------
    rs1048944461,2
    Cpathogenic131072013(+) TCTCTC/TCCTGG 2 S F mis10--------
    rs1048944481,2
    Cpathogenic131072096(+) AGCACA/GATATG 2 N D mis10--------
    rs1048944491,2
    Cpathogenic131072161(+) TTCTGA/TACTTA 2 * C stg10--------
    rs1897052651,2
    --30207082(+) TTAAAC/TATTGT 1 -- ut310--------
    rs1455958371,2
    C--30207343(+) TGCAAG/TAAACT 1 -- ds50010--------
    rs21820781,2
    C,F,A,H--30207577(-) ATAAAC/TGTCTA 1 -- ds500113Minor allele frequency- T:0.10NS EA NA WA 1708

    HapMap Linkage Disequilibrium report for MGAT2 (50087489 - 50090199 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MGAT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv28926CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): MGAT2
    Locus Specific Mutation Databases (LSDB): MGAT2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MGAT2
    DNA2.0 Custom Variant and Variant Library Synthesis for MGAT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602616   
    OMIM disorders: 212066  
    UniProtKB/Swiss-Prot: MGAT2_HUMAN, Q10469
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 1 disease for MGAT2:    
    About MalaCards
    congenital disorder of glycosylation type 2a

    1 disease from the University of Copenhagen DISEASES database for MGAT2:
    Congenital disorder of glycosylation

    Find genes that share disorders with MGAT2           About GenesLikeMe

    2 Novoseek inferred disease relationships for MGAT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carbohydrate-deficient glycoprotein syndrome, type ii 97 1 8808595 (1)
    congenital disorders 68.6 1 12417412 (1)

    GeneTests: MGAT2
    GeneReviews: MGAT2

    Export disorders for MGAT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MGAT2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with MGAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 7635144)1, 2, 3, 9 Tan J.... Schachter H. (Eur. J. Biochem. 1995)
    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. (PubMed id 8808595)1, 2, 9 Tan J.... Schachter H. (Am. J. Hum. Genet. 1996)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. (PubMed id 11228641)1, 2 Cormier-Daire V.... Seta N. (J. Med. Genet. 2000)
    6. Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II. (PubMed id 7797505)1, 9 D'Agostaro G.A....Bendiak B. (J. Biol. Chem. 1995)
    7. 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. (PubMed id 9579808)1, 9 Chen S.H....Schachter H. (Glycoconj. J. 1998)
    8. 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. (PubMed id 11805078)1, 9 Wang Y....Marth J.D. (Glycobiology 2001)
    9. Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells. (PubMed id 20378551)1 Hassinen A....Kellokumpu S. (J. Biol. Chem. 2010)
    10. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (DNA Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4247 HGNC: 7045 AceView: MGAT2 Ensembl:ENSG00000168282 euGenes: HUgn4247
    ECgene: MGAT2 Kegg: 4247 H-InvDB: MGAT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MGAT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MGAT2[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=MGAT2
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_534

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MGAT2 gene:
    Search GeneIP for patents involving MGAT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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