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FLASH GENE
Symbol MGAT2 contributors: - updated : 24-04-2006
HGNC name mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
HGNC id 7045
Corresponding disease
CDG2A congenital disorder of glycosylation, type 2A
Location 14q21      Physical location : 50.087.488 - 50.090.198
Synonym name alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Synonym symbol(s) NAGT2, CDGS2, GNT-II, GLCNACTII, GNT2
EC.number 2.4.1.143
DNA
TYPE functioning gene
STRUCTURE 2.00 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
Hearing/Equilibriumear   highly
Lymphoid/Immunelymph node   highly
Nervousbrain    
Reproductivemale systemprostate   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a typical glycosyltransferase domains
  • a short N-terminal cytoplasmic domain
  • a hydrophobic non-cleavable signal-anchor domain,
  • a C-terminal catalytic domain.
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • catalyzing an essential step in the conversion of oligomannose to complex N-glycans
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG2A
    related resource Congenital Disorder of Glycosylation pages
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS