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FLASH GENE
Symbol MGAT2 last update : 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
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 RNA EXP/sub-loc PROTEIN PATHOLOGY
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
Physical map
ATP5GP2 14q21.3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 2 LOC387988 14 hypothetical gene supported by BC015974 RPS29 14q13.3-q21.1 ribosomal protein S29 PPIL5 14q21.3 peptidylprolyl isomerase (cyclophilin) like 5 ARHQP 14 ras homolog gene family, member Q pseudogene RPL36AL 14q21 ribosomal protein L36a-like MGAT2 14q21 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase C14orf104 14q21.3 chromosome 14 open reading frame 104 POLE2 14q21-q22 polymerase (DNA directed), epsilon 2 (p59 subunit) STK16P 14 serine/threonine kinase 16 pseudogene KLHDC1 14q21.3 kelch domain containing 1 KLHDC2 14q21.3 kelch domain containing 2 SDCCAG1 14q22 serologically defined colon cancer antigen 1 ARF6 7q22.1 ADP-ribosylation factor 6 LOC283551 14q22.1 hypothetical protein LOC283551 PDLIM1P 14 PDZ and LIM domain 1 pseudogene RPS15AP2 14 ribosomal protein S15a pseudogene 2 LOC196913 14q22.1 hypothetical protein LOC196913 C14orf138 14q22.1 chromosome 14 open reading frame 138 SOS2 14q22 son of sevenless homolog 2 (Drosophila)
RNA
TRANSCRIPTS type messenger
EXPRESSION / SUBCELLULAR LOCALIZATION
EXPRESSION (based on citations) widely
constitutive of
   expressed in
organ(s)
SystemOrgan 1organ 2organ 3organ 4level
Digestivemouthtongue  highly
Hearing/Equilibriumear   highly
Lymphoid/Immunelymph node   highly
Nervousbrain    
Reproductivemale systemprostate   
Urinarykidney    
tissue
SystemTissueS_TissueSs_Tissuelevel
Blood / hematopoieticbone marrow  highly
cells
SystemCell
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,Golgi ,lumen,membrane
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
    interspecies
     
    intraspecies
     
    Homologene
    FAMILY
    CATEGORY enzyme
    basic FUNCTION
  • catalyzing an essential step in the conversion of oligomannose to complex N-glycans
    • implicated in a
    process
    cellular process
    physiological
    pathway
    metabolism
    signaling
    a component
    structural
    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
    Therapy target
    animal or cellular model