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FLASH GENE
Symbol POMGNT2 contributors: mct - updated : 15-10-2012
HGNC name protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
HGNC id 25902
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Nervousbrainforebraincerebral cortex predominantly Homo sapiens
 brainhindbraincerebellum predominantly Homo sapiens
Urinarykidney   highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac highly Homo sapiens
Muscularstriatumskeletal highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • highly expressed during brain and eye development
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a fibronectin III domain that is not essential for the enzymatic activity of POMGNT2
    • HOMOLOGY
    intraspecies homolog to highly homologous to EOGT
    Homologene
    FAMILY
  • glycosyltransferase 61 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • glycosyltransferase activity
  • might encode O-GlcNAc transferase that specifically glycosylates DAG1
  • POMGNT2-dependent modification sites are mainly distributed in the O-mannosylated region and not limited to the LARGE-targeting sequence
  • novel glycosyltransferase catalyzing GlcNAcylation in the ER
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is a novel glycosyltransferase catalyzing GlcNAcylation of O-mannosylated DAG1 in the ER
  • modifies O-mannose on the mucin-like domain of DAG1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS