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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
Corresponding disease
WLKWS6 Walker-Warburg syndrome 6
Location 3p22.1      Physical location : -
Synonym name
  • glycosyltransferase 2
  • chromosome 3 open reading frame 39
    • Synonym symbol(s) FLJ14566, AGO61, C3orf39, MDDGA8, C3orf39, GTDC2
    EC.number 2.4.1.255
    DNA
    TYPE functioning gene
    STRUCTURE 26.84 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2556 66.5 580 - 2012 22958903
    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