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FLASH GENE
Symbol POMT2 contributors: mct/npt/shn - updated : 22-09-2012
HGNC name protein-O-mannosyltransferase 2
HGNC id 19743
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four MIR domains
  • 7-transmembrane helical structure with a central hydrophilic domain flanked by 5 N-terminal and 2 C-terminal transmembrane regions
    • HOMOLOGY
    interspecies ortholog to Pomt2, Mus musculus
    ortholog to Pomt2, Rattus norvegicus
    ortholog to pomt2, Danio rerio
    ortholog to POMT2, Pan troglodytes
    Homologene
    FAMILY
  • glycosyltransferase family 39
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text an integral membrane protein of the endoplasmic reticulum membrane
    basic FUNCTION
  • catalyzing the first step in O-glycosylation
  • playing a specific role in the maturation and/or function of sperm in mammals
  • POMT1 and POMT2 have discrete functions since the effect of amino acid substitutions on enzymatic activity are different
  • with POMT2, are responsible for the catalysis of the first step in O-mannosyl glycan synthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text catalysis of the first step in O-mannosyl glycan synthesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS2 , LGMD2N
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS