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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately Homo sapiens
Digestiveliver   highly Homo sapiens
Endocrinepancreas   highly
Lymphoid/Immunespleen   lowly Homo sapiens
Nervousbrain   moderately Homo sapiens
Reproductivemale systemtestis   
 male systemtestis  predominantly Homo sapiens
Respiratorylung   lowly Homo sapiens
Urinarykidney   moderately Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye
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