Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol POMT2 contributors: mct/npt/shn - updated : 22-09-2012
HGNC name protein-O-mannosyltransferase 2
HGNC id 19743
Corresponding disease
LGMD2N limb girdle muscular dystrophy 2N
WLKWS2 Walker-Warburg syndrome 2
Location 14q24.3      Physical location : 77.741.298 - 77.787.225
Synonym name
  • dolichyl-phosphate-mannose--protein mannosyltransferase 2
  • protein O-mannosyl-transferase 2
  • Synonym symbol(s) FLJ22309, LGMD2N, MDDGA2, MDDGB2, MDDGC2
    DNA
    TYPE functioning gene
    STRUCTURE 45.93 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D14S279 - D14S983 - POMT2 - D14S254 - D14S1020 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4874 - 750 - -
    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