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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
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
    Physical map
    ESRRB 14q24.3 estrogen-related receptor beta CYCSP1 14q24.3 cytochrome c, somatic pseudogene 1 LAMR1P3 14 laminin receptor 1 pseudogene 3 LOC388000 14 LOC388000 KIAA1036 14q24.3 LOC388000 KIAA0759 14q24.3 LOC388000 LOC145497 14q24.3 hypothetical protein LOC145497 RPL22P2 14 ribosomal protein L22 pseudogene 2 RPLP1P1 14q23 ribosomal protein, large, P1 pseudogene 1 C14orf4 14q24.3 chromosome 14 open reading frame 4 KIAA1737 14q24.3 KIAA1737 C14orf59 14 chromosome 14 open reading frame 59 C14orf171 14q24.3 chromosome 14 open reading frame 171 NGB 14q24 neuroglobin POMT2 14q24.3 protein-O-mannosyltransferase 2 GSTZ1 14q24.3 glutathione transferase zeta 1 (maleylacetoacetate isomerase) LOC283578 14q24.3 hypothetical protein LOC283578 LOC161394 14q24.3 hypothetical protein LOC161394 LOC122945 14q24.3 hypothetical protein FLJ32809 C14orf133 14q24.3-q31 chromosome 14 open reading frame 133 AHSA1 14q23.3-31 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) THSD3 14q24.3 thrombospondin, type I domain-containing 3 SPTLC2 14q24.3-q31 serine palmitoyltransferase, long chain base subunit 2 ALKBH 14q24 alkB, alkylation repair homolog (E. coli) RPL21P10 14 ribosomal protein L21 pseudogene 10 DC50 14q24.3 hypothetical protein DC50 SNW1 14q24.3 hypothetical protein DC50 FLJ25976 14q24.3 hypothetical protein FLJ25976 ADCK1 14q24.3 aarF domain containing kinase 1 FRDAP 14q24.3 Friedreich ataxia pseudogene
    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