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FLASH GENE
Symbol POFUT2 contributors: mct - updated : 15-02-2012
HGNC name protein O-fucosyltransferase 2
HGNC id 14683
Location 21q22.3      Physical location : 46.683.843 - 46.707.811
Genatlas name chromosome 21 open reading frame 80
Synonym name related to C elegans cos K10G9
Synonym symbol(s) KIAA0958, C21orf80, FUT13,
EC.number 2.4.1.221
DNA
TYPE functioning gene
STRUCTURE 23.97 kb     10 Exon(s)
MAPPING cloned Y linked N status confirmed
Map see ADARB1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 4843 - 424 fetal liver, peripheral lymphocytes 2006 16679357
  • POFUT2 Ia
    • - - 4840 - 380 spleen, lung, testis, bone marrow, pancreas, prostate , fetal brain, liver, kidney 2006 16679357
    10 - 2878 - 429 brain, heart, spleen, liver, lung, stomach, testis, placenta, prostate, skin, fetal brain, liver, heart, 2006 16679357
  • POFUT2 Ic
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to C-elegans Pad-2
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text colocalizing with giantin, a Golgi-specific protein
    basic FUNCTION
  • playing a potential role in Down syndrome phenotype
  • O-fucosylate Thrombospondin type 1 repeats (TSRs) but not EGF-like repeats
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS