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FLASH GENE
Symbol DNAAF2 contributors: mct/npt - updated : 14-11-2015
HGNC name dynein, axonemal, assembly factor 2
HGNC id 20188
Corresponding disease
ICS13 immotile cilia syndrome 13
Location 14q21.3      Physical location : -
Synonym name
  • kintoun
  • hypothetical protein LOC55172
  • chromosome 14 open reading frame 104
    • Synonym symbol(s) FLJ10563, CILD10, PF13, KTU, c14orf104
    DNA
    TYPE functioning gene
    STRUCTURE 10.06 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2976 91 837 - Omran (2008)
    2 - 2832 85.5 789 - Omran (2008)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivemale systemtestis   
    Urinarykidneytubule   
    cell lineage
    cell lines
    fluid/secretion sperm
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved N-terminal region with a weak similarity to PIH1D1, a yeast nucleolar protein involved in assembly of pre-ribosomal-RNA processing
    • HOMOLOGY
    interspecies ortholog to rattus LOC362746
    Homologene
    FAMILY
  • PIH1 family
  • kintoun subfamily
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text in renal tubules, localized in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia (Omran 2008)
    basic FUNCTION
  • one of the long-sought proteins involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment
  • required in the cytoplasm for the pre-assembly of dynein arm complexes before they become transported to their destined functional sites within the axoneme
  • involved in the cytoplasmic assembly of dyneins that power ciliary motility
  • plays a role in cytoplasmic preassembly and/or targeting of dynein-arm complexes
  • DNAAF3 acts at a similar stage as other preassembly proteins, DNAAF2 and DNAAF1 (also known as ODA7 or LRRC50), in the dynein preassembly pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CFAP300 interaction with cytoplasmic Outer and Inner Dynein Arms assembly factor DNAAF2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS