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FLASH GENE
Symbol CCDC50 contributors: mct - updated : 15-05-2013
HGNC name coiled-coil domain containing 50
HGNC id 18111
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 liver   highly
 mouthtongue  predominantly
 pharynx   highly
 stomach   highly
Hearing/Equilibriumearinner  moderately
Lymphoid/Immunelymph node   highly
Reproductivefemale systembreastmammary gland highly
 female systemplacenta  highly
Skin/Tegumentskin   highly
Urinarybladder   highly
 kidney   highly
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
Hearing / Equilibriumepithelial cell
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil domain encoded by exons 3 and 4
  • two motifs interacting with ubiquitin (MIUs) are encoded by exons 7 and 8 (MIU1) and by exons 8 and 9 (MIU2)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text in dividing cells, colocalizes with microtubules of the mitotic apparatus
    basic FUNCTION
  • tyrosine phosphorylated effector of EGF-mediated cell signaling, associated with microtubule-based structures and may play roles in the developing and adult inner ear
  • not involved in the crucial steps of mitosis
  • involved in EGFR signaling
  • functions as a novel inhibitor for the down-regulation of the EGF receptor and plays a crucial role for regulating the amount of the EGF receptor on the cell surface membrane (
  • likely to be a negative regulator for the NF-kappaB signaling pathway
  • required for survival in chronic lymphocytic leukemia (CLL) and mantle cell lymphoma (MCL) cells and controls NFkappaB signaling
  • acting as a regulator downstream of several receptors and functioning as a positive or negative regulator in a signaling pathway-dependent manner
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • phosphorylated on tyrosine residues
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts and collaborates with TNFAIP3, followed by degradation of receptor-interacting protein (RIP) and attenuation of NFKB signaling
  • cell & other
    REGULATION
    Phosphorylated by by EGF stimulation
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA44
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS