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FLASH GENE
Symbol CCDC50 contributors: mct - updated : 15-05-2013
HGNC name coiled-coil domain containing 50
HGNC id 18111
Corresponding disease
DFNA44 neurosensory deafness 44
Location 3q28      Physical location : 191.046.873 - 191.116.458
Synonym name
  • chromosome 3 open reading frame 6
  • Ymer protein
  • Synonym symbol(s) YMER, C3orf6, DFNA44
    DNA
    TYPE functioning gene
    STRUCTURE 69.59 kb     12 Exon(s)
    text structure
  • several alternative polyadenylation sites in the last exon containing also the 3-prime UTR
  • MAPPING cloned Y linked N status confirmed
    regionally located located in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 8421 35 306 . co-expressed with the long isoform in placenta, liver, lung, kidney and pancreas . detected also in skeletal muscle, brain and heart, organ of Corti 2003 1452772
  • coming from an alternative splicing event skipping exon 6
  • 12 splicing 8949 56 482 . co-expressed with the short isoform in placenta, liver, lung, kidney and pancreas 2003 1452772
    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