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FLASH GENE
Symbol PJVK contributors: mct - updated : 27-06-2018
HGNC name pejvakin
HGNC id 29502
Corresponding disease
DFNB59 neurosensory deafness 59
Location 2q31.2      Physical location : -
Synonym name
  • autosomal recessive deafness type 59 protein
  • deafness, autosomal recessive 59
  • Synonym symbol(s) DFNB59
    DNA
    TYPE functioning gene
    STRUCTURE 9.95 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1534 - 352 - 2006 16804542
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid    
    Hearing/Equilibriumear    
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
    Reproductivemale systemtestis   
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal sequences characterized by a conserved LEP amino acid triplet (except LDT in GSDMB) followed by N/DL/VY/FV/LVM/TE and several more conserved amino acid residues
  • a nuclear localization signal
  • a putative zinc-binding, DNA-interacting motif
  • HOMOLOGY
    interspecies ortholog to murine Dfna5h-related gene
    intraspecies paralog to DFNA5
    Homologene
    FAMILY
  • gasdermin family
  • CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text cells bodies of neurons
    basic FUNCTION
  • playing an essential role in the activity of auditory pathway neurons, in the propagation of the action potential or in intracellular trafficking
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    afferent auditory pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB59
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS