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FLASH GENE
Symbol ELMOD3 contributors: mct - updated : 26-09-2018
HGNC name ELMO/CED-12 domain containing 3
HGNC id 26158
Corresponding disease
DFNA60 neurosensory deafness 60
DFNB88 neurosensory deafness 88
Location 2p11.2      Physical location : 85.581.842 - 85.618.873
Synonym name
  • RNA-binding motif protein 29
  • deafness, autosomal recessive 88
  • organic anion transporter LST-3b
  • RNA binding motif and ELMO domain 1
  • ELMO/CED-12 domain containing 3
  • Synonym symbol(s) LST3, RBED1, RBM29, DFNB88
    DNA
    TYPE functioning gene
    STRUCTURE 37.03 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2618 - 381 - 2014 24616099
    14 - 2434 - 381 - 2014 24616099
    13 - 2390 - 381 - 2014 24616099
    11 - 2789 - 391 - 2014 24616099
    14 - 2715 - 381 - 2014 24616099
    13 - 2322 - 381 - 2014 24616099
    12 - 2278 - 381 - 2014 24616099
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumepithelial cell Mus musculus
    Hearing / Equilibriumhair cell receptor Mus musculus
    Hearing / Equilibriumstereocilia Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ELMO domain having a function as a GTPase activating domain
  • a putative catalytic arginine, essential for Arf GAP function
  • HOMOLOGY
    Homologene
    FAMILY engulfment and cell motility (ELMO) family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • having functional links to sound perception and actin cytoskeleton
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB88 , DFNA60
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS