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FLASH GENE
Symbol EPS8L2 contributors: mct - updated : 28-03-2023
HGNC name EPS8-like 2
HGNC id 21296
DNA
TYPE functioning gene
STRUCTURE 21.49 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 3030 80.5 715 - 2009 19190083
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Hearing/Equilibriumearinner    Homo sapiens
Reproductivemale systemprostate   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
Hearing / Equilibriumstereocilia Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal PTB domain
  • C terminal SH3 domain
  • HOMOLOGY
    Homologene
    FAMILY
  • EPS8 family
  • CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • hair bundle protein that is localized at the tips of stereocilia of both cochlear and vestibular hair cells
  • basic FUNCTION
  • in the cochlea, whereas EPS8 is essential for the initial elongation of stereocilia, EPS8L2 is required for their maintenance in adult hair cells
  • is required for the long-term maintenance of the staircase structure and mechanosensory function of auditory hair bundles
  • exocyst regulates the MAPK pathway via EGFR, and EPS8L2 may be involved in this regulation (
  • CTDNEP1-EPS8L2 interaction regulates likely dorsal actin cables for nuclear movement during cell migration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CTDNEP1 and EPS8L2 directly interact, and this interaction is important for nuclear positioning and cell migration
  • BAIAP2L2 binds to known row 2 complex components EPS8L2, TWF2, and CAPZB2, and the stereociliary tip localization of CAPZB2 is dependent on functional BAIAP2L2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB106
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Eps8L2 null-mutant mice exhibit a late-onset, progressive hearing loss that is directly linked to a gradual deterioration in hair bundle morphology