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FLASH GENE
Symbol CLIC5 contributors: mct/npt - updated : 21-03-2023
HGNC name chloride intracellular channel 5
HGNC id 13517
Corresponding disease
DFNB103 deafness, autosomal recessive 103
Location 6p21.1      Physical location : 45.866.189 - 46.048.085
Synonym symbol(s) CLIC5B, FLJ90663, MST130, MSTP130, dJ447E21.4, DFNB103, CLIC5A
DNA
TYPE functioning gene
STRUCTURE 248.99 kb     6 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
6 - 5971 46 410 - 2016 27582103
6 - 5706 - 212 - 2016 27582103
6 - 5641 - 212 - 2016 27582103
7 - 6226 - 410 - 2016 27582103
6 - 2023 - 205 - 2016 27582103
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly
Nervousbrain    
 spinal cord    
Reproductivefemale systemovary  highly
 female systemplacenta  highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
Hearing / Equilibriumstereocilia
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain, eye, lens, retina, choroid, RPE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies homolog to bovine p64
Homologene
FAMILY
  • CLIC family of chloride channel
  • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton
    text
  • localized at the base of stereocilia and required for normal hearing
  • CLIC4 is enriched in the outer mitochondrial membrane, whereas CLIC5 is present in the inner mitochondrial membrane
  • basic FUNCTION
  • involved in chloride ion transport within various subcellular compartments
  • may play an important role in the assembly or maintenance of F-actin-based structures at the cell cortex
  • actin-regulated membrane protein that could modify solute transport at key stages during cellular events such as apoptosis, cell and organelle division and fusion, cell-volume regulation, and cell movement
  • associates with radixin in hair cell stereocilia and may help form or stabilize connections between the plasma membrane and the filamentous actin core
  • is essential for normal inner ear function
  • is localized to the cardiac mitochondria and directly modulates mitochondrial function
  • CLIC5, is the first mitochondrial chloride channel to be identified on the molecular level in the inner mitochondrial membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with AKAP9 at the Golgi apparatus
  • interacting with radixin
  • interaction of CLIC5 with ERM proteins, TPRN, and possibly myosin VI (MYO6)
  • loss of ETV6 leads to significant overexpression of CLIC5, which in turn leads to decreased lysosome-mediated apoptosis
  • GRXCR2 interacts with chloride intracellular channel protein 5 (CLIC5) which is also localized at the base of stereocilia and required for normal hearing
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB103
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • EZR, CLIC5 and PODXL could be likely biological markers to predict the prognosis of hepatocellular carcinoma (HCC) and these proteins participate in migration and invasion processes
  • Therapy target
    ANIMAL & CELL MODELS
  • relative to wild-type mice, in Clic5-deficient mice, the phosphorylation of glomerular ezrin was diminished and the cytoskeletal association of both ezrin and Nherf2 was reduced