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FLASH GENE
Symbol WHRN contributors: mct/shn - updated : 31-05-2015
HGNC name whirlin
HGNC id 16361
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 splicing 2915 55.4 524 brain, kidney Ota, Yang (2010)
  • also called DFNB31S - variant 2/isoform 2
  • no N-terminal PDZ domains but retains the proline-rich region and the third C-terminal PDZ domain (PDZ3)
  • 12 splicing 4076 96.3 906 in the retina van Wijk, Yang (2010)
  • also called DFNB31L - variant 3/isoform 3
  • encoding PDZ1, PDZ2, PDZ3
  • only the long isoform, distinct from a short isoform by virtue of having two N-terminal PDZ domains, is expressed in the retina
  • N-terminal PDZ domains of the long whirlin isoform mediates the formation of a multi-protein complex that includes usherin and GPR98
  • 12 splicing 4079 96.42 907 ubiquitous except lung and testis Ota, Yang (2010)
    also called variant 1/isoform 1
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   moderately Homo sapiens
    Hearing/EquilibriumearinnercochleaCorti 
    Lymphoid/Immunespleen   moderately Homo sapiens
    Nervousbraindiencephalonamygdala highly Homo sapiens
     brainlimbic systemhippocampus moderately Homo sapiens
     brainhindbraincerebellum moderately Homo sapiens
     brainbasal nucleicaudate nucleus moderately Homo sapiens
     brain   moderately Homo sapiens
     brainmidbrainsubstantia nigra highly Homo sapiens
     brainbasal nucleicorpus callosum highly Homo sapiens
     spinal cord   moderately Homo sapiens
    Reproductivefemale systemovary  moderately Homo sapiens
     male systemtestis  moderately Homo sapiens
    Urinarykidney    
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia Homo sapiens
    Nervousneuron Homo sapiens
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text inner ear, brain and retina (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-terminal PDZ domains
  • a proline-rich domain
  • a third PDZ domain near the C-terminus
  • HOMOLOGY
    interspecies ortholog to Dfnb31, Mus musculus
    ortholog to Dfnb31, Rattus norvegicus
    ortholog to DFNB31, Pan troglodytes
    ortholog to LOC557641, Danio rerio
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • localized in the ridges of the periciliary complex and in the connecting cilium of photoreceptor cells
  • localizing to a membrane microdomain that surrounds the connecting cilia, a location that is identical to that of usherin (Yang 2010)
  • basic FUNCTION
  • controlling the coordinated actin polymerization and membrane growth of stereocilia
  • playing an essential role for the elongation process and maintenance of the stereocilia in both inner hair cells and outer hair cells (
  • XVa-whirlin interaction at the stereocilia tip is likely to control the elongation of stereocilia (
  • having a pleiotropic function in both the retina and the inner ear (
  • WHRN and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2
  • while PDZ protein USH1C is not involved, its paralogous USH2 proteins, PDZD7 and WHRN, function synergistically in USH2 complex assembly in cochlear hair cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with MPP1 at the stereocilia tip during hair cell development
  • MYO15A, DFNB31, and EPS8 are integral components of the stereocilia tip complex, where EPS8 is a central actin-regulatory element for elongation of the stereocilia actin core
  • MYO7A forms a complex with PDZD7, a paralog of USH1C and WHRN
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • calmodulin-dependent serine kinase, CASK (
  • myosin XVa, MYO7A and netrin-G1 ligand, NGL1(
  • USH2A and USH2C (
  • L-type calcium channel subunit Ca(v)1.3 (alpha(1D)) (
  • espin (
  • RPGR(ORF15) in the retina (
  • USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells
  • direct interaction between USH1G and the transmembrane adhesion protein USH2A and both assemble into a ternary USH1/USH2 complex together with WHRN via mutual interactions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB31 , USH2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear (
  • Hair bundles of mutant mice defective for Dfnb31 protein have abnormally short stereocilia (