Whrn

Summary

Gene Symbol: Whrn
Description: whirlin
Alias: Cip98, Dfnb31, whirlin, CASK-interacting protein CIP98, deafness, autosomal recessive 31
Species: rat
Products:     Whrn

Top Publications

  1. Yap C, Liang F, Yamazaki Y, Muto Y, Kishida H, Hayashida T, et al. CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. J Neurochem. 2003;85:123-34 pubmed
    ..In the present study, we isolated CIP98, a novel protein (98 kDa) consisting of three PDZ domains and a proline-rich region, which is widely expressed in ..
  2. Kikkawa Y, Mburu P, Morse S, Kominami R, Townsend S, Brown S. Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum Mol Genet. 2005;14:391-400 pubmed
    ..The PDZ protein whirlin is known, by virtue of the whirler mutation, to be involved in the process of stereocilia elongation and actin ..
  3. Belyantseva I, Boger E, Naz S, Frolenkov G, Sellers J, Ahmed Z, et al. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol. 2005;7:148-56 pubmed
    ..We show that myosin-XVa is a motor protein that, in vivo, interacts with the third PDZ domain of whirlin through its carboxy-terminal PDZ-ligand. Myosin-XVa then delivers whirlin to the tips of stereocilia...
  4. Zou J, Zheng T, Ren C, Askew C, Liu X, Pan B, et al. Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet. 2014;23:2374-90 pubmed publisher
    ..PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and non-syndromic deafness...
  5. Mburu P, Mustapha M, Varela A, Weil D, El Amraoui A, Holme R, et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003;34:421-8 pubmed
    ..of the mouse phenotype and mutation analysis identified the causative gene as encoding a novel PDZ protein called whirlin. The gene encoding whirlin also underlies the human autosomal recessive deafness locus DFNB31...
  6. Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El Amraoui A, et al. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet. 2005;14:401-10 pubmed
    Defects in myosin XVa and the PDZ domain-containing protein, whirlin, underlie deafness in humans and mice. Hair bundles of mutant mice defective for either protein have abnormally short stereocilia...
  7. Van Wijk E, van der Zwaag B, Peters T, Zimmermann U, te Brinke H, Kersten F, et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet. 2006;15:751-65 pubmed
    Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse...
  8. Holme R, Kiernan B, Brown S, Steel K. Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol. 2002;450:94-102 pubmed
    ..Eventually, both IHCs and OHCs degenerate. We show that the whirler locus encodes a protein(s) required for the elongation and maintenance of IHC and OHC stereocilia. ..
  9. Ebrahim S, Ingham N, Lewis M, Rogers M, Cui R, Kachar B, et al. Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell Rep. 2016;15:935-943 pubmed publisher
    WHRN (DFNB31) mutations cause diverse hearing disorders: profound deafness (DFNB31) or variable hearing loss in Usher syndrome type II. The known role of WHRN in stereocilia elongation does not explain these different pathophysiologies...

More Information

Publications18

  1. Ciardo M, Andrés Bordería A, Cuesta N, Valente P, Camprubí Robles M, Yang J, et al. Whirlin increases TRPV1 channel expression and cellular stability. Biochim Biophys Acta. 2016;1863:115-27 pubmed publisher
    The expression and function of TRPV1 are influenced by its interaction with cellular proteins. Here, we identify Whirlin, a cytoskeletal PDZ-scaffold protein implicated in hearing, vision and mechanosensory transduction, as an ..
  2. Chen Q, Zou J, Shen Z, Zhang W, Yang J. Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem. 2014;289:36070-88 pubmed publisher
    ..Among the three USH clinical types, type 2 (USH2) occurs most commonly. USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients...
  3. Green J, Yang J, Grati M, Kachar B, Bhat M. Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons. BMC Neurosci. 2013;14:96 pubmed publisher
    ..b>Whirlin (Whrn) is a PDZ domain-containing cytoskeletal scaffold whose absence in humans results in Usher Syndromes or ..
  4. Zou J, Luo L, Shen Z, Chiodo V, Ambati B, Hauswirth W, et al. Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest Ophthalmol Vis Sci. 2011;52:2343-51 pubmed publisher
    b>Whirlin is the causative gene for Usher syndrome type IID (USH2D), a condition manifested as both retinitis pigmentosa and congenital deafness...
  5. Gillespie P, Muller U. Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell. 2009;139:33-44 pubmed publisher
  6. Maerker T, Van Wijk E, Overlack N, Kersten F, McGee J, Goldmann T, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17:71-86 pubmed
    ..we analyzed a protein network organized in the absence of harmonin by the scaffold proteins SANS (USH1G) and whirlin (USH2D)...
  7. Mogensen M, Rzadzinska A, Steel K. The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil Cytoskeleton. 2007;64:496-508 pubmed
    ..Here we provide further characterisation of the stereocilia of the whirler mouse mutant. We found that a lack of whirlin protein in whirler mutants results in short stereocilia with larger diameters without a corresponding increase in ..
  8. Ebermann I, Scholl H, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet. 2007;121:203-11 pubmed
    ..The DFNB31 gene encodes whirlin, a PDZ scaffold protein with expression in both hair cell stereocilia and retinal photoreceptor cells...
  9. Michalski N, Michel V, Bahloul A, Lefevre G, Barral J, Yagi H, et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007;27:6478-88 pubmed
    ..vezatin, and the PDZ (postsynaptic density-95/Discs large/zona occludens-1) domain-containing submembrane protein whirlin are colocalized with Vlgr1 at the stereocilia base in developing cochlear hair cells and are absent in Vlgr1-/- ..