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Gene Review

Whrn  -  whirlin

Mus musculus

Synonyms: 1110035G07Rik, AW122018, AW742671, C430046P22Rik, Dfnb31, ...
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High impact information on Whrn


Anatomical context of Whrn


Associations of Whrn with chemical compounds

  • By co-immunoprecipitation and in vitro binding assays, we establish that the usherin cytodomain can bind to whirlin and harmonin, two PDZ domain-containing proteins that are defective in genetic forms of isolated deafness and USH type I, respectively [5].

Physical interactions of Whrn

  • Finally, we show that the transmembrane netrin-G1 ligand (NGL-1) binds to the PDZ1 and PDZ2 domains of whirlin and has an extracellular region that homophilically self-interacts in a Ca2+-dependent manner [6].
  • Notably, whirlin also interacts with myosin VIIa that is present along the entire length of the stereocilia [6].

Other interactions of Whrn

  • The interaction between whirlin and NGL-1 might be involved in the stabilization of interstereociliar links [6].
  • A total of 19 loci were analyzed in these crosses, giving the following gene orders: interspecific cross, centromere-(D4Mit5, D4Mit38)-D4Mit6-(Lv, Tzn, D4Mit44)-wi-Hxb-(D4Mit25, D4Nds9)-(D4Mit7, D4Ler2)-b-D4Mit45-(D4Wsm1, D4Mit27b)-(D4Rck65, D4Mit15), and intraspecific cross, centromere-(Mup-1, wi, Hxb)-b-D4Wsm1 [7].
  • In whirlin mutants, myosin XVa is still expressed in stereocilia, but its appearance at the stereocilia tip is delayed [4].


  1. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Rump, A., Hardisty, R.E., Blanchard, S., Coimbra, R.S., Perfettini, I., Parkinson, N., Mallon, A.M., Glenister, P., Rogers, M.J., Paige, A.J., Moir, L., Clay, J., Rosenthal, A., Liu, X.Z., Blanco, G., Steel, K.P., Petit, C., Brown, S.D. Nat. Genet. (2003) [Pubmed]
  2. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Belyantseva, I.A., Boger, E.T., Naz, S., Frolenkov, G.I., Sellers, J.R., Ahmed, Z.M., Griffith, A.J., Friedman, T.B. Nat. Cell Biol. (2005) [Pubmed]
  3. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., Te Brinke, H., Kersten, F.F., Märker, T., Aller, E., Hoefsloot, L.H., Cremers, C.W., Cremers, F.P., Wolfrum, U., Knipper, M., Roepman, R., Kremer, H. Hum. Mol. Genet. (2006) [Pubmed]
  4. Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S., Brown, S.D. Hum. Mol. Genet. (2005) [Pubmed]
  5. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Adato, A., Lefèvre, G., Delprat, B., Michel, V., Michalski, N., Chardenoux, S., Weil, D., El-Amraoui, A., Petit, C. Hum. Mol. Genet. (2005) [Pubmed]
  6. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.P., Petit, C. Hum. Mol. Genet. (2005) [Pubmed]
  7. Linkage analysis of the whirler deafness gene on mouse chromosome 4. Fleming, J., Rogers, M.J., Brown, S.D., Steel, K.P. Genomics (1994) [Pubmed]
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