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
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
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 (