FEATURES

DESCRIPTION

Also known as WHRN_MOUSE, Whrn, Dfnb31, Kiaa1526. Involved in hearing and vision as member of the USH2 complex (PubMed:20502675). Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (PubMed:15590699). Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear (PubMed:20502675, PubMed:24334608). In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport (PubMed:20502675). Forms homooligomers (PubMed:15590698, PubMed:25406310). Interacts (via C-terminal PDZ domain) with MYO15A; this interaction is necessary for localization of WHRN to stereocilia tips (PubMed:15654330, PubMed:15590698). Interacts (via C-terminal PDZ domain) with MPP1/p55 (PubMed:16829577, PubMed:17584769). Interacts with LRRC4C/NGL1 (PubMed:15590698). Interacts with MYO7A (PubMed:15590698). Interacts with RPGR (PubMed:22323458). Interacts with EPS8 (PubMed:21236676). Interacts with CASK. Interacts with CIB2 (By similarity). Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN (PubMed:20502675, PubMed:25406310). Interacts (via PDZ domains) with PDZD7; the interaction is direct (PubMed:25406310). Interacts (via N-terminal PDZ domain) with USH2A (via cytoplasmic region) (PubMed:16301217, PubMed:20502675, PubMed:23055499). Interacts with ADGRV1/MASS1 (via cytoplasmic region) (PubMed:20502675, PubMed:23055499).

EXTERNAL LINKS

Whrn

Mutations

Mutation(s) distribution

Mutations table