WHRN

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants.

Whirlin

Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.

Biological Process auditory receptor cell stereocilium organization Source:GO_Central1 Publication
Biological Process cerebellar Purkinje cell layer formation Source:Ensembl
Biological Process detection of mechanical stimulus involved in sensory perception of sound Source:UniProtKB
Biological Process establishment of localization in cell Source:Ensembl
Biological Process establishment of protein localization Source:UniProtKB
Biological Process inner ear receptor cell differentiation Source:ComplexPortal1 Publication
Biological Process inner ear receptor cell stereocilium organization Source:UniProtKB
Biological Process paranodal junction maintenance Source:Ensembl
Biological Process positive regulation of gene expression Source:Ensembl
Biological Process retina homeostasis Source:HGNC-UCL1 Publication
Biological Process sensory perception of light stimulus Source:HGNC-UCL1 Publication
Biological Process sensory perception of sound Source:HGNC-UCL1 Publication

Cytoplasm
Cell projection, stereocilium
Cell projection, growth cone
Photoreceptor inner segment
Synapse
Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex.

Deafness, autosomal recessive, 31 (DFNB31):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Usher syndrome 2D (USH2D):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.