WHRN gene


The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

From UniProt:

Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Usher syndrome, type 2D
  • Deafness, autosomal recessive 31

From UniProt:

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. [MIM:607084]

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. [MIM:611383]

Cytogenetic Location: 9q32, which is the long (q) arm of chromosome 9 at position 32

Molecular Location: base pairs 114,402,078 to 114,505,509 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q32, which is the long (q) arm of chromosome 9 at position 32
  • CIP98
  • DFNB31
  • PDZD7B
  • USH2D
  • WI