Entity Details

Primary name WHRN
Entity type gene
Source Source Link

Details

PrimaryID25861
RefseqGeneNG_016700
SymbolWHRN
Namewhirlin
Chromosome9
Location9q32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-21
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsWHRN_HUMAN

GO terms

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GOName
GO:0001895 retina homeostasis
GO:0001917 photoreceptor inner segment
GO:0002141 stereocilia ankle link
GO:0002142 stereocilia ankle link complex
GO:0005737 cytoplasm
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0007605 sensory perception of sound
GO:0010628 positive regulation of gene expression
GO:0021694 cerebellar Purkinje cell layer formation
GO:0030426 growth cone
GO:0032391 photoreceptor connecting cilium
GO:0032420 stereocilium
GO:0032426 stereocilium tip
GO:0036064 ciliary basal body
GO:0042802 identical protein binding
GO:0045184 establishment of protein localization
GO:0045202 synapse
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0050953 sensory perception of light stimulus
GO:0060088 auditory receptor cell stereocilium organization
GO:0060122 inner ear receptor cell stereocilium organization
GO:1990075 periciliary membrane compartment
GO:1990227 paranodal junction maintenance
GO:1990696 USH2 complex

Diseases

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Disease IDSourceNameDescription
607084 OMIMDeafness, 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. The disease is caused by variants affecting the gene represented in this entry.
611383 OMIMUsher 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. The disease is caused by variants affecting the gene represented in this entry.