Entity Details

Primary name WHRN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P202
EntryNameWHRN_HUMAN
FullNameWhirlin
TaxID9606
Evidenceevidence at protein level
Length907
SequenceStatuscomplete
DateCreated2004-12-07
DateModified2021-06-02

Ontological Relatives

GenesWHRN

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

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR001478 PDZ domainDomainDomain
IPR033028 WhirlinFamilyFamily
IPR036034 PDZ superfamilyFamilyHomologous superfamily

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.

Interactions

27 interactions

InteractorPartnerSourcesPublicationsLink
WHRN_HUMANLRP4_HUMANBioGRID, HPRD, IntAct12421765 details
WHRN_HUMANCSKP_HUMANHPRD, MINT12641734 22117215 details
WHRN_HUMANGPSM2_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANCOHA1_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANDDT4L_HUMANIntAct32296183 details
WHRN_HUMANEFHC1_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANSPC24_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANTPRN_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANPAXI_HUMANBioGRID, IntAct27173435 32296183 unassigned1312 details
WHRN_HUMANKEAP1_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANGOGA2_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANBEND7_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANBMI1_HUMANBioGRID, IntAct32296183 details
WHRN_HUMANKS6A1_HUMANBioGRID30726710 details
WHRN_HUMANHEMGN_HUMANBioGRID32296183 details
WHRN_HUMANLRC4C_HUMANHPRD15590698 details
WHRN_HUMANTBKB1_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANANR28_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANVIME_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANCRCM_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANH90B2_HUMANIntActunassigned1312 details
WHRN_HUMANWDTC1_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANXPP3_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANTBK1_HUMANBioGRID, IntAct27173435 unassigned1312 details
WHRN_HUMANMYO15_HUMANHPRD15590698 details
WHRN_HUMANMYO7A_HUMANHPRD15590698 details
WHRN_HUMANWHRN_HUMANHPRD15590698 details