WHRN report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007605Biological processsensory perception of sound
GO_0021694Biological processcerebellar Purkinje cell layer formation
GO_0001895Biological processretina homeostasis
GO_1990227Biological processparanodal junction maintenance
GO_0045184Biological processestablishment of protein localization
GO_0010628Biological processpositive regulation of gene expression
GO_0060088Biological processauditory receptor cell stereocilium organization
GO_0060122Biological processinner ear receptor cell stereocilium organization
GO_0051649Biological processestablishment of localization in cell
GO_0050953Biological processsensory perception of light stimulus
GO_0060113Biological processinner ear receptor cell differentiation
GO_0050910Biological processdetection of mechanical stimulus involved in sensory perception of sound
GO_1990075Cellular componentpericiliary membrane compartment
GO_0032420Cellular componentstereocilium
GO_0032391Cellular componentphotoreceptor connecting cilium
GO_0002141Cellular componentstereocilia ankle link
GO_0005886Cellular componentplasma membrane
GO_0002142Cellular componentstereocilia ankle link complex
GO_0001917Cellular componentphotoreceptor inner segment
GO_0043025Cellular componentneuronal cell body
GO_0005884Cellular componentactin filament
GO_0005929Cellular componentcilium
GO_0045202Cellular componentsynapse
GO_0032426Cellular componentstereocilium tip
GO_0030426Cellular componentgrowth cone
GO_0005737Cellular componentcytoplasm
GO_0036064Cellular componentciliary basal body
GO_1990696Cellular componentUSH2 complex
GO_0042802Molecular functionidentical protein binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameWHRN
Protein nameWhirlin (Autosomal recessive deafness type 31 protein)
Whirlin
DFNB31 protein
SynonymsDFNB31
KIAA1526
DescriptionFUNCTION: 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. .

AccessionsENST00000362057.4 [Q9P202-1]
B9EGE6
ENST00000674036.8
A0A8V8TQ31
Q9P202
ENST00000699486.1
ENST00000265134.10 [Q9P202-3]
A0A669KBA5
A0A8V8TNT0
A0A669KBJ1
ENST00000699485.1
ENST00000374057.3 [Q9P202-2]
ENST00000673697.1