InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Whrn

Summary

InnateDB Protein

IDBP-154967.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Whrn

Protein Name

whirlin

Synonyms

1110035G07Rik; AW122018; AW742671; C430046P22Rik; Dfnb31; wi;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000081557

InnateDB Gene

IDBG-154965 (Whrn)

Protein Structure

UniProt Annotation

Function

Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. {ECO:0000269PubMed:15590699}.

Subcellular Localization

Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Note=Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. 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).

Disease Associations

Note=Defects in Whrn are the cause of the phenotype whirler (wi). Mutants are characterized by deafness due to malformation of the cochlear inner and outer hair cells and by circling behavior. Stereocilia are shorter and wider than in wild- type animals and there is a decrease in the number of actin filaments in inner and outer hair cells. The number of outer hair cell stereocilia is reduced with increased spacing between them. {ECO:0000269PubMed:12124769, ECO:0000269PubMed:12833159, ECO:0000269PubMed:17326148}.

Tissue Specificity

Expressed in the retina. Colocalizes with RPGR in the photoreceptor connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (at protein level). Detected in the inner ear throughout development from embryonic day 12 to 20 days after birth. Displays a dynamic pattern of expression after birth, demonstrating an ordered appearance and fade-out across stereocilia rows. {ECO:0000269PubMed:12833159, ECO:0000269PubMed:15590699, ECO:0000269PubMed:22323458}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001895	retina homeostasis
GO:0007605	sensory perception of sound
GO:0050953	sensory perception of light stimulus
GO:0060122	inner ear receptor stereocilium organization

Cellular Component

GO:0002142	stereocilia ankle link complex
GO:0005737	cytoplasm
GO:0005884	actin filament
GO:0005929	cilium
GO:0030426	growth cone
GO:0032420	stereocilium
GO:0032421	stereocilium bundle