InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DFNB31

Summary

InnateDB Protein

IDBP-82216.6

Last Modified

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

Gene Symbol

DFNB31

Protein Name

deafness, autosomal recessive 31

Synonyms

CIP98; PDZD7B; USH2D; WHRN; WI;

Species

Homo sapiens

Ensembl Protein

ENSP00000354623

InnateDB Gene

IDBG-82214 (DFNB31)

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:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). {ECO:0000250, ECO:0000269PubMed:17584769}.

Disease Associations

Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: 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. {ECO:0000269PubMed:11973626, ECO:0000269PubMed:12833159, ECO:0000269PubMed:15841483}. Note=The disease is caused by mutations affecting the gene represented in this entry.Usher syndrome 2D (USH2D) [MIM:611383]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [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