InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CDH23

Summary

InnateDB Protein

IDBP-231832.6

Last Modified

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

Gene Symbol

CDH23

Protein Name

cadherin-related 23

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000381768

InnateDB Gene

IDBG-77620 (CDH23)

Protein Structure

UniProt Annotation

Function

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.

Disease Associations

Usher syndrome 1D (USH1D) [MIM:601067]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269PubMed:11138009, ECO:0000269PubMed:12075507, ECO:0000269PubMed:15660226, ECO:0000269PubMed:16679490, ECO:0000269PubMed:18429043}. Note=The disease is caused by mutations affecting the gene represented in this entry.Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. {ECO:0000269PubMed:15537665}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: 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:11090341, ECO:0000269PubMed:12075507, ECO:0000269PubMed:12522556, ECO:0000269PubMed:15829536, ECO:0000269PubMed:16679490, ECO:0000269PubMed:17850630}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Particularly strong expression in the retina. Found also in the cochlea.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0006816	calcium ion transport
GO:0007156	homophilic cell adhesion
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0016339	calcium-dependent cell-cell adhesion
GO:0045494	photoreceptor cell maintenance
GO:0050896	response to stimulus
GO:0050953	sensory perception of light stimulus
GO:0050957	equilibrioception
GO:0051480	cytosolic calcium ion homeostasis