Mus musculus Protein: Cdh23
Summary
InnateDB Protein IDBP-270834.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cdh23
Protein Name cadherin 23 (otocadherin)
Synonyms 4930542A03Rik; ahl; ahl1; bob; bus; mdfw; nmf112; nmf181; nmf252; sals; USH1D; v;
Species Mus musculus
Ensembl Protein ENSMUSP00000101101
InnateDB Gene IDBG-154608 (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. {ECO:0000269PubMed:11138008}.
Subcellular Localization Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
Disease Associations Note=Defects in Cdh23 are the cause of waltzer (v) phenotype. Waltzer mice are characterized by deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear.
Tissue Specificity In adult animals relatively high levels of expression are found in testis, skeletal muscle, heart, eye and thymus, and lower expression in kidney, lung and brain. Found in the sensory hair cells of the inner ear. {ECO:0000269PubMed:11138008}.
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 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 1 [view]
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:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0016339 calcium-dependent cell-cell adhesion
GO:0042472 inner ear morphogenesis
GO:0042491 auditory receptor cell differentiation
GO:0048563 post-embryonic organ morphogenesis
GO:0048839 inner ear development
GO:0050953 sensory perception of light stimulus
GO:0060088 auditory receptor cell stereocilium organization
Cellular Component
GO:0001917 photoreceptor inner segment
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032420 stereocilium
GO:0032426 stereocilium bundle tip
GO:0045202 synapse
GO:0060091 kinocilium
Protein Structure and Domains
PDB ID MGI:1890219
InterPro IPR002126 Cadherin
IPR015919 Cadherin-like
PFAM PF00028
PRINTS PR00205
PIRSF
SMART SM00112
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q99PF4
PhosphoSite PhosphoSite-Q99PF4
TrEMBL
UniProt Splice Variant
Entrez Gene 22295
UniGene Mm.440327
RefSeq XP_006513662
MGI ID 4AXW
MGI Symbol Cdh23
OMIM
CCDS
HPRD
IMGT
EMBL AC079082 AC079818 AC079819 AC153517 AF308939 AK016365 AY026062
GenPept AAG52817 AAK07670