InnateDB Protein
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IDBP-270834.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Cdh23
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Protein Name
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cadherin 23 (otocadherin)
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Synonyms
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4930542A03Rik; ahl; ahl1; bob; bus; mdfw; nmf112; nmf181; nmf252; sals; USH1D; v;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000101101
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InnateDB Gene
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IDBG-154608 (Cdh23)
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Protein Structure
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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}.
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Subcellular Localization |
Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
4
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:1890219
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InterPro |
IPR002126
Cadherin
IPR015919
Cadherin-like
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PFAM |
PF00028
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PRINTS |
PR00205
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PIRSF |
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SMART |
SM00112
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TIGRFAMs |
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Modification |
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SwissProt |
Q99PF4
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PhosphoSite |
PhosphoSite-Q99PF4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
22295
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UniGene |
Mm.440327
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RefSeq |
XP_006513662
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MGI ID |
4AXW
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MGI Symbol |
Cdh23
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OMIM |
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CCDS |
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HPRD |
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IMGT |
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EMBL |
AC079082
AC079818
AC079819
AC153517
AF308939
AK016365
AY026062
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GenPept |
AAG52817
AAK07670
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