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InnateDB Protein
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IDBP-77622.7
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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-related 23
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000224721
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InnateDB Gene
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IDBG-77620 (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.
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| Subcellular Localization |
Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
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| 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.
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| Tissue Specificity |
Particularly strong expression in the retina. Found also in the cochlea.
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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 3 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
5
[view]
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| Protein-Protein |
5
[view]
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| Protein-DNA |
0
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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 |
3 [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 |
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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 |
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| PhosphoSite |
PhosphoSite-Q9H251
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| TrEMBL |
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| UniProt Splice Variant |
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| Entrez Gene |
64072
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| UniGene |
Hs.656032
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| RefSeq |
NP_071407
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| HUGO |
HGNC:13733
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| OMIM |
605516
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| CCDS |
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| HPRD |
05699
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| IMGT |
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| EMBL |
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| GenPept |
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Version 5.4