CDH23

Cadherin-like 23
Identifiers
Symbols	CDH23 ; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; USH1D
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11142
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Cadherin-like 23, also known as CDH23, is a human gene.

This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene. Two alternative splice variants have been identified, encoding different isoforms. Additional variants have been observed but their full-length nature has not been determined.

Further reading

• McHugh RK, Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology. 288 (4): 370–81. doi:10.1002/ar.a.20297. PMID 16550584.
• Marres HA, Cremers CW (1989). "Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers". Arch. Otolaryngol. Head Neck Surg. 115 (5): 591–5. PMID 2706105.
• Chaib H, Place C, Salem N; et al. (1997). "Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22". Hum. Mol. Genet. 5 (7): 1061–4. PMID 8817348.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Wayne S, Der Kaloustian VM, Schloss M; et al. (1997). "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10". Hum. Mol. Genet. 5 (10): 1689–92. PMID 8894709.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bork JM, Peters LM, Riazuddin S; et al. (2001). "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23". Am. J. Hum. Genet. 68 (1): 26–37. PMID 11090341.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Di Palma F, Holme RH, Bryda EC; et al. (2001). "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D". Nat. Genet. 27 (1): 103–7. doi:10.1038/83660. PMID 11138008.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bolz H, von Brederlow B, Ramírez A; et al. (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nat. Genet. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagase T, Nakayama M, Nakajima D; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. PMID 11347906.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wilson SM, Householder DB, Coppola V; et al. (2001). "Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice". Genomics. 74 (2): 228–33. doi:10.1006/geno.2001.6554. PMID 11386759.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nakajima D, Nakayama M, Kikuno R; et al. (2002). "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs". Brain Res. Mol. Brain Res. 94 (1–2): 85–95. PMID 11597768.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• von Brederlow B, Bolz H, Janecke A; et al. (2002). "Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D". Hum. Mutat. 19 (3): 268–73. doi:10.1002/humu.10049. PMID 11857743.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Astuto LM, Bork JM, Weston MD; et al. (2002). "CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness". Am. J. Hum. Genet. 71 (2): 262–75. PMID 12075507.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Siemens J, Kazmierczak P, Reynolds A; et al. (2003). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proc. Natl. Acad. Sci. U.S.A. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMID 12407180.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boëda B, El-Amraoui A, Bahloul A; et al. (2004). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". EMBO J. 21 (24): 6689–99. PMID 12485990.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• de Brouwer AP, Pennings RJ, Roeters M; et al. (2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID 12522556.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weil D, El-Amraoui A, Masmoudi S; et al. (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Hum. Mol. Genet. 12 (5): 463–71. PMID 12588794.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)