CDH23

From Wikipedia, the free encyclopedia

Cadherin-like 23

Identifiers

CDH23; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; USH1D

External IDs

OMIM: 605516 MGI: 1890219 HomoloGene: 11142

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• cilium • basal body • membrane • integral to membrane
Biological Process:	• cell adhesion • homophilic cell adhesion • visual perception • sensory perception of sound • calcium-dependent cell-cell adhesion • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_022124 (mRNA)
NP_071407 (protein)

NM_023370 (mRNA)
NP_075859 (protein)

Location

Chr 10: 72.83 - 73.25 Mb

Chr 10: 59.7 - 60.05 Mb

Pubmed search

[1]

[2]

Cadherin-like 23, also known as CDH23, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: CDH23 cadherin-like 23.

[edit] 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.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.