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CDH23
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KBR, 2KBS, 2LSR
Identifiers
Aliases	CDH23, CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
External IDs	OMIM: 605516; MGI: 1890219; HomoloGene: 11142; GeneCards: CDH23; OMA:CDH23 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q22.1 Start 71,396,920 bp End 71,815,947 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 B4|10 30.11 cM Start 60,138,527 bp End 60,532,269 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone left ovary right ovary right hemisphere of cerebellum granulocyte right lobe of liver monocyte sural nerve apex of heart left uterine tube Top expressed in spermatid granulocyte gastrula lumbar subsegment of spinal cord lumbar spinal ganglion zygote seminiferous tubule spermatocyte submandibular gland morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding calcium ion binding protein binding Cellular component plasma membrane membrane stereocilium integral component of membrane Biological process equilibrioception calcium ion transport homophilic cell adhesion via plasma membrane adhesion molecules photoreceptor cell maintenance inner ear receptor cell stereocilium organization locomotory behavior visual perception sensory perception of light stimulus calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules response to stimulus regulation of cytosolic calcium ion concentration cell adhesion hearing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64072 22295 Ensembl ENSG00000107736 ENSMUSG00000012819 UniProt Q9H251 Q6P152 Q99PF4 RefSeq (mRNA) NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836 NM_001252635 NM_023370 RefSeq (protein) NP_001165401 NP_001165402 NP_001165403 NP_001165404 NP_001165405 NP_001165406 NP_001165407 NP_071407 NP_443068 NP_001165401.1 NP_071407.4 NP_001239564 NP_075859 Location (UCSC) Chr 10: 71.4 – 71.82 Mb Chr 10: 60.14 – 60.53 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.

Function

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. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments.

Clinical significance

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. The gene is associated with kidney function decline.

Interactions

CDH23 has been shown to interact with USH1C.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000107736 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000012819 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. S2CID 30614281.
6. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics. 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341.
7. ^ EntrezGene 64072
8. Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. Bibcode:2007Natur.449...87K. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.
9. Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429.
10. Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.
11. Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990.
12. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. Bibcode:2002PNAS...9914946S. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

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. 288A (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". Archives of Otolaryngology–Head & Neck Surgery. 115 (5): 591–5. doi:10.1001/archotol.1989.01860290049013. PMID 2706105.
• Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C (1996). "Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22". Human Molecular Genetics. 5 (7): 1061–4. doi:10.1093/hmg/5.7.1061. PMID 8817348.
• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ (1996). "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10". Human Molecular Genetics. 5 (10): 1689–92. doi:10.1093/hmg/5.10.1689. PMID 8894709.
• Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K (2001). "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D". Nature Genetics. 27 (1): 103–7. doi:10.1038/83660. PMID 11138008. S2CID 7284406.
• Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (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 Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA (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, Hirosawa M, Nagase T, Ohara O (2001). "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs". Molecular Brain Research. 94 (1–2): 85–95. doi:10.1016/S0169-328X(01)00218-2. PMID 11597768.
• von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A (2002). "Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D". Human Mutation. 19 (3): 268–73. doi:10.1002/humu.10049. PMID 11857743. S2CID 24156599.
• Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ (2002). "CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness". The American Journal of Human Genetics. 71 (2): 262–75. doi:10.1086/341558. PMC 379159. PMID 12075507.
• Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. Bibcode:2002PNAS...9914946S. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.
• de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H (February 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. S2CID 310717.
• Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (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". Human Molecular Genetics. 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794.

External links

• Human CDH23 genome location and CDH23 gene details page in the UCSC Genome Browser.

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