Property Summary

NCBI Gene PubMed Count 66
PubMed Score 103.39
PubTator Score 62.41

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
posterior fossa group B ependymoma 1.900 1.3e-09
adult high grade glioma -1.100 4.8e-03
group 4 medulloblastoma 2.800 9.8e-05
lung carcinoma -1.300 9.5e-17

 GO Function (1)

Gene RIF (41)

PMID Text
26878454 A new diagnosis of sector retinitis pigmentosa was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation.
26264712 Four (3.1 %) of 128 children carried two CDH23 mutant alleles, and SLC26A4 and GJB2 accounted for 18.0 and 17.2 %, respectively and showed profound nonsyndromic sensorineural hearing loss with minimal residual hearing.
25963016 The results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss
25493955 possible role in the deterioration of kidney function [meta-analysis]
24767429 mutations in the CDH23 gene are one of the most important causes of non-syndromic hearing loss in East Asians.
24448297 The results of this study confirm that CDH23 genetic variant may modify the susceptibility to noise-induced hearing loss development in humans
24416283 Description of the spectrum of mutations in CDH23 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
23770805 Hearing loss was found to co-segregate with locus-specific STR markers for CDH23 in 1 Pakistani family.
22899989 mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.
22879593 Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
22581638 Despite that the Ahl allele of Cdh23 had been implicated with ARHI in mice, we found no positive association of the CDH23 tag SNP in intron 7 with ARHI in Han Chinese.
22413011 cadherin-23 is up-regulated in breast cancer tissue versus normal tissue and we propose that cadherin-23-mediated heterotypic adhesion between invading tumor cells and stromal fibroblasts may play a role in the metastatic cascade.
22404213 Knockdown of cadherin-related 23 (CDH23) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells
21940737 One non-syndromic deafness allele (DFNB12) in trans configuration to an Usher syndrome allele (USH1D) of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele.
20844544 Five mutations (three in MYO7A and two in CDH23) were identified in four of five unrelated patients with Usher syndrome type 1.
20801516 Observational study of genetic testing. (HuGE Navigator)
20498078 determined the structure of the extracellular cadherin (EC)1-EC2 domains of cadherin 23, which binds to protocadherin 15 to form tip links of mechanosensory hair cells.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19683999 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
19297620 The structures of the harmonin N-domain alone and in complex with the cadherin 23 internal peptide fragment uncovered the detailed binding mechanism of this interaction between harmonin and cadherin 23.
19268276 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18957941 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18429043 Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations.
18368581 Screening revealed that in Japanese, mutation in CDH23 is the major causes of hearing loss.
18348277 35 SNP-s were identified. The nonsynonymous SNPs localized to the part of the gene encoding the extracellular domain of Cadherin 23, (ectodomains 5, 13, 14, 15, 16, 17, 19, and 22). One amino acid change occurred at a conserved position in ectodomain 5.
18323324 Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in cadherin 23 gene in 6 cases). Two new mutations in the CDH23 gene never reported were found.
18273900 Four missense mutations have been described in USH1 patients in a homozygous state.
17850630 analysis of CDH23 mutations in Japanese patients with non-syndromic hearing loss
17672918 the apparent occurrence of an unusual TG 3' splice site in intron 11 is discussed
16679490 Disease causing mutations were identified in 31 of the 34 families referred: 17 in MYO7A, 6 in CDH23, 6 in PCDH15, and 2 in USH1C.
16598924 individuals with the rs1227049 CC genotype, rs3802711 TT genotype and GG genotype in the terminal position of exon 7 of CDH23 might be more susceptible to noise induced hearing loss.
16598924 Observational study of gene-disease association. (HuGE Navigator)
16550584 Missense mutations in CDH23 have been associated with presbycusis and nonsyndromic prelingual hearing loss (DFNB12), whereas null alleles cause the majority of Usher syndrome (Usher 1D).
16385451 Observational study of gene-disease association. (HuGE Navigator)
15882574 Describes cloning of human and mouse isoforms B1, B2, C1 and C2.
15660226 Observational study of genotype prevalence. (HuGE Navigator)
15537665 CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle.
12522556 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
12485990 the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia
12075507 patients with mutations in CDH23 display a wide range of hearing loss and retinitis pigmentosa phenotypes
11857743 Three novel CDH23 mutations have been identified in patients with Usher syndrome type 1D.

AA Sequence

MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGSSVTQLLAQDMDNDPLVFGVS      1 - 70
GEEASRFFAVEPDTGVVWLRQPLDRETKSEFTVEFSVSDHQGVITRKVNIQVGDVNDNAPTFHNQPYSVR     71 - 140
IPENTPVGTPIFIVNATDPDLGAGGSVLYSFQPPSQFFAIDSARGIVTVIRELDYETTQAYQLTVNATDQ    141 - 210
DKTRPLSTLANLAIIITDVQDMDPIFINLPYSTNIYEHSPPGTTVRIITAIDQDKGRPRGIGYTIVSGNT    211 - 280
NSIFALDYISGVLTLNGLLDRENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNS    281 - 350
SEYSVAITELAQVGFALPLFIQVVDKDENLGLNSMFEVYLVGNNSHHFIISPTSVQGKADIRIRVAIPLD    351 - 420
YETVDRYDFDLFANESVPDHVGYAKVKITLINENDNRPIFSQPLYNISLYENVTVGTSVLTVLATDNDAG    421 - 490
TFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYELIQRFTLTIIARDGGGEETTGRVRINVLDVNDNVPT    491 - 560
FQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSIVSASAFGSYFDISLYEGYGVISVSRPLDYE    561 - 630
QISNGLIYLTVMAMDAGNPPLNSTVPVTIEVFDENDNPPTFSKPAYFVSVVENIMAGATVLFLNATDLDR    631 - 700
SREYGQESIIYSLEGSTQFRINARSGEITTTSLLDRETKSEYILIVRAVDGGVGHNQKTGIATVNITLLD    701 - 770
INDNHPTWKDAPYYINLVEMTPPDSDVTTVVAVDPDLGENGTLVYSIQPPNKFYSLNSTTGKIRTTHAML    771 - 840
DRENPDPHEAELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVLEGIPAGVSIY    841 - 910
QVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTTTELDRERIAEYQLRVVASDAGTPTKSSTST    911 - 980
LTIHVLDVNDETPTFFPAVYNVSVSEDVPREFRVVWLNCTDNDVGLNAELSYFITGGNVDGKFSVGYRDA    981 - 1050
VVRTVVGLDRETTAAYMLILEAIDNGPVGKRHTGTATVFVTVLDVNDNRPIFLQSSYEASVPEDIPEGHS   1051 - 1120
ILQLKATDADEGEFGRVWYRILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRS   1121 - 1190
SVRVIVYVEDINDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILSGAEGKFEIDE   1191 - 1260
STGLIITVNYLDYETKTSYMMNVSATDQAPPFNQGFCSVYITLLNELDEAVQFSNASYEAAILENLALGT   1261 - 1330
EIVRVQAYSIDNLNQITYRFNAYTSTQAKALFKIDAITGVITVQGLVDREKGDFYTLTVVADDGGPKVDS   1331 - 1400
TVKVYITVLDENDNSPRFDFTSDSAVSIPEDCPVGQRVATVKAWDPDAGSNGQVVFSLASGNIAGAFEIV   1401 - 1470
TTNDSIGEVFVARPLDREELDHYILQVVASDRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNEN   1471 - 1540
VGGGTAVVQVRATDRDIGINSVLSYYITEGNKDMAFRMDRISGEIATRPAPPDRERQSFYHLVATVEDEG   1541 - 1610
TPTLSATTHVYVTIVDENDNAPMFQQPHYEVLLDEGPDTLNTSLITIQALDLDEGPNGTVTYAIVAGNIV   1611 - 1680
NTFRIDRHMGVITAAKELDYEISHGRYTLIVTATDQCPILSHRLTSTTTVLVNVNDINDNVPTFPRDYEG   1681 - 1750
PFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGVLRVRKDVELDRETIAFYNLT   1751 - 1820
ICARDRGMPPLSSTMLVGIRVLDINDNDPVLLNLPMNITISENSPVSSFVAHVLASDADSGCNARLTFNI   1821 - 1890
TAGNRERAFFINATTGIVTVNRPLDRERIPEYKLTISVKDNPENPRIARRDYDLLLIFLSDENDNHPLFT   1891 - 1960
KSTYQAEVMENSPAGTPLTVLNGPILALDADQDIYAVVTYQLLGAQSGLFDINSSTGVVTVRSGVIIDRE   1961 - 2030
AFSPPILELLLLAEDIGLLNSTAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL   2031 - 2100
NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRGTVPLSGTAIVTILIDDINDS   2101 - 2170
RPEFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVGIVAKDDTDRLVPNQEDAFAVNINTGSV   2171 - 2240
MVKSPMNRELVATYEVTLSVIDNASDLPERSVSVPNAKLTVNVLDVNDNTPQFKPFGITYYMERILEGAT   2241 - 2310
PGTTLIAVAAVDPDKGLNGLVTYTLLDLVPPGYVQLEDSSAGKVIANRTVDYEEVHWLNFTVRASDNGSP   2311 - 2380
PRAAEIPVYLEIVDINDNNPIFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAI   2381 - 2450
NPTTGDIYVLSSLDREKKDHYILTALAKDNPGDVASNRRENSVQVVIQVLDVNDCRPQFSKPQFSTSVYE   2451 - 2520
NEPAGTSVITMMATDQDEGPNGELTYSLEGPGVEAFHVDMDSGLVTTQRPLQSYEKFSLTVVATDGGEPP   2521 - 2590
LWGTTMLLVEVIDVNDNRPVFVRPPNGTILHIREEIPLRSNVYEVYATDKDEGLNGAVRYSFLKTAGNRD   2591 - 2660
WEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPVPYETMQPLQVALEDIDDNEPLFVRPPKGSP   2661 - 2730
QYQLLTVPEHSPRGTLVGNVTGAVDADEGPNAIVYYFIAAGNEEKNFHLQPDGCLLVLRDLDREREAIFS   2731 - 2800
FIVKASSNRSWTPPRGPSPTLDLVADLTLQEVRVVLEDINDQPPRFTKAEYTAGVATDAKVGSELIQVLA   2801 - 2870
LDADIGNNSLVFYSILAIHYFRALANDSEDVGQVFTMGSMDGILRTFDLFMAYSPGYFVVDIVARDLAGH   2871 - 2940
NDTAIIGIYILRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKGRVNFAQTELL   2941 - 3010
IHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDVQPAISVRLPDDMSALQMAIIVLAILLFLAA   3011 - 3080
MLFVLMNWYYRTVHKRKLKAIVAGSAGNRGFIDIMDMPNTNKYSFDGANPVWLDPFCRNLELAAQAEHED   3081 - 3150
DLPENLSEIADLWNSPTRTHGTFGREPAAVKPDDDRYLRAAIQEYDNIAKLGQIIREGPIKGSLLKVVLE   3151 - 3220
DYLRLKKLFAQRMVQKASSCHSSISELIQTELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTG   3221 - 3290
TLLATDLNSLPEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLEITEL         3291 - 3354
//

Text Mined References (69)

PMID Year Title
26878454 2016 Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.
26264712 2015 Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
25963016 2015 High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
25493955 2015 Genome-wide association study of kidney function decline in individuals of European descent.
24916380 2014 New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
24448297 2014 Genetic variants of CDH23 associated with noise-induced hearing loss.
24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
24322204 2014 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
23770805 2013 Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.
23641064 2013 The composition and role of cross links in mechanoelectrical transduction in vertebrate sensory hair cells.
23451239 2013 Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
22951725 2013 Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
22879593 2012 Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia.
22581638 2012 Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in Han Chinese.
22424883 2012 Genome-wide association study of lung function decline in adults with and without asthma.
22413011 2012 Cadherin-23 mediates heterotypic cell-cell adhesion between breast cancer epithelial cells and fibroblasts.
21940737 2011 Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
21685187 2011 Genome-wide association study of smoking behaviours in patients with COPD.
21436032 2011 Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
20844544 2010 Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20498078 2010 Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19756182 2009 Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D.
19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
19297620 2009 Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.
19268276 2009 Genome-wide association study of smoking initiation and current smoking.
18957941 2010 Genome-wide association scan for five major dimensions of personality.
18484607 2008 UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
18368581 2008 The responsible genes in Japanese deafness patients and clinical application using Invader assay.
18348277 Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise.
18323324 2007 [Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits].
18273900 2008 Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
17234811 2007 A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
16598924 2006 [Association of cadherin CDH23 gene polymorphisms with noise induced hearing loss in Chinese workers].
16550584 2006 Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15882574 2005 Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.
15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12588794 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.
12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
12485990 2002 Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12407180 2002 The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
11597768 2001 Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs.
11386759 2001 Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.
11347906 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.
11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
11138008 2001 Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.
11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
8894709 1996 Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8817348 1996 Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.
2706105 1989 Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.