Details for: CDH23
Associated with
Other Information
Genular Protein ID: 3026359147
Symbol: CAD23_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11138009
Title: Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
PubMed ID: 11138009
DOI: 10.1038/83667
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 15882574
Title: Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.
PubMed ID: 15882574
PubMed ID: 15164054
Title: The DNA sequence and comparative analysis of human chromosome 10.
PubMed ID: 15164054
DOI: 10.1038/nature02462
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 11347906
Title: 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.
PubMed ID: 11347906
PubMed ID: 11090341
Title: Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
PubMed ID: 11090341
DOI: 10.1086/316954
PubMed ID: 11597768
Title: Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs.
PubMed ID: 11597768
PubMed ID: 21436032
Title: Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
PubMed ID: 21436032
PubMed ID: 19297620
Title: Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.
PubMed ID: 19297620
PubMed ID: 12075507
Title: CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
PubMed ID: 12075507
DOI: 10.1086/341558
PubMed ID: 12522556
Title: Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
PubMed ID: 12522556
PubMed ID: 15660226
Title: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
PubMed ID: 15660226
PubMed ID: 15537665
Title: Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
PubMed ID: 15537665
DOI: 10.1093/hmg/ddi010
PubMed ID: 15829536
Title: Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
PubMed ID: 15829536
DOI: 10.1056/nejmoa043899
PubMed ID: 16679490
Title: 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%.
PubMed ID: 16679490
PubMed ID: 17850630
Title: Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
PubMed ID: 17850630
PubMed ID: 17234811
Title: A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
PubMed ID: 17234811
PubMed ID: 18429043
Title: Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
PubMed ID: 18429043
DOI: 10.1002/humu.20761
PubMed ID: 22899989
Title: Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
PubMed ID: 22899989
PubMed ID: 24767429
Title: Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
PubMed ID: 24767429
PubMed ID: 24916380
Title: New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
PubMed ID: 24916380
DOI: 10.1093/hmg/ddu291
PubMed ID: 28413019
Title: Germline mutations in CDH23, encoding cadherin-related 23, are associated with both familial and sporadic pituitary adenomas.
PubMed ID: 28413019
PubMed ID: 28887846
Title: Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
PubMed ID: 28887846
DOI: 10.1002/humu.23335
Sequence Information:
- Length: 3354
- Mass: 369494
- Checksum: 1B68045A7FFA97BA
- Sequence:
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF NAYTSTQAKA LFKIDAITGV ITVQGLVDRE KGDFYTLTVV ADDGGPKVDS TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT VKAWDPDAGS NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV RATDRDIGIN SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY HLVATVEDEG TPTLSATTHV YVTIVDENDN APMFQQPHYE VLLDEGPDTL NTSLITIQAL DLDEGPNGTV TYAIVAGNIV NTFRIDRHMG VITAAKELDY EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN VPTFPRDYEG PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV LLNLPMNITI SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF INATTGIVTV NRPLDRERIP EYKLTISVKD NPENPRIARR DYDLLLIFLS DENDNHPLFT KSTYQAEVME NSPAGTPLTV LNGPILALDA DQDIYAVVTY QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL LLAEDIGLLN STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG TVPLSGTAIV TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID HDLNPKLEYH IVGIVAKDDT DRLVPNQEDA FAVNINTGSV MVKSPMNREL VATYEVTLSV IDNASDLPER SVSVPNAKLT VNVLDVNDNT PQFKPFGITY YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP PGYVQLEDSS AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI NPTTGDIYVL SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL DVNDCRPQFS KPQFSTSVYE NEPAGTSVIT MMATDQDEGP NGELTYSLEG PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT VVATDGGEPP LWGTTMLLVE VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK DEGLNGAVRY SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV TGAVDADEGP NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS FIVKASSNRS WTPPRGPSPT LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE YTAGVATDAK VGSELIQVLA LDADIGNNSL VFYSILAIHY FRALANDSED VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH NDTAIIGIYI LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV QPAISVRLPD DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA IVAGSAGNRG FIDIMDMPNT NKYSFDGANP VWLDPFCRNL ELAAQAEHED DLPENLSEIA DLWNSPTRTH GTFGREPAAV KPDDDRYLRA AIQEYDNIAK LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC HSSISELIQT ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE ITEL
Genular Protein ID: 1729224568
Symbol: A0A087WYR8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15164054
Title: The DNA sequence and comparative analysis of human chromosome 10.
PubMed ID: 15164054
DOI: 10.1038/nature02462
Sequence Information:
- Length: 1381
- Mass: 152248
- Checksum: F19DF9E5A9301A18
- Sequence:
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF NAYTSTQAKA LFKIDAITVR GWGQGAPFLP I
Genular Protein ID: 186011435
Symbol: Q6P152_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 1381
- Mass: 152248
- Checksum: 364E66F7DF3F752F
- Sequence:
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAK YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF DAYTSTQAKA LFKIDAITVR GWGQGAPFLP I
Genular Protein ID: 3206128193
Symbol: Q8N5B3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15164054
Title: The DNA sequence and comparative analysis of human chromosome 10.
PubMed ID: 15164054
DOI: 10.1038/nature02462
Sequence Information:
- Length: 1061
- Mass: 116612
- Checksum: A97FA5F07EFCB935
- Sequence:
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGAAPA SAHLCRPPGA LPPPLPDGQP D
Genular Protein ID: 1493580123
Symbol: A5D6V9_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 406
- Mass: 44521
- Checksum: 9F34253B38118B81
- Sequence:
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL AQVGFALPLF IQVVDKDEVS PWTHGPCRPT THPDPPPCLG CSGPQL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.