• Gene id: 64072

Gene Summary

• Gene Symbol: CDH23   Gene   UCSC   Ensembl
• Aliases: CDHR23, PITA5, USH1D
• Gene name: cadherin related 23
• Alternate names: cadherin-23, cadherin-like 23, cadherin-related family member 23, otocadherin,
• Gene location: 10q22.1 (71396919: 71815946)     Exons: 71     NC_000010.11
• Gene summary(Entrez): This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region
• OMIM: 608237

Protein Summary

• Protein general information: Q9H251  
  • Name: Cadherin 23 (Otocadherin)
  • Length: 3354  
  • Mass: 369494
  • Tissue specificity: Particularly strong expression in the retina (PubMed
• Sequence:

  MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGSSVTQLLAQDMDNDPLVFGVSGEEAS
  RFFAVEPDTGVVWLRQPLDRETKSEFTVEFSVSDHQGVITRKVNIQVGDVNDNAPTFHNQPYSVRIPENTPVGTP
  IFIVNATDPDLGAGGSVLYSFQPPSQFFAIDSARGIVTVIRELDYETTQAYQLTVNATDQDKTRPLSTLANLAII
  ITDVQDMDPIFINLPYSTNIYEHSPPGTTVRIITAIDQDKGRPRGIGYTIVSGNTNSIFALDYISGVLTLNGLLD
  RENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNSSEYSVAITELAQVGFALPLFIQVVD
  KDENLGLNSMFEVYLVGNNSHHFIISPTSVQGKADIRIRVAIPLDYETVDRYDFDLFANESVPDHVGYAKVKITL
  INENDNRPIFSQPLYNISLYENVTVGTSVLTVLATDNDAGTFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYEL
  IQRFTLTIIARDGGGEETTGRVRINVLDVNDNVPTFQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSI
  VSASAFGSYFDISLYEGYGVISVSRPLDYEQISNGLIYLTVMAMDAGNPPLNSTVPVTIEVFDENDNPPTFSKPA
  YFVSVVENIMAGATVLFLNATDLDRSREYGQESIIYSLEGSTQFRINARSGEITTTSLLDRETKSEYILIVRAVD
  GGVGHNQKTGIATVNITLLDINDNHPTWKDAPYYINLVEMTPPDSDVTTVVAVDPDLGENGTLVYSIQPPNKFYS
  LNSTTGKIRTTHAMLDRENPDPHEAELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVL
  EGIPAGVSIYQVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTTTELDRERIAEYQLRVVASDAGTPTK
  SSTSTLTIHVLDVNDETPTFFPAVYNVSVSEDVPREFRVVWLNCTDNDVGLNAELSYFITGGNVDGKFSVGYRDA
  VVRTVVGLDRETTAAYMLILEAIDNGPVGKRHTGTATVFVTVLDVNDNRPIFLQSSYEASVPEDIPEGHSILQLK
  ATDADEGEFGRVWYRILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVED
  INDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILSGAEGKFEIDESTGLIITVNYLDYET
  KTSYMMNVSATDQAPPFNQGFCSVYITLLNELDEAVQFSNASYEAAILENLALGTEIVRVQAYSIDNLNQITYRF
  NAYTSTQAKALFKIDAITGVITVQGLVDREKGDFYTLTVVADDGGPKVDSTVKVYITVLDENDNSPRFDFTSDSA
  VSIPEDCPVGQRVATVKAWDPDAGSNGQVVFSLASGNIAGAFEIVTTNDSIGEVFVARPLDREELDHYILQVVAS
  DRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNENVGGGTAVVQVRATDRDIGINSVLSYYITEGNKDMA
  FRMDRISGEIATRPAPPDRERQSFYHLVATVEDEGTPTLSATTHVYVTIVDENDNAPMFQQPHYEVLLDEGPDTL
  NTSLITIQALDLDEGPNGTVTYAIVAGNIVNTFRIDRHMGVITAAKELDYEISHGRYTLIVTATDQCPILSHRLT
  STTTVLVNVNDINDNVPTFPRDYEGPFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGV
  LRVRKDVELDRETIAFYNLTICARDRGMPPLSSTMLVGIRVLDINDNDPVLLNLPMNITISENSPVSSFVAHVLA
  SDADSGCNARLTFNITAGNRERAFFINATTGIVTVNRPLDRERIPEYKLTISVKDNPENPRIARRDYDLLLIFLS
  DENDNHPLFTKSTYQAEVMENSPAGTPLTVLNGPILALDADQDIYAVVTYQLLGAQSGLFDINSSTGVVTVRSGV
  IIDREAFSPPILELLLLAEDIGLLNSTAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL
  NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRGTVPLSGTAIVTILIDDINDSRPEFL
  NPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVGIVAKDDTDRLVPNQEDAFAVNINTGSVMVKSPMNREL
  VATYEVTLSVIDNASDLPERSVSVPNAKLTVNVLDVNDNTPQFKPFGITYYMERILEGATPGTTLIAVAAVDPDK
  GLNGLVTYTLLDLVPPGYVQLEDSSAGKVIANRTVDYEEVHWLNFTVRASDNGSPPRAAEIPVYLEIVDINDNNP
  IFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAINPTTGDIYVLSSLDREKKDHYILTA
  LAKDNPGDVASNRRENSVQVVIQVLDVNDCRPQFSKPQFSTSVYENEPAGTSVITMMATDQDEGPNGELTYSLEG
  PGVEAFHVDMDSGLVTTQRPLQSYEKFSLTVVATDGGEPPLWGTTMLLVEVIDVNDNRPVFVRPPNGTILHIREE
  IPLRSNVYEVYATDKDEGLNGAVRYSFLKTAGNRDWEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPV
  PYETMQPLQVALEDIDDNEPLFVRPPKGSPQYQLLTVPEHSPRGTLVGNVTGAVDADEGPNAIVYYFIAAGNEEK
  NFHLQPDGCLLVLRDLDREREAIFSFIVKASSNRSWTPPRGPSPTLDLVADLTLQEVRVVLEDINDQPPRFTKAE
  YTAGVATDAKVGSELIQVLALDADIGNNSLVFYSILAIHYFRALANDSEDVGQVFTMGSMDGILRTFDLFMAYSP
  GYFVVDIVARDLAGHNDTAIIGIYILRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKG
  RVNFAQTELLIHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDVQPAISVRLPDDMSALQMAIIVLAIL
  LFLAAMLFVLMNWYYRTVHKRKLKAIVAGSAGNRGFIDIMDMPNTNKYSFDGANPVWLDPFCRNLELAAQAEHED
  DLPENLSEIADLWNSPTRTHGTFGREPAAVKPDDDRYLRAAIQEYDNIAKLGQIIREGPIKGSLLKVVLEDYLRL
  KKLFAQRMVQKASSCHSSISELIQTELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTGTLLATDLNSL
  PEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLEITEL

• Structural information:
  • Protein Domains: (34..13-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (133..23-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (237..34-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR033030  
  • Prosite: PS00232 PS50268
  • PDB: 2KBR 2KBS 2LSR 5TFM 5VVM 5WJ8
  • PDBsum: 2KBR 2KBS 2LSR 5TFM 5VVM 5WJ8
  • DIP: 48786
  • STRING: ENSP00000381768
• Other Databases: GeneCards:  CDH23  Malacards:  CDH23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IMP	biological process
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032420	stereocilium	ISS	cellular component
GO:0050953	sensory perception of light stimulus	IMP	biological process
GO:0050957	equilibrioception	IMP	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IBA	biological process
GO:0045296	cadherin binding	IBA	molecular function
GO:0044331	cell-cell adhesion mediated by cadherin	IBA	biological process
GO:0034332	adherens junction organization	IBA	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0000902	cell morphogenesis	IBA	biological process
GO:0016342	catenin complex	IBA	cellular component
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0006816	calcium ion transport	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007626	locomotory behavior	IEA	biological process
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	biological process
GO:0016020	membrane	NAS	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Nonsyndromic deafness	PMID:17850630
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq