cadherin-23; otocadherin (CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340)

Function: - cadherin 23 may function as hair bundle organizer perhaps by cross-linking the stereocilia Structure: contains 27 cadherin domains Compartment: cell membrane Alternative splicing: named isoforms=6 Additional isoforms seem to exist Expression: - particularly strong expression in the retina - found also in the cochlea Pathology: - defects in CDH23 are the cause of a) Usher syndrome type 1D b) non-syndromic sensorineural deafness, autosomal recessive, type 12 (DFNB12)

General

cadherin glycoprotein phosphoprotein

Properties

SIZE: MW = 370 kD entity length = 3354 aa COMPARTMENT: plasma membrane MOTIF: signal sequence {1-23} cadherin domain {34-132} cadherin domain {133-236} MOTIF: N-glycosylation site {N155} N-glycosylation site {N206} cadherin domain {237-348} cadherin domain {349-460} MOTIF: N-glycosylation site {N349} N-glycosylation site {N393} N-glycosylation site {N434} cadherin domain {461-561} MOTIF: N-glycosylation site {N466} N-glycosylation site {N472} cadherin domain {562-671} MOTIF: N-glycosylation site {N652} cadherin domain {672-784} MOTIF: N-glycosylation site {N694} N-glycosylation site {N765} cadherin domain {779-890} MOTIF: N-glycosylation site {N810} N-glycosylation site {N827} cadherin domain {891-995} MOTIF: N-glycosylation site {N941} cadherin domain {996-1102} MOTIF: N-glycosylation site {N1001} N-glycosylation site {N1018} cadherin domain {1103-1208} MOTIF: N-glycosylation site {N1171} cadherin domain {1210-1313} MOTIF: N-glycosylation site {N1282} cadherin domain {1314-1418} MOTIF: N-glycosylation site {N1315} cadherin domain {1420-1527} MOTIF: N-glycosylation site {N1473} cadherin domain {1529-1634} MOTIF: N-glycosylation site {N1534} cadherin domain {1635-1744} MOTIF: N-glycosylation site {N1651} N-glycosylation site {N1667} cadherin domain {1745-1851} MOTIF: N-glycosylation site {N1818} cadherin domain {1852-1959} MOTIF: N-glycosylation site {N1857} N-glycosylation site {N1889} N-glycosylation site {N1902} cadherin domain {1960-2069} MOTIF: N-glycosylation site {N2013} N-glycosylation site {N2050} cadherin domain {2070-2174} MOTIF: N-glycosylation site {N2129} N-glycosylation site {N2168} cadherin domain {2175-2293} MOTIF: N-glycosylation site {N2195} N-glycosylation site {N2263} cadherin domain {2297-2402} MOTIF: N-glycosylation site {N2357} N-glycosylation site {N2369} cadherin domain {2403-2509} cadherin domain {2510-2611} cadherin domain {2614-2722} MOTIF: N-glycosylation site {N2616} cadherin domain {2729-2846} MOTIF: N-glycosylation site {N2749} N-glycosylation site {N2808} cadherin domain {2847-2975} MOTIF: N-glycosylation site {N2877} N-glycosylation site {N2896} N-glycosylation site {N2941} N-glycosylation site {N2981} transmembrane domain {3065-3085} Tyr phosphorylation site {Y3195}

Database Correlations

OMIM correlations MORBIDMAP 605516 UniProt Q9H251 Pfam PF00028