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Q9H251 (CAD23_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cadherin-23
Alternative name(s):
Otocadherin
Gene names
Name:CDH23
Synonyms:KIAA1774, KIAA1812
ORF Names:UNQ1894/PRO4340
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3354 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Subunit structure

antiparallel heterodimer with PCDH15 By similarity. Interacts with USH1C and USH1G. Ref.9 Ref.10

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity.

Tissue specificity

Particularly strong expression in the retina. Found also in the cochlea.

Domain

Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain By similarity.

Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15 By similarity.

Involvement in disease

Usher syndrome 1D (USH1D) [MIM:601067]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.11 Ref.13 Ref.14 Ref.17 Ref.19

Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Ref.14

Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.11 Ref.12 Ref.15 Ref.17 Ref.18

Sequence similarities

Contains 27 cadherin domains.

Ontologies

Keywords
   Biological processCell adhesion
Hearing
Sensory transduction
Vision
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Disease mutation
Non-syndromic deafness
Retinitis pigmentosa
Usher syndrome
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   LigandCalcium
Metal-binding
   PTMGlycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcalcium ion transport

Inferred from mutant phenotype PubMed 17234811. Source: DFLAT

calcium-dependent cell-cell adhesion

Non-traceable author statement Ref.1. Source: UniProtKB

cytosolic calcium ion homeostasis

Inferred from mutant phenotype PubMed 17234811. Source: DFLAT

equilibrioception

Inferred from mutant phenotype Ref.17. Source: HGNC

homophilic cell adhesion

Inferred from electronic annotation. Source: InterPro

photoreceptor cell maintenance

Inferred from mutant phenotype Ref.17. Source: HGNC

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

sensory perception of light stimulus

Inferred from mutant phenotype Ref.17. Source: HGNC

sensory perception of sound

Inferred from mutant phenotype PubMed 17234811. Source: DFLAT

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

membrane

Non-traceable author statement Ref.1. Source: UniProtKB

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

stereocilium

Inferred from sequence or structural similarity PubMed 12485990. Source: HGNC

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9H251-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H251-2)

The sequence of this isoform differs from the canonical sequence as follows:
     379-380: Missing.
Isoform 3 (identifier: Q9H251-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1403-1403: Missing.
Isoform 4 (identifier: Q9H251-4)

The sequence of this isoform differs from the canonical sequence as follows:
     3212-3246: Missing.
Isoform 5 (identifier: Q9H251-5)

The sequence of this isoform differs from the canonical sequence as follows:
     484-530: ATDNDAGTFG...LDYELIQRFT → VSPRFTAGPL...QIPELCLLVY
     531-3354: Missing.
Isoform 6 (identifier: Q9H251-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1124-1212: LKATDADEGE...DEAPVFTQQQ → EEDLASPCIS...QGSEGEKGGP
     1213-3354: Missing.
Note: No experimental confirmation available.
Isoform 7 (identifier: Q9H251-7)

Also known as: B1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-2240: Missing.
Isoform 8 (identifier: Q9H251-8)

The sequence of this isoform differs from the canonical sequence as follows:
     143-143: E → EVGATG
     379-380: Missing.
Note: No experimental confirmation available.
Isoform 9 (identifier: Q9H251-9)

Also known as: B2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-2240: Missing.
     3212-3246: Missing.
Isoform 10 (identifier: Q9H251-10)

Also known as: C1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MGRHVATSCHVAWLLVLISGCWGQ → MRSWFQQDPMVGACTTGTRASHPK
     25-3127: Missing.
Isoform 11 (identifier: Q9H251-11)

Also known as: C2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MGRHVATSCHVAWLLVLISGCWGQ → MRSWFQQDPMVGACTTGTRASHPK
     25-3127: Missing.
     3212-3246: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 33543331Cadherin-23
PRO_0000003824

Regions

Topological domain24 – 30643041Extracellular Potential
Transmembrane3065 – 308521Helical; Potential
Topological domain3086 – 3354269Cytoplasmic Potential
Domain34 – 13299Cadherin 1
Domain133 – 236104Cadherin 2
Domain237 – 348112Cadherin 3
Domain349 – 460112Cadherin 4
Domain461 – 561101Cadherin 5
Domain562 – 671110Cadherin 6
Domain672 – 784113Cadherin 7
Domain779 – 890112Cadherin 8
Domain891 – 995105Cadherin 9
Domain996 – 1102107Cadherin 10
Domain1103 – 1208106Cadherin 11
Domain1210 – 1313104Cadherin 12
Domain1314 – 1418105Cadherin 13
Domain1420 – 1527108Cadherin 14
Domain1529 – 1634106Cadherin 15
Domain1635 – 1744110Cadherin 16
Domain1745 – 1851107Cadherin 17
Domain1852 – 1959108Cadherin 18
Domain1960 – 2069110Cadherin 19
Domain2070 – 2174105Cadherin 20
Domain2175 – 2293119Cadherin 21
Domain2297 – 2402106Cadherin 22
Domain2403 – 2509107Cadherin 23
Domain2510 – 2611102Cadherin 24
Domain2614 – 2722109Cadherin 25
Domain2729 – 2846118Cadherin 26
Domain2847 – 2975129Cadherin 27

Amino acid modifications

Glycosylation1551N-linked (GlcNAc...) Potential
Glycosylation2061N-linked (GlcNAc...) Potential
Glycosylation3491N-linked (GlcNAc...) Potential
Glycosylation3931N-linked (GlcNAc...) Potential
Glycosylation4341N-linked (GlcNAc...) Potential
Glycosylation4661N-linked (GlcNAc...) Potential
Glycosylation4721N-linked (GlcNAc...) Potential
Glycosylation6521N-linked (GlcNAc...) Potential
Glycosylation6941N-linked (GlcNAc...) Potential
Glycosylation7651N-linked (GlcNAc...) Potential
Glycosylation8101N-linked (GlcNAc...) Potential
Glycosylation8271N-linked (GlcNAc...) Potential
Glycosylation9411N-linked (GlcNAc...) Potential
Glycosylation10011N-linked (GlcNAc...) Potential
Glycosylation10181N-linked (GlcNAc...) Potential
Glycosylation11711N-linked (GlcNAc...) Potential
Glycosylation12821N-linked (GlcNAc...) Potential
Glycosylation13151N-linked (GlcNAc...) Potential
Glycosylation14731N-linked (GlcNAc...) Potential
Glycosylation15341N-linked (GlcNAc...) Potential
Glycosylation16511N-linked (GlcNAc...) Potential
Glycosylation16671N-linked (GlcNAc...) Potential
Glycosylation18181N-linked (GlcNAc...) Potential
Glycosylation18571N-linked (GlcNAc...) Potential
Glycosylation18891N-linked (GlcNAc...) Potential
Glycosylation19021N-linked (GlcNAc...) Potential
Glycosylation20131N-linked (GlcNAc...) Potential
Glycosylation20501N-linked (GlcNAc...) Potential
Glycosylation21291N-linked (GlcNAc...) Potential
Glycosylation21681N-linked (GlcNAc...) Potential
Glycosylation21951N-linked (GlcNAc...) Potential
Glycosylation22631N-linked (GlcNAc...) Potential
Glycosylation23571N-linked (GlcNAc...) Potential
Glycosylation23691N-linked (GlcNAc...) Potential
Glycosylation26161N-linked (GlcNAc...) Potential
Glycosylation27491N-linked (GlcNAc...) Potential
Glycosylation28081N-linked (GlcNAc...) Potential
Glycosylation28771N-linked (GlcNAc...) Potential
Glycosylation28961N-linked (GlcNAc...) Potential
Glycosylation29411N-linked (GlcNAc...) Potential
Glycosylation29811N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 22402240Missing in isoform 7 and isoform 9.
VSP_044260
Alternative sequence1 – 2424MGRHV…GCWGQ → MRSWFQQDPMVGACTTGTRA SHPK in isoform 10 and isoform 11.
VSP_047923
Alternative sequence25 – 31273103Missing in isoform 10 and isoform 11.
VSP_047924
Alternative sequence1431E → EVGATG in isoform 8.
VSP_044261
Alternative sequence379 – 3802Missing in isoform 2 and isoform 8.
VSP_000645
Alternative sequence484 – 53047ATDND…IQRFT → VSPRFTAGPLSSPGPTVVRH PEGFCPRDLSNQGRRHPQIP ELCLLVY in isoform 5.
VSP_013268
Alternative sequence531 – 33542824Missing in isoform 5.
VSP_013269
Alternative sequence1124 – 121289LKATD…FTQQQ → EEDLASPCISPAPPRRAFQS SGEKETSQFPGKELRREPGP SKAQNRAAFTEPLAEAPLLG SKQAQEERAPLPREQAQQLQ GSEGEKGGP in isoform 6.
VSP_035289
Alternative sequence1213 – 33542142Missing in isoform 6.
VSP_035290
Alternative sequence14031Missing in isoform 3.
VSP_000646
Alternative sequence3212 – 324635Missing in isoform 4, isoform 9 and isoform 11.
VSP_000647
Natural variant31R → C. Ref.1 Ref.2 Ref.11
Corresponds to variant rs7902757 [ dbSNP | Ensembl ].
VAR_012166
Natural variant1241D → G in DFNB12. Ref.11
VAR_027317
Natural variant2401P → L in DFNB12. Ref.18
Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
VAR_046404
Natural variant2471E → K in USH1D. Ref.17
VAR_027318
Natural variant3011R → Q in DFNB12. Ref.18
VAR_046405
Natural variant3661A → T in USH1D. Ref.13 Ref.19
Corresponds to variant rs143282422 [ dbSNP | Ensembl ].
VAR_024030
Natural variant4521N → S in DFNB12. Ref.11
VAR_027319
Natural variant4801L → Q in DFNB12. Ref.11
VAR_027320
Natural variant4841A → P in USH1D. Ref.11
VAR_027321
Natural variant4901G → A. Ref.1 Ref.11 Ref.19
Corresponds to variant rs1227049 [ dbSNP | Ensembl ].
VAR_012167
Natural variant4961S → N. Ref.1 Ref.6 Ref.11 Ref.19
Corresponds to variant rs10999947 [ dbSNP | Ensembl ].
VAR_012168
Natural variant5821R → Q in DFNB12. Ref.11
VAR_027322
Natural variant7461V → I. Ref.19
VAR_046406
Natural variant7551H → Y in USH1D. Ref.19
VAR_046407
Natural variant9441S → G. Ref.19
VAR_046408
Natural variant9601E → K. Ref.19
VAR_046409
Natural variant9901D → N in DFNB12. Ref.7
VAR_012169
Natural variant10601R → W in DFNB12. Ref.11 Ref.17
VAR_027323
Natural variant10901V → I in USH1D. Ref.19
VAR_046410
Natural variant10981N → S in USH1D. Ref.19
Corresponds to variant rs41281310 [ dbSNP | Ensembl ].
VAR_046411
Natural variant11861G → D in DFNB12. Ref.11
VAR_027324
Natural variant12061P → R in USH1D. Ref.11
VAR_027325
Natural variant12091T → A in USH1D. Ref.11 Ref.13
Corresponds to variant rs41281314 [ dbSNP | Ensembl ].
VAR_024031
Natural variant12221A → T. Ref.1 Ref.11 Ref.19
Corresponds to variant rs41281316 [ dbSNP | Ensembl ].
VAR_012170
Natural variant12361R → Q. Ref.19
VAR_046412
Natural variant12811Missing in USH1D. Ref.1
VAR_012171
Natural variant12821N → S. Ref.19
VAR_046413
Natural variant13411D → N in DFNB12. Ref.12
VAR_027326
Natural variant13491R → C. Ref.1 Ref.19
Corresponds to variant rs41281318 [ dbSNP | Ensembl ].
VAR_012172
Natural variant13511N → D. Ref.1 Ref.7 Ref.19
Corresponds to variant rs1227065 [ dbSNP | Ensembl ].
VAR_012173
Natural variant14171R → W. Ref.18
VAR_046414
Natural variant14371R → Q. Ref.11 Ref.19
Corresponds to variant rs56181447 [ dbSNP | Ensembl ].
VAR_027327
Natural variant14961Q → H in USH1D. Ref.1 Ref.19
VAR_012174
Natural variant15071R → Q in USH1D. Ref.13
VAR_024032
Natural variant15201I → M. Ref.19
VAR_046415
Natural variant15741M → T. Ref.19
VAR_046416
Natural variant15751A → T. Ref.1 Ref.7
Corresponds to variant rs1227051 [ dbSNP | Ensembl ].
VAR_012175
Natural variant15861A → P in DFNB12. Ref.11
VAR_027328
Natural variant15951E → K in DFNB12. Ref.11
VAR_027329
Natural variant16201V → M. Ref.11
Corresponds to variant rs41281330 [ dbSNP | Ensembl ].
VAR_027330
Natural variant16711T → S. Ref.1
VAR_012176
Natural variant16751V → I. Ref.1 Ref.11 Ref.19
Corresponds to variant rs17712523 [ dbSNP | Ensembl ].
VAR_012177
Natural variant17111V → I. Ref.18
VAR_046417
Natural variant17161Q → P in DFNB12. Ref.18
VAR_046418
Natural variant17461R → Q in USH1D; mild retinal affection. Ref.1
VAR_012178
Natural variant17881P → L in USH1D. Ref.19
VAR_046419
Natural variant18041R → Q. Ref.1 Ref.11
Corresponds to variant rs3802711 [ dbSNP | Ensembl ].
VAR_012179
Natural variant18071V → M. Ref.18
VAR_046420
Natural variant18461D → N in DFNB12. Ref.11
VAR_027331
Natural variant18761S → N. Ref.18
VAR_046421
Natural variant18871T → I. Ref.11
VAR_027332
Natural variant18881F → S in DFNB12. Ref.15
VAR_027333
Natural variant19081V → I. Ref.18
VAR_046422
Natural variant19121R → W in USH1D. Ref.19
VAR_046423
Natural variant19301D → N in USH1D. Ref.19
VAR_046424
Natural variant19991T → S. Ref.1 Ref.11 Ref.19
Corresponds to variant rs11592462 [ dbSNP | Ensembl ].
VAR_012180
Natural variant20171G → S in USH1D; most likely affects splicing. Ref.17 Ref.19
VAR_027334
Natural variant20291R → W in DFNB12. Ref.18
VAR_046425
Natural variant20441E → K. Ref.1 Ref.11
Corresponds to variant rs10466026 [ dbSNP | Ensembl ].
VAR_012181
Natural variant20451D → N in DFNB12. Ref.7
VAR_012182
Natural variant20661R → Q. Ref.11
VAR_027335
Natural variant21251I → M.
Corresponds to variant rs16929354 [ dbSNP | Ensembl ].
VAR_046426
Natural variant21481D → N in DFNB12. Ref.12
VAR_027336
Natural variant21711R → C. Ref.18
VAR_046427
Natural variant22021D → N in DFNB12. Ref.7
VAR_012183
Natural variant22271Q → P. Ref.18
VAR_046428
Natural variant22831V → I. Ref.11 Ref.12 Ref.18 Ref.19
Corresponds to variant rs41281334 [ dbSNP | Ensembl ].
VAR_027337
Natural variant23581R → Q. Ref.1 Ref.11 Ref.12
Corresponds to variant rs4747194 [ dbSNP | Ensembl ].
VAR_012184
Natural variant23761D → N.
Corresponds to variant rs9663920 [ dbSNP | Ensembl ].
VAR_027338
Natural variant23761D → V in USH1D. Ref.19
VAR_046429
Natural variant23801P → L. Ref.1 Ref.11 Ref.12 Ref.19
Corresponds to variant rs4747195 [ dbSNP | Ensembl ].
VAR_012185
Natural variant24651R → W in DFNB12. Ref.11
VAR_027339
Natural variant24731L → P. Ref.18
VAR_046430
Natural variant24891R → H. Ref.18
VAR_046431
Natural variant25171S → G in USH1D. Ref.11
VAR_027340
Natural variant25301T → I in USH1D. Ref.19
VAR_046432
Natural variant25881E → Q. Ref.1 Ref.11 Ref.19
Corresponds to variant rs41281338 [ dbSNP | Ensembl ].
VAR_012186
Natural variant26081R → H in DFNB12. Ref.11
VAR_027341
Natural variant26691I → V. Ref.18
VAR_046433
Natural variant27441G → S in USH1D; atypical. Ref.11
VAR_027342
Natural variant27711G → S in USH1D. Ref.19
VAR_046434
Natural variant28011F → V. Ref.18
Corresponds to variant rs3802707 [ dbSNP | Ensembl ].
VAR_046435
Natural variant28331R → G in USH1D; atypical. Ref.11
VAR_027343
Natural variant28531A → Q Requires 2 nucleotide substitutions.
VAR_046436
Natural variant29331V → E. Ref.11
VAR_027344
Natural variant29501I → N in DFNB12. Ref.7
VAR_012187
Natural variant29541D → N. Ref.11
VAR_027345
Natural variant29561R → C in DFNB12. Ref.7
VAR_012188
Natural variant29621N → S. Ref.11
VAR_027346
Natural variant29681V → A in USH1D. Ref.19
VAR_046437
Natural variant30591P → T in DFNB12. Ref.7
VAR_012189
Natural variant31251F → L. Ref.1 Ref.19
Corresponds to variant rs45583140 [ dbSNP | Ensembl ].
VAR_012190
Natural variant31751R → C. Ref.18
VAR_046438
Natural variant31751R → H in USH1D. Ref.11
VAR_027347
Natural variant31891R → W in USH1D and USH1DF. Ref.13 Ref.14
VAR_024033
Natural variant32451S → F in USH1D. Ref.13
VAR_024034

Experimental info

Sequence conflict9851V → L in AAG27034. Ref.7
Sequence conflict14031K → V in AAG27034. Ref.7
Sequence conflict2173 – 223664EFLNP…AVNIN → ASWEGQSHVTQAYEEAVGPP QPQVPDSTGDRHPLWGLGGF GQEHPWEGQILGGSSQAEPG LVWS in BAB61902. Ref.8

Secondary structure

....... 3354
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2012. Version 2.
Checksum: 1B68045A7FFA97BA

FASTA3,354369,494
        10         20         30         40         50         60 
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM 

        70         80         90        100        110        120 
DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI 

       130        140        150        160        170        180 
QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI 

       190        200        210        220        230        240 
DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP 

       250        260        270        280        290        300 
YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD 

       310        320        330        340        350        360 
RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL 

       370        380        390        400        410        420 
AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD 

       430        440        450        460        470        480 
YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL 

       490        500        510        520        530        540 
TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG 

       550        560        570        580        590        600 
EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI 

       610        620        630        640        650        660 
VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE 

       670        680        690        700        710        720 
VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR 

       730        740        750        760        770        780 
INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD 

       790        800        810        820        830        840 
APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML 

       850        860        870        880        890        900 
DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL 

       910        920        930        940        950        960 
EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE 

       970        980        990       1000       1010       1020 
YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT 

      1030       1040       1050       1060       1070       1080 
DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK 

      1090       1100       1110       1120       1130       1140 
RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR 

      1150       1160       1170       1180       1190       1200 
ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED 

      1210       1220       1230       1240       1250       1260 
INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE 

      1270       1280       1290       1300       1310       1320 
STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA 

      1330       1340       1350       1360       1370       1380 
AILENLALGT EIVRVQAYSI DNLNQITYRF NAYTSTQAKA LFKIDAITGV ITVQGLVDRE 

      1390       1400       1410       1420       1430       1440 
KGDFYTLTVV ADDGGPKVDS TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT 

      1450       1460       1470       1480       1490       1500 
VKAWDPDAGS NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS 

      1510       1520       1530       1540       1550       1560 
DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV RATDRDIGIN 

      1570       1580       1590       1600       1610       1620 
SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY HLVATVEDEG TPTLSATTHV 

      1630       1640       1650       1660       1670       1680 
YVTIVDENDN APMFQQPHYE VLLDEGPDTL NTSLITIQAL DLDEGPNGTV TYAIVAGNIV 

      1690       1700       1710       1720       1730       1740 
NTFRIDRHMG VITAAKELDY EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN 

      1750       1760       1770       1780       1790       1800 
VPTFPRDYEG PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV 

      1810       1820       1830       1840       1850       1860 
LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV LLNLPMNITI 

      1870       1880       1890       1900       1910       1920 
SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF INATTGIVTV NRPLDRERIP 

      1930       1940       1950       1960       1970       1980 
EYKLTISVKD NPENPRIARR DYDLLLIFLS DENDNHPLFT KSTYQAEVME NSPAGTPLTV 

      1990       2000       2010       2020       2030       2040 
LNGPILALDA DQDIYAVVTY QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL 

      2050       2060       2070       2080       2090       2100 
LLAEDIGLLN STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL 

      2110       2120       2130       2140       2150       2160 
NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG TVPLSGTAIV 

      2170       2180       2190       2200       2210       2220 
TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID HDLNPKLEYH IVGIVAKDDT 

      2230       2240       2250       2260       2270       2280 
DRLVPNQEDA FAVNINTGSV MVKSPMNREL VATYEVTLSV IDNASDLPER SVSVPNAKLT 

      2290       2300       2310       2320       2330       2340 
VNVLDVNDNT PQFKPFGITY YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP 

      2350       2360       2370       2380       2390       2400 
PGYVQLEDSS AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP 

      2410       2420       2430       2440       2450       2460 
IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI NPTTGDIYVL 

      2470       2480       2490       2500       2510       2520 
SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL DVNDCRPQFS KPQFSTSVYE 

      2530       2540       2550       2560       2570       2580 
NEPAGTSVIT MMATDQDEGP NGELTYSLEG PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT 

      2590       2600       2610       2620       2630       2640 
VVATDGGEPP LWGTTMLLVE VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK 

      2650       2660       2670       2680       2690       2700 
DEGLNGAVRY SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV 

      2710       2720       2730       2740       2750       2760 
PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV TGAVDADEGP 

      2770       2780       2790       2800       2810       2820 
NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS FIVKASSNRS WTPPRGPSPT 

      2830       2840       2850       2860       2870       2880 
LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE YTAGVATDAK VGSELIQVLA LDADIGNNSL 

      2890       2900       2910       2920       2930       2940 
VFYSILAIHY FRALANDSED VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH 

      2950       2960       2970       2980       2990       3000 
NDTAIIGIYI LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG 

      3010       3020       3030       3040       3050       3060 
RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV QPAISVRLPD 

      3070       3080       3090       3100       3110       3120 
DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA IVAGSAGNRG FIDIMDMPNT 

      3130       3140       3150       3160       3170       3180 
NKYSFDGANP VWLDPFCRNL ELAAQAEHED DLPENLSEIA DLWNSPTRTH GTFGREPAAV 

      3190       3200       3210       3220       3230       3240 
KPDDDRYLRA AIQEYDNIAK LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC 

      3250       3260       3270       3280       3290       3300 
HSSISELIQT ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL 

      3310       3320       3330       3340       3350 
PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE ITEL 

« Hide

Isoform 2 [UniParc].

Checksum: 2E71F065CB48A95A
Show »

FASTA3,352369,267
Isoform 3 [UniParc].

Checksum: 9E75DD8B3E662D33
Show »

FASTA3,353369,366
Isoform 4 [UniParc].

Checksum: 2EE8C5D6390FBCD3
Show »

FASTA3,319365,546
Isoform 5 [UniParc].

Checksum: A02B8FDD86A37181
Show »

FASTA53058,579
Isoform 6 [UniParc].

Checksum: 6EECD6D0BBC429A7
Show »

FASTA1,212133,118
Isoform 7 (B1) [UniParc].

Checksum: 146974C979A46F4C
Show »

FASTA1,114123,516
Isoform 8 [UniParc].

Checksum: 46EECDE09AEF4945
Show »

FASTA3,357369,652
Isoform 9 (B2) [UniParc].

Checksum: 60B22E61E279DA82
Show »

FASTA1,079119,569
Isoform 10 (C1) [UniParc].

Checksum: FD4C927F1054FC01
Show »

FASTA25127,847
Isoform 11 (C2) [UniParc].

Checksum: FDE951E65334C527
Show »

FASTA21623,900

References

« Hide 'large scale' references
[1]"Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D."
Bolz H., Von Brederlow B., Ramirez A., Bryda E.C., Kutsche K., Nothwang H.G., Seeliger M., Del C.-Salcedo Cabrera M., Vila Caballero M., Pelaez Molina O., Gal A., Kubisch C.
Nat. Genet. 27:108-112(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS USH1D MET-1281 DEL; HIS-1496 AND GLN-1746, VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; CYS-1349; ASP-1351; THR-1575; SER-1671; ILE-1675; GLN-1804; SER-1999; LYS-2044; GLN-2358; LEU-2380; GLN-2588 AND LEU-3125.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANT CYS-3.
[3]"Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development."
Lagziel A., Ahmed Z.M., Schultz J.M., Morell R.J., Belyantseva I.A., Friedman T.B.
Dev. Biol. 280:295-306(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 9; 10 AND 11).
Tissue: Retina.
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
Tissue: Eye.
[6]"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."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-3354 (ISOFORM 6), VARIANT ASN-496.
Tissue: Brain.
[7]"Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23."
Bork J.M., Peters L.M., Riazuddin S., Bernstein S.L., Ahmed Z.M., Ness S.L., Polomeno R., Ramesh A., Schloss M., Srisailpathy C.R.S., Wayne S., Bellman S., Desmukh D., Ahmed Z., Khan S.N., Kaloustian V.M.D., Li X.C., Lalwani A. expand/collapse author list , Riazuddin S., Bitner-Glindzicz M., Nance W.E., Liu X.-Z., Wistow G., Smith R.J.H., Griffith A.J., Wilcox E.R., Friedman T.B., Morell R.J.
Am. J. Hum. Genet. 68:26-37(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 803-3354, ALTERNATIVE SPLICING, VARIANTS DFNB12 ASN-990; ASP-1351; THR-1575; ASN-2045; ASN-2202; ASN-2950; CYS-2956 AND THR-3059.
[8]"Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs."
Nakajima D., Nakayama M., Kikuno R., Hirosawa M., Nagase T., Ohara O.
Brain Res. Mol. Brain Res. 94:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2173-3354 (ISOFORM 4).
Tissue: Brain.
[9]"Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia."
Caberlotto E., Michel V., Foucher I., Bahloul A., Goodyear R.J., Pepermans E., Michalski N., Perfettini I., Alegria-Prevot O., Chardenoux S., Do Cruzeiro M., Hardelin J.P., Richardson G.P., Avan P., Weil D., Petit C.
Proc. Natl. Acad. Sci. U.S.A. 108:5825-5830(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH USH1G.
[10]"Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23."
Pan L., Yan J., Wu L., Zhang M.
Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 3183-3354 IN COMPLEX WITH USH1C, INTERACTION WITH USH1C.
[11]"CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness."
Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R., Orten D.J., Ohliger S.J., Riazuddin S., Morell R.J., Khan S., Riazuddin S., Kremer H., van Hauwe P., Moller C.G., Cremers C.W.R.J., Ayuso C., Heckenlively J.R., Rohrschneider K. expand/collapse author list , Spandau U., Greenberg J., Ramesar R., Reardon W., Bitoun P., Millan J., Legge R., Friedman T.B., Kimberling W.J.
Am. J. Hum. Genet. 71:262-275(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB12 GLY-124; SER-452; GLN-480; GLN-582; TRP-1060; ASP-1186; PRO-1586; LYS-1595; ASN-1846; TRP-2465 AND HIS-2608, VARIANTS USH1D PRO-484; ARG-1206; ALA-1209; GLY-2517; SER-2744; GLY-2833 AND HIS-3175, VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; GLN-1437; MET-1620; ILE-1675; GLN-1804; ILE-1887; SER-1999; LYS-2044; GLN-2066; ILE-2283; GLN-2358; LEU-2380; GLN-2588; GLU-2933; ASN-2954 AND SER-2962.
[12]"Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family."
de Brouwer A.P.M., Pennings R.J.E., Roeters M., Van Hauwe P., Astuto L.M., Hoefsloot L.H., Huygen P.L.M., van den Helm B., Deutman A.F., Bork J.M., Kimberling W.J., Cremers F.P.M., Cremers C.W.R.J., Kremer H.
Hum. Genet. 112:156-163(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB12 ASN-1341 AND ASN-2148, VARIANTS ILE-2283; GLN-2358 AND LEU-2380.
[13]"Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."
Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M., Balkany T., Liu X.Z.
Hum. Genet. 116:292-299(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1D THR-366; ALA-1209; GLN-1507; TRP-3189 AND PHE-3245.
[14]"Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans."
Zheng Q.Y., Yan D., Ouyang X.M., Du L.L., Yu H., Chang B., Johnson K.R., Liu X.Z.
Hum. Mol. Genet. 14:103-111(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT USH1DF TRP-3189.
[15]"Modification of human hearing loss by plasma-membrane calcium pump PMCA2."
Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R., Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C., Penniston J.T., Griffith A.J.
N. Engl. J. Med. 352:1557-1564(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNB12 SER-1888.
[16]Erratum
Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R., Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C., Penniston J.T., Griffith A.J.
N. Engl. J. Med. 352:2362-2362(2005)
[17]"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%."
Roux A.-F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A., Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S., Claustres M.
J. Med. Genet. 43:763-768(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1D LYS-247 AND SER-2017, VARIANT DFNB12 TRP-1060.
[18]"Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss."
Wagatsuma M., Kitoh R., Suzuki H., Fukuoka H., Takumi Y., Usami S.
Clin. Genet. 72:339-344(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB12 LEU-240; GLN-301; PRO-1716 AND TRP-2029, VARIANTS TRP-1417; ILE-1711; MET-1807; ASN-1876; ILE-1908; CYS-2171; PRO-2227; ILE-2283; PRO-2473; HIS-2489; VAL-2669; VAL-2801 AND CYS-3175.
[19]"Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I."
Oshima A., Jaijo T., Aller E., Millan J.M., Carney C., Usami S., Moller C., Kimberling W.J.
Hum. Mutat. 29:E37-E46(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS USH1D THR-366; TYR-755; ILE-1090; SER-1098; HIS-1496; LEU-1788; TRP-1912; ASN-1930; SER-2017; VAL-2376; ILE-2530; SER-2771 AND ALA-2968, VARIANTS ALA-490; ASN-496; ILE-746; GLY-944; LYS-960; THR-1222; GLN-1236; SER-1282; CYS-1349; ASP-1351; GLN-1437; MET-1520; THR-1574; ILE-1675; SER-1999; ILE-2283; LEU-2380; GLN-2588 AND LEU-3125.
+Additional computationally mapped references.

Web resources

Mutations of the CDH23 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF312024 mRNA. Translation: AAG48303.1.
AY358617 mRNA. Translation: AAQ88980.1.
AY563161 mRNA. Translation: AAT72161.1.
AY563162 mRNA. Translation: AAT72162.1.
AY563165 mRNA. Translation: AAT72165.1.
AY563166 mRNA. Translation: AAT72166.1.
AC012469 Genomic DNA. No translation available.
AL359183 Genomic DNA. No translation available.
AL731541 Genomic DNA. No translation available.
AL772287 Genomic DNA. No translation available.
BC011570 mRNA. Translation: AAH11570.1.
BC136976 mRNA. Translation: AAI36977.1.
BC136977 mRNA. Translation: AAI36978.1.
AB058715 mRNA. Translation: BAB47441.1.
AY010111 mRNA. Translation: AAG27034.2.
AB053445 mRNA. Translation: BAB61902.1.
RefSeqNP_001165401.1. NM_001171930.1.
NP_001165402.1. NM_001171931.1.
NP_001165403.1. NM_001171932.1.
NP_001165404.1. NM_001171933.1.
NP_001165405.1. NM_001171934.1.
NP_001165406.1. NM_001171935.1.
NP_001165407.1. NM_001171936.1.
NP_071407.4. NM_022124.5.
NP_443068.1. NM_052836.3.
UniGeneHs.656032.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2KBRNMR-B3183-3200[»]
2KBSNMR-B3347-3354[»]
2LSRNMR-B3212-3227[»]
ProteinModelPortalQ9H251.
SMRQ9H251. Positions 24-2950.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122042. 3 interactions.
DIPDIP-48786N.
IntActQ9H251. 1 interaction.
MINTMINT-4830802.
STRING9606.ENSP00000381822.

PTM databases

PhosphoSiteQ9H251.

Polymorphism databases

DMDM408359994.

Proteomic databases

PaxDbQ9H251.
PRIDEQ9H251.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398788; ENSP00000381768; ENSG00000107736. [Q9H251-7]
ENST00000398809; ENSP00000381789; ENSG00000107736. [Q9H251-5]
GeneID64072.
KEGGhsa:64072.
UCSCuc001jrw.4. human. [Q9H251-5]
uc001jrx.4. human. [Q9H251-1]
uc001jsg.4. human. [Q9H251-7]

Organism-specific databases

CTD64072.
GeneCardsGC10P073156.
H-InvDBHIX0008905.
HGNCHGNC:13733. CDH23.
HPAHPA017232.
MIM276900. phenotype.
601067. phenotype.
601386. phenotype.
605516. gene.
neXtProtNX_Q9H251.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBPA26296.
HUGESearch...
Search...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000139588.
HOVERGENHBG050768.
KOK06813.
OrthoDBEOG7FFMQP.
TreeFamTF320624.

Gene expression databases

ArrayExpressQ9H251.
BgeeQ9H251.
CleanExHS_CDH23.
GenevestigatorQ9H251.

Family and domain databases

Gene3D2.60.40.60. 27 hits.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamPF00028. Cadherin. 24 hits.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 26 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 27 hits.
PROSITEPS00232. CADHERIN_1. 17 hits.
PS50268. CADHERIN_2. 27 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCDH23. human.
EvolutionaryTraceQ9H251.
GeneWikiCDH23.
GenomeRNAi64072.
NextBio65849.
PROQ9H251.
SOURCESearch...

Entry information

Entry nameCAD23_HUMAN
AccessionPrimary (citable) accession number: Q9H251
Secondary accession number(s): C4IXS9 expand/collapse secondary AC list , F6U049, Q5QGS1, Q5QGS2, Q5QGS5, Q5QGS6, Q5XKN2, Q6UWW1, Q96JL3, Q9H4K9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 3, 2012
Last modified: April 16, 2014
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM