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Protein

Cadherin-23

Gene

CDH23

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCell adhesion, Hearing, Sensory transduction, Vision
LigandCalcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Cadherin-231 Publication
Alternative name(s):
Otocadherin1 Publication
Gene namesi
Name:CDH231 PublicationImported
Synonyms:KIAA17741 Publication, KIAA18121 Publication
ORF Names:UNQ1894/PRO43401 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107736.19
HGNCiHGNC:13733 CDH23
MIMi605516 gene
neXtProtiNX_Q9H251

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 3064ExtracellularSequence analysisAdd BLAST3041
Transmembranei3065 – 3085HelicalSequence analysisAdd BLAST21
Topological domaini3086 – 3354CytoplasmicSequence analysisAdd BLAST269

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1D (USH1D)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH 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.
See also OMIM:601067
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027318247E → K in USH1D. 1 Publication1
Natural variantiVAR_024030366A → T in USH1D. 2 PublicationsCorresponds to variant dbSNP:rs143282422EnsemblClinVar.1
Natural variantiVAR_027321484A → P in USH1D. 1 Publication1
Natural variantiVAR_046407755H → Y in USH1D. 1 PublicationCorresponds to variant dbSNP:rs181255269EnsemblClinVar.1
Natural variantiVAR_0464101090V → I in USH1D. 1 PublicationCorresponds to variant dbSNP:rs368487578Ensembl.1
Natural variantiVAR_0464111098N → S in USH1D. 1 PublicationCorresponds to variant dbSNP:rs41281310EnsemblClinVar.1
Natural variantiVAR_0273251206P → R in USH1D. 1 Publication1
Natural variantiVAR_0240311209T → A in USH1D. 2 PublicationsCorresponds to variant dbSNP:rs41281314EnsemblClinVar.1
Natural variantiVAR_0121711281Missing in USH1D. 1 Publication1
Natural variantiVAR_0121741496Q → H in USH1D. 2 PublicationsCorresponds to variant dbSNP:rs121908347EnsemblClinVar.1
Natural variantiVAR_0240321507R → Q in USH1D. 1 PublicationCorresponds to variant dbSNP:rs373480195Ensembl.1
Natural variantiVAR_0121781746R → Q in USH1D; mild retinal affection. 1 Publication1
Natural variantiVAR_0464191788P → L in USH1D. 1 PublicationCorresponds to variant dbSNP:rs564555435EnsemblClinVar.1
Natural variantiVAR_0464231912R → W in USH1D. 1 PublicationCorresponds to variant dbSNP:rs397517344EnsemblClinVar.1
Natural variantiVAR_0464241930D → N in USH1D. 1 Publication1
Natural variantiVAR_0273342017G → S in USH1D; most likely affects splicing. 2 Publications1
Natural variantiVAR_0464292376D → V in USH1D. 1 Publication1
Natural variantiVAR_0273402517S → G in USH1D. 1 PublicationCorresponds to variant dbSNP:rs759093040Ensembl.1
Natural variantiVAR_0464322530T → I in USH1D. 1 PublicationCorresponds to variant dbSNP:rs781406146Ensembl.1
Natural variantiVAR_0273422744G → S in USH1D; atypical. 1 PublicationCorresponds to variant dbSNP:rs376189742Ensembl.1
Natural variantiVAR_0464342771G → S in USH1D. 1 PublicationCorresponds to variant dbSNP:rs201076440EnsemblClinVar.1
Natural variantiVAR_0273432833R → G in USH1D; atypical. 1 PublicationCorresponds to variant dbSNP:rs760130862Ensembl.1
Natural variantiVAR_0464372968V → A in USH1D. 1 PublicationCorresponds to variant dbSNP:rs765847991Ensembl.1
Natural variantiVAR_0273473175R → H in USH1D. 1 PublicationCorresponds to variant dbSNP:rs140884994EnsemblClinVar.1
Natural variantiVAR_0240343245S → F in USH1D. 1 Publication1
Usher syndrome 1D/F (USH1DF)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionUSH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
See also OMIM:601067
Deafness, autosomal recessive, 12 (DFNB12)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601386
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027317124D → G in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs751192273Ensembl.1
Natural variantiVAR_046404240P → L in DFNB12. 3 PublicationsCorresponds to variant dbSNP:rs121908354EnsemblClinVar.1
Natural variantiVAR_046405301R → Q in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs121908355EnsemblClinVar.1
Natural variantiVAR_071408342N → S in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs1451062499Ensembl.1
Natural variantiVAR_027319452N → S in DFNB12. 1 Publication1
Natural variantiVAR_027320480L → Q in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs767928788Ensembl.1
Natural variantiVAR_027322582R → Q in DFNB12. 1 Publication1
Natural variantiVAR_071413956E → K in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs756147087EnsemblClinVar.1
Natural variantiVAR_012169990D → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs771766431Ensembl.1
Natural variantiVAR_0273231060R → W in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs201536811EnsemblClinVar.1
Natural variantiVAR_0273241186G → D in DFNB12. 1 Publication1
Natural variantiVAR_0273261341D → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs121908351EnsemblClinVar.1
Natural variantiVAR_0714181368T → M in DFNB12. 1 Publication1
Natural variantiVAR_0464141417R → W in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs756231829Ensembl.1
Natural variantiVAR_0273281586A → P in DFNB12. 1 Publication1
Natural variantiVAR_0273291595E → K in DFNB12. 2 Publications1
Natural variantiVAR_0714221626D → A in DFNB12. 1 Publication1
Natural variantiVAR_0464181716Q → P in DFNB12. 2 Publications1
Natural variantiVAR_0273311846D → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs746323558Ensembl.1
Natural variantiVAR_0273331888F → S in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs121908352EnsemblClinVar.1
Natural variantiVAR_0464252029R → W in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs750880909EnsemblClinVar.1
Natural variantiVAR_0121822045D → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs121908348EnsemblClinVar.1
Natural variantiVAR_0273362148D → N in DFNB12. 1 Publication1
Natural variantiVAR_0121832202D → N in DFNB12. 1 Publication1
Natural variantiVAR_0714252287N → K in DFNB12. 1 Publication1
Natural variantiVAR_0714262438E → K in DFNB12. 1 Publication1
Natural variantiVAR_0273392465R → W in DFNB12. 1 Publication1
Natural variantiVAR_0273412608R → H in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs202052174EnsemblClinVar.1
Natural variantiVAR_0121872950I → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs752937051Ensembl.1
Natural variantiVAR_0121882956R → C in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs751367894Ensembl.1
Natural variantiVAR_0121893059P → T in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs780514498Ensembl.1
Pituitary adenoma 5, multiple types (PITA5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance.
See also OMIM:617540
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0803811379R → L in PITA5. 1 Publication1
Natural variantiVAR_0803822115R → H in PITA5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1270566026Ensembl.1
Natural variantiVAR_0803833138R → W in PITA5; unknown pathological significance. 1 Publication1
Natural variantiVAR_0803843296D → N in PITA5; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi64072
GeneReviewsiCDH23
MalaCardsiCDH23
MIMi276900 phenotype
601067 phenotype
601386 phenotype
617540 phenotype
OpenTargetsiENSG00000107736
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
96253 Cushing disease
314777 Familial isolated pituitary adenoma
2965 Prolactinoma
91347 TSH-secreting pituitary adenoma
231169 Usher syndrome type 1
PharmGKBiPA26296

Polymorphism and mutation databases

BioMutaiCDH23
DMDMi408359994

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000000382424 – 3354Cadherin-23Add BLAST3331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi155N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi349N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi393N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi434N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi466N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi472N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi652N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi694N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi765N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi810N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi827N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi941N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1001N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1018N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1171N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1282N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1315N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1473N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1534N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1651N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1667N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1818N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1857N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1889N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1902N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2013N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2050N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2129N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2168N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2263N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2357N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2369N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2616N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2749N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2808N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2877N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2896N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2941N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2981N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H251
PaxDbiQ9H251
PeptideAtlasiQ9H251
PRIDEiQ9H251
ProteomicsDBi80489
80490 [Q9H251-2]
80491 [Q9H251-3]
80492 [Q9H251-4]
80493 [Q9H251-5]
80494 [Q9H251-6]

PTM databases

iPTMnetiQ9H251
PhosphoSitePlusiQ9H251

Expressioni

Tissue specificityi

Particularly strong expression in the retina (PubMed:11138009). Found also in the cochlea.1 Publication

Gene expression databases

BgeeiENSG00000107736 Expressed in 110 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_CDH23
ExpressionAtlasiQ9H251 baseline and differential
GenevisibleiQ9H251 HS

Organism-specific databases

HPAiHPA017232

Interactioni

Subunit structurei

antiparallel heterodimer with PCDH15 (By similarity). Interacts with USH1C and USH1G (PubMed:19297620, PubMed:21436032).By similarity2 Publications

Protein-protein interaction databases

BioGridi122042, 12 interactors
CORUMiQ9H251
DIPiDIP-48786N
ELMiQ9H251
IntActiQ9H251, 9 interactors
MINTiQ9H251
STRINGi9606.ENSP00000381768

Structurei

Secondary structure

13354
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H251
SMRiQ9H251
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H251

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 132Cadherin 1PROSITE-ProRule annotationAdd BLAST99
Domaini133 – 236Cadherin 2PROSITE-ProRule annotationAdd BLAST104
Domaini237 – 348Cadherin 3PROSITE-ProRule annotationAdd BLAST112
Domaini349 – 460Cadherin 4PROSITE-ProRule annotationAdd BLAST112
Domaini461 – 561Cadherin 5PROSITE-ProRule annotationAdd BLAST101
Domaini562 – 671Cadherin 6PROSITE-ProRule annotationAdd BLAST110
Domaini672 – 784Cadherin 7PROSITE-ProRule annotationAdd BLAST113
Domaini779 – 890Cadherin 8PROSITE-ProRule annotationAdd BLAST112
Domaini891 – 995Cadherin 9PROSITE-ProRule annotationAdd BLAST105
Domaini996 – 1102Cadherin 10PROSITE-ProRule annotationAdd BLAST107
Domaini1103 – 1208Cadherin 11PROSITE-ProRule annotationAdd BLAST106
Domaini1210 – 1313Cadherin 12PROSITE-ProRule annotationAdd BLAST104
Domaini1314 – 1418Cadherin 13PROSITE-ProRule annotationAdd BLAST105
Domaini1420 – 1527Cadherin 14PROSITE-ProRule annotationAdd BLAST108
Domaini1529 – 1634Cadherin 15PROSITE-ProRule annotationAdd BLAST106
Domaini1635 – 1744Cadherin 16PROSITE-ProRule annotationAdd BLAST110
Domaini1745 – 1851Cadherin 17PROSITE-ProRule annotationAdd BLAST107
Domaini1852 – 1959Cadherin 18PROSITE-ProRule annotationAdd BLAST108
Domaini1960 – 2069Cadherin 19PROSITE-ProRule annotationAdd BLAST110
Domaini2070 – 2174Cadherin 20PROSITE-ProRule annotationAdd BLAST105
Domaini2175 – 2293Cadherin 21PROSITE-ProRule annotationAdd BLAST119
Domaini2297 – 2402Cadherin 22PROSITE-ProRule annotationAdd BLAST106
Domaini2403 – 2509Cadherin 23PROSITE-ProRule annotationAdd BLAST107
Domaini2510 – 2611Cadherin 24PROSITE-ProRule annotationAdd BLAST102
Domaini2614 – 2722Cadherin 25PROSITE-ProRule annotationAdd BLAST109
Domaini2729 – 2846Cadherin 26PROSITE-ProRule annotationAdd BLAST118
Domaini2847 – 2975Cadherin 27PROSITE-ProRule annotationAdd BLAST129

Domaini

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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1219 Eukaryota
ENOG410XPEI LUCA
GeneTreeiENSGT00760000118805
HOGENOMiHOG000139588
HOVERGENiHBG050768
InParanoidiQ9H251
KOiK06813
TreeFamiTF320624

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR033030 CDH23
PANTHERiPTHR43956:SF3 PTHR43956:SF3, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 24 hits
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 26 hits
SUPFAMiSSF49313 SSF49313, 27 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 17 hits
PS50268 CADHERIN_2, 27 hits

Sequences (11+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 11 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 11 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H251-1) [UniParc]FASTAAdd to basket

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.

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        10         20         30         40         50
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS
60 70 80 90 100
SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE
110 120 130 140 150
FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP
160 170 180 190 200
IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA
210 220 230 240 250
YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP
260 270 280 290 300
PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD
310 320 330 340 350
RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS
360 370 380 390 400
SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII
410 420 430 440 450
SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL
460 470 480 490 500
INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS
510 520 530 540 550
DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN
560 570 580 590 600
VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI
610 620 630 640 650
VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP
660 670 680 690 700
LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR
710 720 730 740 750
SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD
760 770 780 790 800
GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV
810 820 830 840 850
VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA
860 870 880 890 900
ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL
910 920 930 940 950
EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT
960 970 980 990 1000
TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY
1010 1020 1030 1040 1050
NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA
1060 1070 1080 1090 1100
VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP
1110 1120 1130 1140 1150
IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF
1160 1170 1180 1190 1200
RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED
1210 1220 1230 1240 1250
INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS
1260 1270 1280 1290 1300
GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY
1310 1320 1330 1340 1350
ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF
1360 1370 1380 1390 1400
NAYTSTQAKA LFKIDAITGV ITVQGLVDRE KGDFYTLTVV ADDGGPKVDS
1410 1420 1430 1440 1450
TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT VKAWDPDAGS
1460 1470 1480 1490 1500
NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS
1510 1520 1530 1540 1550
DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV
1560 1570 1580 1590 1600
RATDRDIGIN SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY
1610 1620 1630 1640 1650
HLVATVEDEG TPTLSATTHV YVTIVDENDN APMFQQPHYE VLLDEGPDTL
1660 1670 1680 1690 1700
NTSLITIQAL DLDEGPNGTV TYAIVAGNIV NTFRIDRHMG VITAAKELDY
1710 1720 1730 1740 1750
EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN VPTFPRDYEG
1760 1770 1780 1790 1800
PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV
1810 1820 1830 1840 1850
LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV
1860 1870 1880 1890 1900
LLNLPMNITI SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF
1910 1920 1930 1940 1950
INATTGIVTV NRPLDRERIP EYKLTISVKD NPENPRIARR DYDLLLIFLS
1960 1970 1980 1990 2000
DENDNHPLFT KSTYQAEVME NSPAGTPLTV LNGPILALDA DQDIYAVVTY
2010 2020 2030 2040 2050
QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL LLAEDIGLLN
2060 2070 2080 2090 2100
STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL
2110 2120 2130 2140 2150
NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG
2160 2170 2180 2190 2200
TVPLSGTAIV TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID
2210 2220 2230 2240 2250
HDLNPKLEYH IVGIVAKDDT DRLVPNQEDA FAVNINTGSV MVKSPMNREL
2260 2270 2280 2290 2300
VATYEVTLSV IDNASDLPER SVSVPNAKLT VNVLDVNDNT PQFKPFGITY
2310 2320 2330 2340 2350
YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP PGYVQLEDSS
2360 2370 2380 2390 2400
AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP
2410 2420 2430 2440 2450
IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI
2460 2470 2480 2490 2500
NPTTGDIYVL SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL
2510 2520 2530 2540 2550
DVNDCRPQFS KPQFSTSVYE NEPAGTSVIT MMATDQDEGP NGELTYSLEG
2560 2570 2580 2590 2600
PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT VVATDGGEPP LWGTTMLLVE
2610 2620 2630 2640 2650
VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK DEGLNGAVRY
2660 2670 2680 2690 2700
SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV
2710 2720 2730 2740 2750
PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV
2760 2770 2780 2790 2800
TGAVDADEGP NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS
2810 2820 2830 2840 2850
FIVKASSNRS WTPPRGPSPT LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE
2860 2870 2880 2890 2900
YTAGVATDAK VGSELIQVLA LDADIGNNSL VFYSILAIHY FRALANDSED
2910 2920 2930 2940 2950
VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH NDTAIIGIYI
2960 2970 2980 2990 3000
LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG
3010 3020 3030 3040 3050
RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV
3060 3070 3080 3090 3100
QPAISVRLPD DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA
3110 3120 3130 3140 3150
IVAGSAGNRG FIDIMDMPNT NKYSFDGANP VWLDPFCRNL ELAAQAEHED
3160 3170 3180 3190 3200
DLPENLSEIA DLWNSPTRTH GTFGREPAAV KPDDDRYLRA AIQEYDNIAK
3210 3220 3230 3240 3250
LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC HSSISELIQT
3260 3270 3280 3290 3300
ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL
3310 3320 3330 3340 3350
PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE

ITEL
Length:3,354
Mass (Da):369,494
Last modified:October 3, 2012 - v2
Checksum:i1B68045A7FFA97BA
GO
Isoform 2 (identifier: Q9H251-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     379-380: Missing.

Show »
Length:3,352
Mass (Da):369,267
Checksum:i2E71F065CB48A95A
GO
Isoform 3 (identifier: Q9H251-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1403-1403: Missing.

Show »
Length:3,353
Mass (Da):369,366
Checksum:i9E75DD8B3E662D33
GO
Isoform 4 (identifier: Q9H251-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3212-3246: Missing.

Show »
Length:3,319
Mass (Da):365,546
Checksum:i2EE8C5D6390FBCD3
GO
Isoform 5 (identifier: Q9H251-5) [UniParc]FASTAAdd to basket

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

Show »
Length:530
Mass (Da):58,579
Checksum:iA02B8FDD86A37181
GO
Isoform 6 (identifier: Q9H251-6) [UniParc]FASTAAdd to basket

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.
Show »
Length:1,212
Mass (Da):133,118
Checksum:i6EECD6D0BBC429A7
GO
Isoform 7 (identifier: Q9H251-7) [UniParc]FASTAAdd to basket
Also known as: B1

The sequence of this isoform differs from the canonical sequence as follows:
     1-2240: Missing.

Show »
Length:1,114
Mass (Da):123,516
Checksum:i146974C979A46F4C
GO
Isoform 8 (identifier: Q9H251-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-143: E → EVGATG
     379-380: Missing.

Note: No experimental confirmation available.
Show »
Length:3,357
Mass (Da):369,652
Checksum:i46EECDE09AEF4945
GO
Isoform 9 (identifier: Q9H251-9) [UniParc]FASTAAdd to basket
Also known as: B2

The sequence of this isoform differs from the canonical sequence as follows:
     1-2240: Missing.
     3212-3246: Missing.

Show »
Length:1,079
Mass (Da):119,569
Checksum:i60B22E61E279DA82
GO
Isoform 10 (identifier: Q9H251-10) [UniParc]FASTAAdd to basket
Also known as: C1

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

Show »
Length:251
Mass (Da):27,847
Checksum:iFD4C927F1054FC01
GO
Isoform 11 (identifier: Q9H251-11) [UniParc]FASTAAdd to basket
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.

Show »
Length:216
Mass (Da):23,900
Checksum:iFDE951E65334C527
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQS6A0A0A0MQS6_HUMAN
Cadherin-23
CDH23
3,359Annotation score:
A0A087X097A0A087X097_HUMAN
Cadherin-23
CDH23
3,354Annotation score:
Q8N5B3Q8N5B3_HUMAN
CDH23 protein
CDH23
1,061Annotation score:
A0A087WYR8A0A087WYR8_HUMAN
Cadherin-23
CDH23
1,381Annotation score:
B1AVV0B1AVV0_HUMAN
Cadherin-23
CDH23
1,211Annotation score:
A0A0A0MS94A0A0A0MS94_HUMAN
Cadherin-23
CDH23
1,380Annotation score:
G8JLI8G8JLI8_HUMAN
Cadherin-23
CDH23
445Annotation score:
R4GN92R4GN92_HUMAN
Cadherin-23
CDH23
1,035Annotation score:
A0A087WWD9A0A087WWD9_HUMAN
Cadherin-23
CDH23
165Annotation score:
A0A2R8Y663A0A2R8Y663_HUMAN
Cadherin-23
CDH23
396Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti985V → L in AAG27034 (PubMed:11090341).Curated1
Sequence conflicti1403K → V in AAG27034 (PubMed:11090341).Curated1
Sequence conflicti2173 – 2236EFLNP…AVNIN → ASWEGQSHVTQAYEEAVGPP QPQVPDSTGDRHPLWGLGGF GQEHPWEGQILGGSSQAEPG LVWS in BAB61902 (PubMed:11597768).CuratedAdd BLAST64

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0121663R → C3 PublicationsCorresponds to variant dbSNP:rs7902757EnsemblClinVar.1
Natural variantiVAR_027317124D → G in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs751192273Ensembl.1
Natural variantiVAR_071407160D → N1 PublicationCorresponds to variant dbSNP:rs1057519500Ensembl.1
Natural variantiVAR_079747187V → I1 PublicationCorresponds to variant dbSNP:rs369624952Ensembl.1
Natural variantiVAR_072661192E → Q1 PublicationCorresponds to variant dbSNP:rs199514829EnsemblClinVar.1
Natural variantiVAR_046404240P → L in DFNB12. 3 PublicationsCorresponds to variant dbSNP:rs121908354EnsemblClinVar.1
Natural variantiVAR_027318247E → K in USH1D. 1 Publication1
Natural variantiVAR_046405301R → Q in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs121908355EnsemblClinVar.1
Natural variantiVAR_071408342N → S in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs1451062499Ensembl.1
Natural variantiVAR_071409361A → S1 Publication1
Natural variantiVAR_024030366A → T in USH1D. 2 PublicationsCorresponds to variant dbSNP:rs143282422EnsemblClinVar.1
Natural variantiVAR_071410424V → M1 PublicationCorresponds to variant dbSNP:rs2305207Ensembl.1
Natural variantiVAR_071411428D → N1 Publication1
Natural variantiVAR_027319452N → S in DFNB12. 1 Publication1
Natural variantiVAR_027320480L → Q in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs767928788Ensembl.1
Natural variantiVAR_027321484A → P in USH1D. 1 Publication1
Natural variantiVAR_012167490G → A4 PublicationsCorresponds to variant dbSNP:rs1227049EnsemblClinVar.1
Natural variantiVAR_012168496S → N5 PublicationsCorresponds to variant dbSNP:rs10999947EnsemblClinVar.1
Natural variantiVAR_027322582R → Q in DFNB12. 1 Publication1
Natural variantiVAR_046406746V → I1 PublicationCorresponds to variant dbSNP:rs550384315EnsemblClinVar.1
Natural variantiVAR_046407755H → Y in USH1D. 1 PublicationCorresponds to variant dbSNP:rs181255269EnsemblClinVar.1
Natural variantiVAR_071412803V → I1 Publication1
Natural variantiVAR_046408944S → G1 Publication1
Natural variantiVAR_071413956E → K in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs756147087EnsemblClinVar.1
Natural variantiVAR_046409960E → K1 PublicationCorresponds to variant dbSNP:rs111033458EnsemblClinVar.1
Natural variantiVAR_071414964R → Q1 Publication1
Natural variantiVAR_012169990D → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs771766431Ensembl.1
Natural variantiVAR_0714151010R → H1 PublicationCorresponds to variant dbSNP:rs370107953Ensembl.1
Natural variantiVAR_0273231060R → W in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs201536811EnsemblClinVar.1
Natural variantiVAR_0464101090V → I in USH1D. 1 PublicationCorresponds to variant dbSNP:rs368487578Ensembl.1
Natural variantiVAR_0464111098N → S in USH1D. 1 PublicationCorresponds to variant dbSNP:rs41281310EnsemblClinVar.1
Natural variantiVAR_0714161118G → S1 PublicationCorresponds to variant dbSNP:rs562052236Ensembl.1
Natural variantiVAR_0273241186G → D in DFNB12. 1 Publication1
Natural variantiVAR_0273251206P → R in USH1D. 1 Publication1
Natural variantiVAR_0240311209T → A in USH1D. 2 PublicationsCorresponds to variant dbSNP:rs41281314EnsemblClinVar.1
Natural variantiVAR_0121701222A → T3 PublicationsCorresponds to variant dbSNP:rs41281316EnsemblClinVar.1
Natural variantiVAR_0464121236R → Q1 Publication1
Natural variantiVAR_0121711281Missing in USH1D. 1 Publication1
Natural variantiVAR_0464131282N → S1 Publication1
Natural variantiVAR_0714171335V → A1 PublicationCorresponds to variant dbSNP:rs1364542092Ensembl.1
Natural variantiVAR_0273261341D → N in DFNB12. 1 PublicationCorresponds to variant dbSNP:rs121908351EnsemblClinVar.1
Natural variantiVAR_0121721349R → C2 PublicationsCorresponds to variant dbSNP:rs41281318EnsemblClinVar.1
Natural variantiVAR_0121731351N → D4 PublicationsCorresponds to variant dbSNP:rs1227065EnsemblClinVar.1
Natural variantiVAR_0714181368T → M in DFNB12. 1 Publication1
Natural variantiVAR_0803811379R → L in PITA5. 1 Publication1
Natural variantiVAR_0714191415S → I1 Publication1
Natural variantiVAR_0464141417R → W in DFNB12. 2 PublicationsCorresponds to variant dbSNP:rs756231829Ensembl.1
Natural variantiVAR_0273271437R → Q3 PublicationsCorresponds to variant dbSNP:rs56181447EnsemblClinVar.1
Natural variantiVAR_0714201443A → G1 Publication1
Natural variantiVAR_0121741496Q → H in USH1D. 2 PublicationsCorresponds to variant dbSNP:rs121908347EnsemblClinVar.1
Natural variantiVAR_0240321507R → Q in USH1D. 1 PublicationCorresponds to variant dbSNP:rs373480195Ensembl.1
Natural variantiVAR_0464151520I → M1 Publication1
Natural variantiVAR_0464161574M → T1 Publication1
Natural variantiVAR_0121751575A → T3 PublicationsCorresponds to variant dbSNP:rs1227051EnsemblClinVar.1
Natural variantiVAR_0273281586A → P in DFNB12. 1 Publication1
Natural variantiVAR_0714211588R → W2 PublicationsCorresponds to variant dbSNP:rs137937502Ensembl.1
Natural variantiVAR_0273291595E → K in DFNB12. 2 Publications1
Natural variantiVAR_0273301620V → M1 PublicationCorresponds to variant dbSNP:rs41281330EnsemblClinVar.1
Natural variantiVAR_0714221626D → A in DFNB12. 1 Publication1
Natural variantiVAR_0121761671T → S1 PublicationCorresponds to variant dbSNP:rs749678546Ensembl.1
Natural variantiVAR_0121771675V → I4 PublicationsCorresponds to variant dbSNP:rs17712523EnsemblClinVar.1
Natural variantiVAR_0464171711V → I2 PublicationsCorresponds to variant dbSNP:rs181611778EnsemblClinVar.1
Natural variantiVAR_0464181716Q → P in DFNB12. 2 Publications1
Natural variantiVAR_0121781746R → Q in USH1D; mild retinal affection. 1 Publication1
Natural variantiVAR_0464191788P → L in USH1D. 1 PublicationCorresponds to variant dbSNP:rs564555435EnsemblClinVar.1
Natural variantiVAR_0121791804R → Q3 PublicationsCorresponds to variant dbSNP:rs3802711EnsemblClinVar.1
Natural variantiVAR_0714231806D → E2 Publications