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Q9H251

- CAD23_HUMAN

UniProt

Q9H251 - CAD23_HUMAN

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Protein
Cadherin-23
Gene
CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. protein binding Source: HGNC
Complete GO annotation...

GO - Biological processi

  1. calcium ion transport Source: DFLAT
  2. calcium-dependent cell-cell adhesion Source: UniProtKB
  3. cytosolic calcium ion homeostasis Source: DFLAT
  4. equilibrioception Source: HGNC
  5. homophilic cell adhesion Source: InterPro
  6. photoreceptor cell maintenance Source: HGNC
  7. response to stimulus Source: UniProtKB-KW
  8. sensory perception of light stimulus Source: HGNC
  9. sensory perception of sound Source: DFLAT
  10. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Hearing, Sensory transduction, Vision

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Cadherin-23
Alternative name(s):
Otocadherin
Gene namesi
Name:CDH23
Synonyms:KIAA1774, KIAA1812
ORF Names:UNQ1894/PRO4340
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:13733. CDH23.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 30643041Extracellular Reviewed prediction
Add
BLAST
Transmembranei3065 – 308521Helical; Reviewed prediction
Add
BLAST
Topological domaini3086 – 3354269Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. membrane Source: UniProtKB
  3. plasma membrane Source: UniProtKB-SubCell
  4. stereocilium Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti247 – 2471E → K in USH1D. 1 Publication
VAR_027318
Natural varianti366 – 3661A → T in USH1D. 2 Publications
Corresponds to variant rs143282422 [ dbSNP | Ensembl ].
VAR_024030
Natural varianti484 – 4841A → P in USH1D. 1 Publication
VAR_027321
Natural varianti755 – 7551H → Y in USH1D. 1 Publication
VAR_046407
Natural varianti1090 – 10901V → I in USH1D. 1 Publication
VAR_046410
Natural varianti1098 – 10981N → S in USH1D. 1 Publication
Corresponds to variant rs41281310 [ dbSNP | Ensembl ].
VAR_046411
Natural varianti1206 – 12061P → R in USH1D. 1 Publication
VAR_027325
Natural varianti1209 – 12091T → A in USH1D. 2 Publications
Corresponds to variant rs41281314 [ dbSNP | Ensembl ].
VAR_024031
Natural varianti1281 – 12811Missing in USH1D. 1 Publication
VAR_012171
Natural varianti1496 – 14961Q → H in USH1D. 2 Publications
VAR_012174
Natural varianti1507 – 15071R → Q in USH1D. 1 Publication
VAR_024032
Natural varianti1746 – 17461R → Q in USH1D; mild retinal affection. 1 Publication
VAR_012178
Natural varianti1788 – 17881P → L in USH1D. 1 Publication
VAR_046419
Natural varianti1912 – 19121R → W in USH1D. 1 Publication
VAR_046423
Natural varianti1930 – 19301D → N in USH1D. 1 Publication
VAR_046424
Natural varianti2017 – 20171G → S in USH1D; most likely affects splicing. 2 Publications
VAR_027334
Natural varianti2376 – 23761D → V in USH1D. 1 Publication
VAR_046429
Natural varianti2517 – 25171S → G in USH1D. 1 Publication
VAR_027340
Natural varianti2530 – 25301T → I in USH1D. 1 Publication
VAR_046432
Natural varianti2744 – 27441G → S in USH1D; atypical. 1 Publication
VAR_027342
Natural varianti2771 – 27711G → S in USH1D. 1 Publication
VAR_046434
Natural varianti2833 – 28331R → G in USH1D; atypical. 1 Publication
VAR_027343
Natural varianti2968 – 29681V → A in USH1D. 1 Publication
VAR_046437
Natural varianti3175 – 31751R → H in USH1D. 1 Publication
VAR_027347
Natural varianti3189 – 31891R → W in USH1D and USH1DF. 2 Publications
VAR_024033
Natural varianti3245 – 32451S → F in USH1D. 1 Publication
VAR_024034
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3189 – 31891R → W in USH1D and USH1DF. 2 Publications
VAR_024033
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.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241D → G in DFNB12. 1 Publication
VAR_027317
Natural varianti240 – 2401P → L in DFNB12. 1 Publication
Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
VAR_046404
Natural varianti301 – 3011R → Q in DFNB12. 1 Publication
VAR_046405
Natural varianti452 – 4521N → S in DFNB12. 1 Publication
VAR_027319
Natural varianti480 – 4801L → Q in DFNB12. 1 Publication
VAR_027320
Natural varianti582 – 5821R → Q in DFNB12. 1 Publication
VAR_027322
Natural varianti990 – 9901D → N in DFNB12. 1 Publication
VAR_012169
Natural varianti1060 – 10601R → W in DFNB12. 2 Publications
VAR_027323
Natural varianti1186 – 11861G → D in DFNB12. 1 Publication
VAR_027324
Natural varianti1341 – 13411D → N in DFNB12. 1 Publication
VAR_027326
Natural varianti1586 – 15861A → P in DFNB12. 1 Publication
VAR_027328
Natural varianti1595 – 15951E → K in DFNB12. 1 Publication
VAR_027329
Natural varianti1716 – 17161Q → P in DFNB12. 1 Publication
VAR_046418
Natural varianti1846 – 18461D → N in DFNB12. 1 Publication
VAR_027331
Natural varianti1888 – 18881F → S in DFNB12. 1 Publication
VAR_027333
Natural varianti2029 – 20291R → W in DFNB12. 1 Publication
VAR_046425
Natural varianti2045 – 20451D → N in DFNB12. 1 Publication
VAR_012182
Natural varianti2148 – 21481D → N in DFNB12. 1 Publication
VAR_027336
Natural varianti2202 – 22021D → N in DFNB12. 1 Publication
VAR_012183
Natural varianti2465 – 24651R → W in DFNB12. 1 Publication
VAR_027339
Natural varianti2608 – 26081R → H in DFNB12. 1 Publication
VAR_027341
Natural varianti2950 – 29501I → N in DFNB12. 1 Publication
VAR_012187
Natural varianti2956 – 29561R → C in DFNB12. 1 Publication
VAR_012188
Natural varianti3059 – 30591P → T in DFNB12. 1 Publication
VAR_012189

Keywords - Diseasei

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

Organism-specific databases

MIMi276900. phenotype.
601067. phenotype.
601386. phenotype.
Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA26296.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed prediction
Add
BLAST
Chaini24 – 33543331Cadherin-23
PRO_0000003824Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi155 – 1551N-linked (GlcNAc...) Reviewed prediction
Glycosylationi206 – 2061N-linked (GlcNAc...) Reviewed prediction
Glycosylationi349 – 3491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi393 – 3931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi434 – 4341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi466 – 4661N-linked (GlcNAc...) Reviewed prediction
Glycosylationi472 – 4721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi652 – 6521N-linked (GlcNAc...) Reviewed prediction
Glycosylationi694 – 6941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi765 – 7651N-linked (GlcNAc...) Reviewed prediction
Glycosylationi810 – 8101N-linked (GlcNAc...) Reviewed prediction
Glycosylationi827 – 8271N-linked (GlcNAc...) Reviewed prediction
Glycosylationi941 – 9411N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1001 – 10011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1018 – 10181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1171 – 11711N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1282 – 12821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1315 – 13151N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1473 – 14731N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1534 – 15341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1651 – 16511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1667 – 16671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1818 – 18181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1857 – 18571N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1889 – 18891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1902 – 19021N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2013 – 20131N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2050 – 20501N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2129 – 21291N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2168 – 21681N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2195 – 21951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2263 – 22631N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2357 – 23571N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2369 – 23691N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2616 – 26161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2749 – 27491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2808 – 28081N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2877 – 28771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2896 – 28961N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2941 – 29411N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2981 – 29811N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H251.
PRIDEiQ9H251.

PTM databases

PhosphoSiteiQ9H251.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ9H251.
BgeeiQ9H251.
CleanExiHS_CDH23.
GenevestigatoriQ9H251.

Organism-specific databases

HPAiHPA017232.

Interactioni

Subunit structurei

antiparallel heterodimer with PCDH15 By similarity. Interacts with USH1C and USH1G.2 Publications

Protein-protein interaction databases

BioGridi122042. 3 interactions.
DIPiDIP-48786N.
IntActiQ9H251. 1 interaction.
MINTiMINT-4830802.
STRINGi9606.ENSP00000381822.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi3187 – 319812
Helixi3214 – 322613
Beta strandi3351 – 33533

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KBRNMR-B3183-3200[»]
2KBSNMR-B3347-3354[»]
2LSRNMR-B3212-3227[»]
ProteinModelPortaliQ9H251.
SMRiQ9H251. Positions 24-2940.

Miscellaneous databases

EvolutionaryTraceiQ9H251.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 13299Cadherin 1
Add
BLAST
Domaini133 – 236104Cadherin 2
Add
BLAST
Domaini237 – 348112Cadherin 3
Add
BLAST
Domaini349 – 460112Cadherin 4
Add
BLAST
Domaini461 – 561101Cadherin 5
Add
BLAST
Domaini562 – 671110Cadherin 6
Add
BLAST
Domaini672 – 784113Cadherin 7
Add
BLAST
Domaini779 – 890112Cadherin 8
Add
BLAST
Domaini891 – 995105Cadherin 9
Add
BLAST
Domaini996 – 1102107Cadherin 10
Add
BLAST
Domaini1103 – 1208106Cadherin 11
Add
BLAST
Domaini1210 – 1313104Cadherin 12
Add
BLAST
Domaini1314 – 1418105Cadherin 13
Add
BLAST
Domaini1420 – 1527108Cadherin 14
Add
BLAST
Domaini1529 – 1634106Cadherin 15
Add
BLAST
Domaini1635 – 1744110Cadherin 16
Add
BLAST
Domaini1745 – 1851107Cadherin 17
Add
BLAST
Domaini1852 – 1959108Cadherin 18
Add
BLAST
Domaini1960 – 2069110Cadherin 19
Add
BLAST
Domaini2070 – 2174105Cadherin 20
Add
BLAST
Domaini2175 – 2293119Cadherin 21
Add
BLAST
Domaini2297 – 2402106Cadherin 22
Add
BLAST
Domaini2403 – 2509107Cadherin 23
Add
BLAST
Domaini2510 – 2611102Cadherin 24
Add
BLAST
Domaini2614 – 2722109Cadherin 25
Add
BLAST
Domaini2729 – 2846118Cadherin 26
Add
BLAST
Domaini2847 – 2975129Cadherin 27
Add
BLAST

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.

Sequence similaritiesi

Contains 27 cadherin domains.

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000139588.
HOVERGENiHBG050768.
KOiK06813.
OrthoDBiEOG7FFMQP.
TreeFamiTF320624.

Family and domain databases

Gene3Di2.60.40.60. 27 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamiPF00028. Cadherin. 24 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 26 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 27 hits.
PROSITEiPS00232. CADHERIN_1. 17 hits.
PS50268. CADHERIN_2. 27 hits.
[Graphical view]

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. Align

Note: Additional isoforms seem to exist.

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.

« Hide

MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS     50
SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE 100
FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP 150
IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA 200
YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP 250
PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD 300
RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS 350
SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII 400
SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL 450
INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS 500
DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN 550
VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI 600
VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP 650
LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR 700
SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD 750
GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV 800
VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA 850
ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL 900
EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT 950
TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY 1000
NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA 1050
VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP 1100
IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF 1150
RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED 1200
INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS 1250
GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY 1300
ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF 1350
NAYTSTQAKA LFKIDAITGV ITVQGLVDRE KGDFYTLTVV ADDGGPKVDS 1400
TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT VKAWDPDAGS 1450
NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS 1500
DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV 1550
RATDRDIGIN SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY 1600
HLVATVEDEG TPTLSATTHV YVTIVDENDN APMFQQPHYE VLLDEGPDTL 1650
NTSLITIQAL DLDEGPNGTV TYAIVAGNIV NTFRIDRHMG VITAAKELDY 1700
EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN VPTFPRDYEG 1750
PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV 1800
LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV 1850
LLNLPMNITI SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF 1900
INATTGIVTV NRPLDRERIP EYKLTISVKD NPENPRIARR DYDLLLIFLS 1950
DENDNHPLFT KSTYQAEVME NSPAGTPLTV LNGPILALDA DQDIYAVVTY 2000
QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL LLAEDIGLLN 2050
STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL 2100
NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG 2150
TVPLSGTAIV TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID 2200
HDLNPKLEYH IVGIVAKDDT DRLVPNQEDA FAVNINTGSV MVKSPMNREL 2250
VATYEVTLSV IDNASDLPER SVSVPNAKLT VNVLDVNDNT PQFKPFGITY 2300
YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP PGYVQLEDSS 2350
AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP 2400
IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI 2450
NPTTGDIYVL SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL 2500
DVNDCRPQFS KPQFSTSVYE NEPAGTSVIT MMATDQDEGP NGELTYSLEG 2550
PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT VVATDGGEPP LWGTTMLLVE 2600
VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK DEGLNGAVRY 2650
SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV 2700
PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV 2750
TGAVDADEGP NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS 2800
FIVKASSNRS WTPPRGPSPT LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE 2850
YTAGVATDAK VGSELIQVLA LDADIGNNSL VFYSILAIHY FRALANDSED 2900
VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH NDTAIIGIYI 2950
LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG 3000
RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV 3050
QPAISVRLPD DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA 3100
IVAGSAGNRG FIDIMDMPNT NKYSFDGANP VWLDPFCRNL ELAAQAEHED 3150
DLPENLSEIA DLWNSPTRTH GTFGREPAAV KPDDDRYLRA AIQEYDNIAK 3200
LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC HSSISELIQT 3250
ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL 3300
PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE 3350
ITEL 3354
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31R → C.3 Publications
Corresponds to variant rs7902757 [ dbSNP | Ensembl ].
VAR_012166
Natural varianti124 – 1241D → G in DFNB12. 1 Publication
VAR_027317
Natural varianti240 – 2401P → L in DFNB12. 1 Publication
Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
VAR_046404
Natural varianti247 – 2471E → K in USH1D. 1 Publication
VAR_027318
Natural varianti301 – 3011R → Q in DFNB12. 1 Publication
VAR_046405
Natural varianti366 – 3661A → T in USH1D. 2 Publications
Corresponds to variant rs143282422 [ dbSNP | Ensembl ].
VAR_024030
Natural varianti452 – 4521N → S in DFNB12. 1 Publication
VAR_027319
Natural varianti480 – 4801L → Q in DFNB12. 1 Publication
VAR_027320
Natural varianti484 – 4841A → P in USH1D. 1 Publication
VAR_027321
Natural varianti490 – 4901G → A.3 Publications
Corresponds to variant rs1227049 [ dbSNP | Ensembl ].
VAR_012167
Natural varianti496 – 4961S → N.4 Publications
Corresponds to variant rs10999947 [ dbSNP | Ensembl ].
VAR_012168
Natural varianti582 – 5821R → Q in DFNB12. 1 Publication
VAR_027322
Natural varianti746 – 7461V → I.1 Publication
VAR_046406
Natural varianti755 – 7551H → Y in USH1D. 1 Publication
VAR_046407
Natural varianti944 – 9441S → G.1 Publication
VAR_046408
Natural varianti960 – 9601E → K.1 Publication
VAR_046409
Natural varianti990 – 9901D → N in DFNB12. 1 Publication
VAR_012169
Natural varianti1060 – 10601R → W in DFNB12. 2 Publications
VAR_027323
Natural varianti1090 – 10901V → I in USH1D. 1 Publication
VAR_046410
Natural varianti1098 – 10981N → S in USH1D. 1 Publication
Corresponds to variant rs41281310 [ dbSNP | Ensembl ].
VAR_046411
Natural varianti1186 – 11861G → D in DFNB12. 1 Publication
VAR_027324
Natural varianti1206 – 12061P → R in USH1D. 1 Publication
VAR_027325
Natural varianti1209 – 12091T → A in USH1D. 2 Publications
Corresponds to variant rs41281314 [ dbSNP | Ensembl ].
VAR_024031
Natural varianti1222 – 12221A → T.3 Publications
Corresponds to variant rs41281316 [ dbSNP | Ensembl ].
VAR_012170
Natural varianti1236 – 12361R → Q.1 Publication
VAR_046412
Natural varianti1281 – 12811Missing in USH1D. 1 Publication
VAR_012171
Natural varianti1282 – 12821N → S.1 Publication
VAR_046413
Natural varianti1341 – 13411D → N in DFNB12. 1 Publication
VAR_027326
Natural varianti1349 – 13491R → C.2 Publications
Corresponds to variant rs41281318 [ dbSNP | Ensembl ].
VAR_012172
Natural varianti1351 – 13511N → D.3 Publications
Corresponds to variant rs1227065 [ dbSNP | Ensembl ].
VAR_012173
Natural varianti1417 – 14171R → W.1 Publication
VAR_046414
Natural varianti1437 – 14371R → Q.2 Publications
Corresponds to variant rs56181447 [ dbSNP | Ensembl ].
VAR_027327
Natural varianti1496 – 14961Q → H in USH1D. 2 Publications
VAR_012174
Natural varianti1507 – 15071R → Q in USH1D. 1 Publication
VAR_024032
Natural varianti1520 – 15201I → M.1 Publication
VAR_046415
Natural varianti1574 – 15741M → T.1 Publication
VAR_046416
Natural varianti1575 – 15751A → T.2 Publications
Corresponds to variant rs1227051 [ dbSNP | Ensembl ].
VAR_012175
Natural varianti1586 – 15861A → P in DFNB12. 1 Publication
VAR_027328
Natural varianti1595 – 15951E → K in DFNB12. 1 Publication
VAR_027329
Natural varianti1620 – 16201V → M.1 Publication
Corresponds to variant rs41281330 [ dbSNP | Ensembl ].
VAR_027330
Natural varianti1671 – 16711T → S.1 Publication
VAR_012176
Natural varianti1675 – 16751V → I.3 Publications
Corresponds to variant rs17712523 [ dbSNP | Ensembl ].
VAR_012177
Natural varianti1711 – 17111V → I.1 Publication
VAR_046417
Natural varianti1716 – 17161Q → P in DFNB12. 1 Publication
VAR_046418
Natural varianti1746 – 17461R → Q in USH1D; mild retinal affection. 1 Publication
VAR_012178
Natural varianti1788 – 17881P → L in USH1D. 1 Publication
VAR_046419
Natural varianti1804 – 18041R → Q.2 Publications
Corresponds to variant rs3802711 [ dbSNP | Ensembl ].
VAR_012179
Natural varianti1807 – 18071V → M.1 Publication
VAR_046420
Natural varianti1846 – 18461D → N in DFNB12. 1 Publication
VAR_027331
Natural varianti1876 – 18761S → N.1 Publication
VAR_046421
Natural varianti1887 – 18871T → I.1 Publication
VAR_027332
Natural varianti1888 – 18881F → S in DFNB12. 1 Publication
VAR_027333
Natural varianti1908 – 19081V → I.1 Publication
VAR_046422
Natural varianti1912 – 19121R → W in USH1D. 1 Publication
VAR_046423
Natural varianti1930 – 19301D → N in USH1D. 1 Publication
VAR_046424
Natural varianti1999 – 19991T → S.3 Publications
Corresponds to variant rs11592462 [ dbSNP | Ensembl ].
VAR_012180
Natural varianti2017 – 20171G → S in USH1D; most likely affects splicing. 2 Publications
VAR_027334
Natural varianti2029 – 20291R → W in DFNB12. 1 Publication
VAR_046425
Natural varianti2044 – 20441E → K.2 Publications
Corresponds to variant rs10466026 [ dbSNP | Ensembl ].
VAR_012181
Natural varianti2045 – 20451D → N in DFNB12. 1 Publication
VAR_012182
Natural varianti2066 – 20661R → Q.1 Publication
VAR_027335
Natural varianti2125 – 21251I → M.
Corresponds to variant rs16929354 [ dbSNP | Ensembl ].
VAR_046426
Natural varianti2148 – 21481D → N in DFNB12. 1 Publication
VAR_027336
Natural varianti2171 – 21711R → C.1 Publication
VAR_046427
Natural varianti2202 – 22021D → N in DFNB12. 1 Publication
VAR_012183
Natural varianti2227 – 22271Q → P.1 Publication
VAR_046428
Natural varianti2283 – 22831V → I.4 Publications
Corresponds to variant rs41281334 [ dbSNP | Ensembl ].
VAR_027337
Natural varianti2358 – 23581R → Q.3 Publications
Corresponds to variant rs4747194 [ dbSNP | Ensembl ].
VAR_012184
Natural varianti2376 – 23761D → N.
Corresponds to variant rs9663920 [ dbSNP | Ensembl ].
VAR_027338
Natural varianti2376 – 23761D → V in USH1D. 1 Publication
VAR_046429
Natural varianti2380 – 23801P → L.4 Publications
Corresponds to variant rs4747195 [ dbSNP | Ensembl ].
VAR_012185
Natural varianti2465 – 24651R → W in DFNB12. 1 Publication
VAR_027339
Natural varianti2473 – 24731L → P.1 Publication
VAR_046430
Natural varianti2489 – 24891R → H.1 Publication
VAR_046431
Natural varianti2517 – 25171S → G in USH1D. 1 Publication
VAR_027340
Natural varianti2530 – 25301T → I in USH1D. 1 Publication
VAR_046432
Natural varianti2588 – 25881E → Q.3 Publications
Corresponds to variant rs41281338 [ dbSNP | Ensembl ].
VAR_012186
Natural varianti2608 – 26081R → H in DFNB12. 1 Publication
VAR_027341
Natural varianti2669 – 26691I → V.1 Publication
VAR_046433
Natural varianti2744 – 27441G → S in USH1D; atypical. 1 Publication
VAR_027342
Natural varianti2771 – 27711G → S in USH1D. 1 Publication
VAR_046434
Natural varianti2801 – 28011F → V.1 Publication
Corresponds to variant rs3802707 [ dbSNP | Ensembl ].
VAR_046435
Natural varianti2833 – 28331R → G in USH1D; atypical. 1 Publication
VAR_027343
Natural varianti2853 – 28531A → Q Requires 2 nucleotide substitutions.
VAR_046436
Natural varianti2933 – 29331V → E.1 Publication
VAR_027344
Natural varianti2950 – 29501I → N in DFNB12. 1 Publication
VAR_012187
Natural varianti2954 – 29541D → N.1 Publication
VAR_027345
Natural varianti2956 – 29561R → C in DFNB12. 1 Publication
VAR_012188
Natural varianti2962 – 29621N → S.1 Publication
VAR_027346
Natural varianti2968 – 29681V → A in USH1D. 1 Publication
VAR_046437
Natural varianti3059 – 30591P → T in DFNB12. 1 Publication
VAR_012189
Natural varianti3125 – 31251F → L.2 Publications
Corresponds to variant rs45583140 [ dbSNP | Ensembl ].
VAR_012190
Natural varianti3175 – 31751R → C.1 Publication
VAR_046438
Natural varianti3175 – 31751R → H in USH1D. 1 Publication
VAR_027347
Natural varianti3189 – 31891R → W in USH1D and USH1DF. 2 Publications
VAR_024033
Natural varianti3245 – 32451S → F in USH1D. 1 Publication
VAR_024034

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 22402240Missing in isoform 7 and isoform 9.
VSP_044260Add
BLAST
Alternative sequencei1 – 2424MGRHV…GCWGQ → MRSWFQQDPMVGACTTGTRA SHPK in isoform 10 and isoform 11.
VSP_047923Add
BLAST
Alternative sequencei25 – 31273103Missing in isoform 10 and isoform 11.
VSP_047924Add
BLAST
Alternative sequencei143 – 1431E → EVGATG in isoform 8.
VSP_044261
Alternative sequencei379 – 3802Missing in isoform 2 and isoform 8.
VSP_000645
Alternative sequencei484 – 53047ATDND…IQRFT → VSPRFTAGPLSSPGPTVVRH PEGFCPRDLSNQGRRHPQIP ELCLLVY in isoform 5.
VSP_013268Add
BLAST
Alternative sequencei531 – 33542824Missing in isoform 5.
VSP_013269Add
BLAST
Alternative sequencei1124 – 121289LKATD…FTQQQ → EEDLASPCISPAPPRRAFQS SGEKETSQFPGKELRREPGP SKAQNRAAFTEPLAEAPLLG SKQAQEERAPLPREQAQQLQ GSEGEKGGP in isoform 6.
VSP_035289Add
BLAST
Alternative sequencei1213 – 33542142Missing in isoform 6.
VSP_035290Add
BLAST
Alternative sequencei1403 – 14031Missing in isoform 3.
VSP_000646
Alternative sequencei3212 – 324635Missing in isoform 4, isoform 9 and isoform 11.
VSP_000647Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti985 – 9851V → L in AAG27034. 1 Publication
Sequence conflicti1403 – 14031K → V in AAG27034. 1 Publication
Sequence conflicti2173 – 223664EFLNP…AVNIN → ASWEGQSHVTQAYEEAVGPP QPQVPDSTGDRHPLWGLGGF GQEHPWEGQILGGSSQAEPG LVWS in BAB61902. 1 Publication
Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS44429.1. [Q9H251-5]
CCDS53540.1. [Q9H251-7]
RefSeqiNP_001165401.1. NM_001171930.1.
NP_001165402.1. NM_001171931.1.
NP_001165403.1. NM_001171932.1.
NP_001165404.1. NM_001171933.1. [Q9H251-7]
NP_001165405.1. NM_001171934.1. [Q9H251-9]
NP_001165406.1. NM_001171935.1. [Q9H251-10]
NP_001165407.1. NM_001171936.1. [Q9H251-11]
NP_071407.4. NM_022124.5. [Q9H251-1]
NP_443068.1. NM_052836.3. [Q9H251-5]
UniGeneiHs.656032.

Genome annotation databases

EnsembliENST00000398788; ENSP00000381768; ENSG00000107736. [Q9H251-7]
ENST00000398809; ENSP00000381789; ENSG00000107736. [Q9H251-5]
GeneIDi64072.
KEGGihsa:64072.
UCSCiuc001jrw.4. human. [Q9H251-5]
uc001jrx.4. human. [Q9H251-1]
uc001jsg.4. human. [Q9H251-7]

Polymorphism databases

DMDMi408359994.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the CDH23 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS44429.1. [Q9H251-5 ]
CCDS53540.1. [Q9H251-7 ]
RefSeqi NP_001165401.1. NM_001171930.1.
NP_001165402.1. NM_001171931.1.
NP_001165403.1. NM_001171932.1.
NP_001165404.1. NM_001171933.1. [Q9H251-7 ]
NP_001165405.1. NM_001171934.1. [Q9H251-9 ]
NP_001165406.1. NM_001171935.1. [Q9H251-10 ]
NP_001165407.1. NM_001171936.1. [Q9H251-11 ]
NP_071407.4. NM_022124.5. [Q9H251-1 ]
NP_443068.1. NM_052836.3. [Q9H251-5 ]
UniGenei Hs.656032.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KBR NMR - B 3183-3200 [» ]
2KBS NMR - B 3347-3354 [» ]
2LSR NMR - B 3212-3227 [» ]
ProteinModelPortali Q9H251.
SMRi Q9H251. Positions 24-2940.
ModBasei Search...

Protein-protein interaction databases

BioGridi 122042. 3 interactions.
DIPi DIP-48786N.
IntActi Q9H251. 1 interaction.
MINTi MINT-4830802.
STRINGi 9606.ENSP00000381822.

PTM databases

PhosphoSitei Q9H251.

Polymorphism databases

DMDMi 408359994.

Proteomic databases

PaxDbi Q9H251.
PRIDEi Q9H251.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000398788 ; ENSP00000381768 ; ENSG00000107736 . [Q9H251-7 ]
ENST00000398809 ; ENSP00000381789 ; ENSG00000107736 . [Q9H251-5 ]
GeneIDi 64072.
KEGGi hsa:64072.
UCSCi uc001jrw.4. human. [Q9H251-5 ]
uc001jrx.4. human. [Q9H251-1 ]
uc001jsg.4. human. [Q9H251-7 ]

Organism-specific databases

CTDi 64072.
GeneCardsi GC10P073156.
GeneReviewsi CDH23.
H-InvDB HIX0008905.
HGNCi HGNC:13733. CDH23.
HPAi HPA017232.
MIMi 276900. phenotype.
601067. phenotype.
601386. phenotype.
605516. gene.
neXtProti NX_Q9H251.
Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBi PA26296.
HUGEi Search...
Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000139588.
HOVERGENi HBG050768.
KOi K06813.
OrthoDBi EOG7FFMQP.
TreeFami TF320624.

Miscellaneous databases

ChiTaRSi CDH23. human.
EvolutionaryTracei Q9H251.
GeneWikii CDH23.
GenomeRNAii 64072.
NextBioi 65849.
PROi Q9H251.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H251.
Bgeei Q9H251.
CleanExi</