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MOUSE:CAD23

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Cdh23
Protein Name(s) Cadherin-23

Otocadherin

External Links
UniProt Q99PF4
EMBL AF308939
AY026062
AK016365
AC079082
AC079818
AC079819
AC153517
RefSeq NP_075859.2
UniGene Mm.440327
PDB 2WBX
2WCP
2WD0
2WHV
3MVS
4APX
4AQ8
4AQA
4AQE
4AXW
PDBsum 2WBX
2WCP
2WD0
2WHV
3MVS
4APX
4AQ8
4AQA
4AQE
4AXW
ProteinModelPortal Q99PF4
SMR Q99PF4
BioGrid 204475
DIP DIP-42152N
IntAct Q99PF4
MINT MINT-1895823
PhosphoSite Q99PF4
PaxDb Q99PF4
PRIDE Q99PF4
Ensembl ENSMUST00000105461
ENSMUST00000105463
GeneID 22295
KEGG mmu:22295
UCSC uc007fev.2
CTD 64072
MGI MGI:1890219
eggNOG NOG12793
GeneTree ENSGT00760000118805
HOGENOM HOG000139588
HOVERGEN HBG050768
InParanoid Q99PF4
KO K06813
OMA DVTEGQP
TreeFam TF316403
EvolutionaryTrace Q99PF4
NextBio 302447
PRO PR:Q99PF4
Proteomes UP000000589
Bgee Q99PF4
ExpressionAtlas Q99PF4
Genevestigator Q99PF4
GO GO:0005813
GO:0016021
GO:0060091
GO:0001917
GO:0005886
GO:0032420
GO:0032426
GO:0045202
GO:0005509
GO:0042491
GO:0060088
GO:0016339
GO:0007155
GO:0007156
GO:0048839
GO:0042472
GO:0007626
GO:0048563
GO:0050953
GO:0007605
Gene3D 2.60.40.60
InterPro IPR002126
IPR015919
IPR020894
Pfam PF00028
PRINTS PR00205
SMART SM00112
SUPFAM SSF49313
PROSITE PS00232
PS50268

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0032420

stereocilium

PMID:12485990[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0098684

photoreceptor ribbon synapse

PMID:19756182[2]

ECO:0006062

wide-field fluorescence microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0098684

photoreceptor ribbon synapse

PMID:19756182[2]

ECO:0005589

confocal microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0098683

cochlear hair cell ribbon synapse

PMID:19756182[2]

ECO:0006062

wide-field fluorescence microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0098683

cochlear hair cell ribbon synapse

PMID:19756182[2]

ECO:0005589

confocal microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:19756182[2]

ECO:0006062

wide-field fluorescence microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:19756182[2]

ECO:0006062

wide-field fluorescence microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:19756182[2]

ECO:0005589

confocal microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:19756182[2]

ECO:0005589

confocal microscopy evidence used in manual assertion

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060122

inner ear receptor cell stereocilium organization

PMID:18339676[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154548

P

occurs_in:(EMAPA:19151)

Seeded From UniProt

complete

part_of

GO:0060091

kinocilium

PMID:15882574[4]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17597)
  • part_of:(CL:0000202)|part_of:(EMAPA:17597)
  • part_of:(CL:0000202)|part_of:(EMAPA:17597)
  • part_of:(CL:0000202)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:15537665[5]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:1891428

P

  • occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000601)|occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000589)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:9039475[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

  • occurs_in:(EMAPA:17815)
  • occurs_in:(CL:0000609)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:8790740[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

  • occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000601)|occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000589)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:7610888[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

  • occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000601)|occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000589)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:23217710[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154548

P

  • occurs_in:(EMAPA:17598)
  • occurs_in:(CL:0000202)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:17050716[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154548

P

  • occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000589)|occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000601)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:12121736[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:11322776[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154549

P

  • occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000601)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060088

auditory receptor cell stereocilium organization

PMID:11138008[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154548

P

  • occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000589)|occurs_in:(EMAPA:19151)
  • occurs_in:(CL:0000601)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051480

regulation of cytosolic calcium ion concentration

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9H251

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050957

equilibrioception

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9H251

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050953

sensory perception of light stimulus

PMID:14609561[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050953

sensory perception of light stimulus

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9H251

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048839

inner ear development

PMID:8790740[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

results_in_development_of:(EMAPA:19151)|results_in_development_of:(EMAPA:35827)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048839

inner ear development

PMID:14759567[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3028349

P

results_in_development_of:(EMAPA:19151)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048839

inner ear development

PMID:13336002[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048563

post-embryonic animal organ morphogenesis

PMID:13336002[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

enables

GO:0047485

protein N-terminus binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:619760

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045494

photoreceptor cell maintenance

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9H251

P

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:14578428[17]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0045177

apical part of cell

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:619760

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042491

inner ear auditory receptor cell differentiation

PMID:12121736[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042472

inner ear morphogenesis

PMID:7610888[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042472

inner ear morphogenesis

PMID:15925194[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2665714

P

Seeded From UniProt

complete

part_of

GO:0032426

stereocilium tip

PMID:24920589[19]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(CL:0000601)
  • part_of:(EMAPA:17597)

Seeded From UniProt

complete

part_of

GO:0032426

stereocilium tip

PMID:17050716[10]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17293)
  • part_of:(CL:0000609)|part_of:(EMAPA:17290)
  • part_of:(CL:0000609)

Seeded From UniProt

complete

part_of

GO:0032426

stereocilium tip

PMID:12485990[1]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17286)
  • part_of:(CL:0000609)

Seeded From UniProt

complete

part_of

GO:0032420

stereocilium

PMID:17050716[10]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17293)
  • part_of:(CL:0000609)|part_of:(EMAPA:17290)
  • part_of:(CL:0000609)

Seeded From UniProt

complete

part_of

GO:0032420

stereocilium

PMID:16481439[20]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:19151)
  • part_of:(CL:0000601)|part_of:(EMAPA:19151)
  • part_of:(CL:0000589)

Seeded From UniProt

complete

part_of

GO:0032420

stereocilium

PMID:15882574[4]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17597)
  • part_of:(CL:0000601)|part_of:(EMAPA:17597)
  • part_of:(CL:0000589)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0016339

calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules

PMID:11138009[21]

ECO:0000250

sequence similarity evidence used in manual assertion

P

Seeded From UniProt

Missing: with/from

acts_upstream_of_or_within

GO:0007626

locomotory behavior

PMID:16962269[22]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154547
MGI:MGI:2154548

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007626

locomotory behavior

PMID:11386759[23]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856412

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007626

locomotory behavior

PMID:10452381[24]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:9325047[25]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:105368

P

has_participant:(EMAPA:32678)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:15537665[5]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:1891428

P

has_participant:(EMAPA:36002)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:9447922[26]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3028349

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:17329413[27]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3708379

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:15925194[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2665714

P

has_participant:(EMAPA:36002)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:15820310[28]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3028349

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:14759567[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3028349

P

has_participant:(EMAPA:36002)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:13336002[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:12121736[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856228

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:11322776[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154549

P

has_participant:(EMAPA:36002)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:11138008[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154548

P

has_participant:(EMAPA:36002)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

PMID:10452381[24]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856681

P

has_participant:(EMAPA:36002)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007605

sensory perception of sound

GO_REF:0000008

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9H251

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006816

calcium ion transport

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9H251

P

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

PMID:15882574[4]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17597)
  • part_of:(CL:0000202)

Seeded From UniProt

complete

part_of

GO:0001917

photoreceptor inner segment

PMID:14578428[17]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005509

calcium ion binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002126
InterPro:IPR015919

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR020894

C

Seeded From UniProt

complete

involved_in

GO:0007155

cell adhesion

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR020894

P

Seeded From UniProt

complete

involved_in

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002126

P

Seeded From UniProt

complete

involved_in

GO:0007605

sensory perception of sound

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033030

P

Seeded From UniProt

complete

involved_in

GO:0007626

locomotory behavior

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033030

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002126
InterPro:IPR015919

C

Seeded From UniProt

complete

part_of

GO:0032420

stereocilium

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033030

C

Seeded From UniProt

complete

involved_in

GO:0060122

inner ear receptor cell stereocilium organization

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033030

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007155

cell adhesion

PMID:11138009[21]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007605

sensory perception of sound

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1009

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

involved_in

GO:0007155

cell adhesion

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0130

P

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Boëda, B et al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 21 6689-99 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Lagziel, A et al. (2009) Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. Mol. Vis. 15 1843-57 PubMed GONUTS page
  3. Lefèvre, G et al. (2008) A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development 135 1427-37 PubMed GONUTS page
  4. 4.0 4.1 4.2 Lagziel, A et al. (2005) Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev. Biol. 280 295-306 PubMed GONUTS page
  5. 5.0 5.1 Zheng, QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum. Mol. Genet. 14 103-11 PubMed GONUTS page
  6. Moriyama, K et al. (1997) Degenerative hairlets on the vestibular sensory cells in mutant bustling (BUS/Idr) mice. Acta Otolaryngol. 117 20-4 PubMed GONUTS page
  7. 7.0 7.1 Yonezawa, S et al. (1996) Cochlear histopathology of the mutant bustling mouse, BUS/Idr. Acta Otolaryngol. 116 409-16 PubMed GONUTS page
  8. 8.0 8.1 Otani, H et al. (1995) Vestibulocochlear defects and effects of deuterium oxide in mutant bustling (BUS) mice. Acta Otolaryngol Suppl 519 286-93 PubMed GONUTS page
  9. Xiong, W et al. (2012) TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell 151 1283-95 PubMed GONUTS page
  10. 10.0 10.1 10.2 Phillips, KR et al. (2006) Stereociliary myosin-1c receptors are sensitive to calcium chelation and absent from cadherin 23 mutant mice. J. Neurosci. 26 10777-88 PubMed GONUTS page
  11. 11.0 11.1 11.2 Holme, RH & Steel, KP (2002) Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear. Res. 169 13-23 PubMed GONUTS page
  12. 12.0 12.1 Wada, T et al. (2001) A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem. Biophys. Res. Commun. 283 113-7 PubMed GONUTS page
  13. 13.0 13.1 Di Palma, F et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat. Genet. 27 103-7 PubMed GONUTS page
  14. Libby, RT et al. (2003) Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp. Eye Res. 77 731-9 PubMed GONUTS page
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