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Aliases for CDH23 Gene

Aliases for CDH23 Gene

  • Cadherin-Related 23 2 3 5
  • Cadherin-Related Family Member 23 2 3
  • Cadherin-Like 23 2 3
  • Otocadherin 3 4
  • Cadherin Related 23 2
  • KIAA1774 4
  • KIAA1812 4
  • CDHR23 3
  • USH1D 3

External Ids for CDH23 Gene

Previous HGNC Symbols for CDH23 Gene

  • DFNB12
  • USH1D

Previous GeneCards Identifiers for CDH23 Gene

  • GC10P071942
  • GC10P072260
  • GC10P073049
  • GC10P072501
  • GC10P072826
  • GC10P073156
  • GC10P067150

Summaries for CDH23 Gene

Entrez Gene Summary for CDH23 Gene

  • This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

GeneCards Summary for CDH23 Gene

CDH23 (Cadherin-Related 23) is a Protein Coding gene. Diseases associated with CDH23 include Usher Syndrome, Type 1D and Deafness, Autosomal Recessive 12. Among its related pathways are ERK Signaling and WNT Signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT4.

UniProtKB/Swiss-Prot for CDH23 Gene

  • 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.

Gene Wiki entry for CDH23 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH23 Gene

Genomics for CDH23 Gene

Regulatory Elements for CDH23 Gene

Enhancers for CDH23 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CDH23 on UCSC Golden Path with GeneCards custom track

Promoters for CDH23 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CDH23 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDH23 Gene

Chromosome:
10
Start:
71,396,934 bp from pter
End:
71,815,947 bp from pter
Size:
419,014 bases
Orientation:
Plus strand

Genomic View for CDH23 Gene

Genes around CDH23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH23 Gene

Proteins for CDH23 Gene

  • Protein details for CDH23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H251-CAD23_HUMAN
    Recommended name:
    Cadherin-23
    Protein Accession:
    Q9H251
    Secondary Accessions:
    • C4IXS9
    • F6U049
    • Q5QGS1
    • Q5QGS2
    • Q5QGS5
    • Q5QGS6
    • Q5XKN2
    • Q6UWW1
    • Q96JL3
    • Q9H4K9

    Protein attributes for CDH23 Gene

    Size:
    3354 amino acids
    Molecular mass:
    369494 Da
    Quaternary structure:
    • antiparallel heterodimer with PCDH15 (By similarity). Interacts with USH1C and USH1G.

    Three dimensional structures from OCA and Proteopedia for CDH23 Gene

    Alternative splice isoforms for CDH23 Gene

neXtProt entry for CDH23 Gene

Proteomics data for CDH23 Gene at MOPED

Post-translational modifications for CDH23 Gene

  • Glycosylation at Asn 155, Asn 206, Asn 349, Asn 393, Asn 434, Asn 466, Asn 472, Asn 652, Asn 694, Asn 765, Asn 810, Asn 827, Asn 941, Asn 1001, Asn 1018, Asn 1171, Asn 1282, Asn 1315, Asn 1473, Asn 1534, Asn 1651, Asn 1667, Asn 1818, Asn 1857, Asn 1889, Asn 1902, Asn 2013, Asn 2050, Asn 2129, Asn 2168, Asn 2195, Asn 2263, Asn 2357, Asn 2369, Asn 2616, Asn 2749, Asn 2808, Asn 2877, Asn 2896, Asn 2941, and Asn 2981
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for CDH23

No data available for DME Specific Peptides for CDH23 Gene

Domains & Families for CDH23 Gene

Gene Families for CDH23 Gene

Protein Domains for CDH23 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CDH23 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H251

UniProtKB/Swiss-Prot:

CAD23_HUMAN :
  • 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.
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.
  • Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15.
  • Contains 27 cadherin domains.
genes like me logo Genes that share domains with CDH23: view

Function for CDH23 Gene

Molecular function for CDH23 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with CDH23: view

Human Phenotype Ontology for CDH23 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDH23 Gene

MGI Knock Outs for CDH23:

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for CDH23 Gene

Localization for CDH23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH23 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDH23 Gene COMPARTMENTS Subcellular localization image for CDH23 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 3
extracellular 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IMP --
genes like me logo Genes that share ontologies with CDH23: view

Pathways & Interactions for CDH23 Gene

genes like me logo Genes that share pathways with CDH23: view

Pathways by source for CDH23 Gene

Gene Ontology (GO) - Biological Process for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IMP 17234811
GO:0007601 visual perception IEA --
GO:0007626 locomotory behavior IEA --
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS 11138009
GO:0045494 photoreceptor cell maintenance IMP 16679490
genes like me logo Genes that share ontologies with CDH23: view

No data available for SIGNOR curated interactions for CDH23 Gene

Drugs & Compounds for CDH23 Gene

(1) Drugs for CDH23 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CDH23: view

Transcripts for CDH23 Gene

Unigene Clusters for CDH23 Gene

Cadherin-related 23:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDH23 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6: - - - -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48a ·
SP1:
SP2: - -
SP3: - -
SP4: -
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11:

ExUns: 48b · 48c ^ 49 ^ 50 ^ 51 ^ 52a · 52b
SP1:
SP2: -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:

Relevant External Links for CDH23 Gene

GeneLoc Exon Structure for
CDH23
ECgene alternative splicing isoforms for
CDH23

Expression for CDH23 Gene

mRNA expression in normal human tissues for CDH23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH23 Gene

This gene is overexpressed in Ovary (x5.8), Esophagus - Gastroesophageal Junction (x4.4), and Esophagus - Muscularis (x4.0).

Protein differential expression in normal tissues from HIPED for CDH23 Gene

This gene is overexpressed in Nasal epithelium (26.0), Heart (14.5), Breast (9.6), and Pancreas (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDH23 Gene



SOURCE GeneReport for Unigene cluster for CDH23 Gene Hs.656032

mRNA Expression by UniProt/SwissProt for CDH23 Gene

Q9H251-CAD23_HUMAN
Tissue specificity: Particularly strong expression in the retina. Found also in the cochlea.
genes like me logo Genes that share expression patterns with CDH23: view

Primer Products

No data available for Protein tissue co-expression partners for CDH23 Gene

Orthologs for CDH23 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDH23 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDH23 35
  • 91.02 (n)
  • 94.69 (a)
dog
(Canis familiaris)
Mammalia CDH23 35
  • 91.17 (n)
  • 94.84 (a)
mouse
(Mus musculus)
Mammalia Cdh23 35
  • 88.07 (n)
  • 94.48 (a)
Cdh23 16
chimpanzee
(Pan troglodytes)
Mammalia CDH23 35
  • 97.24 (n)
  • 96.63 (a)
rat
(Rattus norvegicus)
Mammalia Cdh23 35
  • 87.81 (n)
  • 94.59 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CDH23 36
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDH23 35
  • 77.93 (n)
  • 80.29 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cdh23 35
  • 64.99 (n)
  • 68.46 (a)
zebrafish
(Danio rerio)
Actinopterygii cdh23 35
  • 66.8 (n)
  • 68.04 (a)
CABZ01031627.2 36
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cad74A 37
  • 29 (a)
Cad87A 37
  • 27 (a)
Cad88C 37
  • 26 (a)
Cad89D 37
  • 27 (a)
ft 37
  • 28 (a)
Cad96Cb 36
  • 15 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cdh-12 36
  • 5 (a)
OneToOne
Species with no ortholog for CDH23:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDH23 Gene

ENSEMBL:
Gene Tree for CDH23 (if available)
TreeFam:
Gene Tree for CDH23 (if available)

Paralogs for CDH23 Gene

Paralogs for CDH23 Gene

genes like me logo Genes that share paralogs with CDH23: view

Variants for CDH23 Gene

Sequence variations from dbSNP and Humsavar for CDH23 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs7902757 - 71,439,838(+) TGGGG(C/T)GCCAT nc-transcript-variant, reference, missense
rs1227049 - 71,675,131(+) TGCAG(C/G)CACCT nc-transcript-variant, reference, missense
rs10999947 - 71,675,149(+) AGTCA(A/G)CTACT nc-transcript-variant, reference, missense
VAR_012169 Deafness, autosomal recessive, 12 (DFNB12)
VAR_012170 -

Structural Variations from Database of Genomic Variants (DGV) for CDH23 Gene

Variant ID Type Subtype PubMed ID
esv23135 CNV Loss 19812545
esv2672656 CNV Deletion 23128226
esv2572592 CNV Insertion 19546169
nsv7088 CNV Insertion 18451855
esv271561 CNV Insertion 20981092
esv273539 CNV Insertion 20981092
esv1210256 CNV Insertion 17803354
esv2343384 CNV Deletion 18987734
esv2677320 CNV Deletion 23128226
dgv298e1 CNV Complex 17122850
nsv523021 CNV Gain 19592680
nsv895714 CNV Loss 21882294
dgv113e201 CNV Deletion 23290073
esv2738295 CNV Deletion 23290073
esv1958657 CNV Deletion 18987734
esv4865 CNV Deletion 18987735
esv1004182 CNV Deletion 20482838
esv2676562 CNV Deletion 23128226
nsv24403 CNV Loss 16902084
esv1648968 CNV Deletion 17803354
esv2738317 CNV Deletion 23290073
nsv524906 CNV Loss 19592680
nsv524489 CNV Loss 19592680
nsv7099 CNV Insertion 18451855
nsv467373 CNV Loss 19166990
nsv467374 CNV Gain 19166990
nsv818774 CNV Loss 17921354
nsv467375 CNV Loss 19166990
esv23349 CNV Gain 19812545
nsv831910 CNV Loss 17160897
nsv470963 CNV Loss 18288195
esv2738328 CNV Deletion 23290073
nsv895715 CNV Loss 21882294
esv2658220 CNV Deletion 23128226
nsv895716 CNV Loss 21882294
esv1096295 CNV Deletion 17803354
esv998631 CNV Loss 20482838

Variation tolerance for CDH23 Gene

Residual Variation Intolerance Score: 9.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 31.45; 99.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDH23 Gene

Human Gene Mutation Database (HGMD)
CDH23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH23 Gene

Disorders for CDH23 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CDH23 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type 1d
  • usher syndrome, type 1d/f digenic
deafness, autosomal recessive 12
  • deafness, autosomal recessive 12, modifier of
dfnb12 nonsyndromic hearing loss and deafness
  • dfnb 12 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
usher syndrome
  • deafness-retinitis pigmentosa syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CDH23 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAD23_HUMAN
  • 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. {ECO:0000269 PubMed:11090341, ECO:0000269 PubMed:12075507, ECO:0000269 PubMed:12522556, ECO:0000269 PubMed:15829536, ECO:0000269 PubMed:16679490, ECO:0000269 PubMed:17850630, ECO:0000269 PubMed:22899989, ECO:0000269 PubMed:24767429}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11138009, ECO:0000269 PubMed:12075507, ECO:0000269 PubMed:15660226, ECO:0000269 PubMed:16679490, ECO:0000269 PubMed:18429043}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. {ECO:0000269 PubMed:15537665}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Relevant External Links for CDH23

Genetic Association Database (GAD)
CDH23
Human Genome Epidemiology (HuGE) Navigator
CDH23
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDH23
genes like me logo Genes that share disorders with CDH23: view

No data available for Genatlas for CDH23 Gene

Publications for CDH23 Gene

  1. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID: 15660226) Ouyang X.M. … Liu X.Z. (Hum. Genet. 2005) 3 4 23 48 67
  2. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (PMID: 11090341) Bork J.M. … Morell R.J. (Am. J. Hum. Genet. 2001) 2 3 23
  3. Genome-wide association scan for five major dimensions of personality. (PMID: 18957941) Terracciano A. … Costa P.T. (Mol. Psychiatry 2010) 3 23
  4. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. (PMID: 19297620) Pan L. … Zhang M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  5. Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. (PMID: 19756182) Lagziel A. … Friedman T.B. (Mol. Vis. 2009) 3 23

Products for CDH23 Gene

Sources for CDH23 Gene

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