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 a... See more...

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
  • Cadherin-23 3 4
  • Otocadherin 3 4
  • KIAA1774 4
  • KIAA1812 4
  • CDHR23 3
  • PITA5 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 Pituitary Adenoma 5, Multiple Types and Deafness, Autosomal Recessive 12. Among its related pathways are Nanog in Mammalian ESC Pluripotency and S-1P Stimulated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CDH23 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH23 Gene

Genomics for CDH23 Gene

GeneHancer (GH) Regulatory Elements for CDH23 Gene

Promoters and enhancers for CDH23 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J071396 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 602 3.4 CTCF ZIC2 GABPA ZBTB26 REST RAD21 EZH2 SMC3 HDAC2 ZBTB17 CDH23 lnc-C10orf105-2 piR-59792 SLC29A3
GH10J071762 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.2 +373.1 373070 14.1 HNRNPK ZBTB40 ZNF217 CTCF TCF12 SP1 GTF2E2 JUND PHF8 FOS VSIR CDH23 C10orf105 PSAP SPOCK2 lnc-C10orf105-4
GH10J071745 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +355.9 355852 15.3 CTCF SP1 GTF2E2 FOS EP300 REST ZBTB11 AFF1 TARDBP HES1 VSIR DNAJB12 CDH23 C10orf105 ANAPC16 lnc-C10orf105-4
GH10J071726 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +330.8 330768 4.3 ZNF217 CTCF SP1 ZIC2 ZNF423 RFX1 REST CTBP1 EP300 EZH2 VSIR CDH23 C10orf105 PSAP lnc-C10orf105-3
GH10J071258 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -129.2 -129219 17.8 CTCF ZSCAN5C POLR2G GTF2E2 JUND FOS ZNF639 ZNF10 ZIC2 ZBTB10 UNC5B UNC5B-AS1 SLC29A3 CDH23-AS1 CDH23 PCBD1 piR-41736 piR-36302
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH23 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH23

Top Transcription factor binding sites by QIAGEN in the CDH23 gene promoter:
  • AML1a
  • AP-4
  • c-Ets-1
  • CREB
  • deltaCREB
  • GATA-1
  • Lhx3a
  • Max1
  • RSRFC4
  • SEF-1 (1)

Genomic Locations for CDH23 Gene

Genomic Locations for CDH23 Gene
chr10:71,396,920-71,815,947
(GRCh38/hg38)
Size:
419,028 bases
Orientation:
Plus strand
chr10:73,156,691-73,575,704
(GRCh37/hg19)
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 (PubMed:19297620, PubMed:21436032).

    Three dimensional structures from OCA and Proteopedia for CDH23 Gene

    Alternative splice isoforms for CDH23 Gene

neXtProt entry for CDH23 Gene

Post-translational modifications for CDH23 Gene

  • Glycosylation at Asn2263, Asn2357, Asn2369, Asn155, Asn206, Asn349, Asn2616, Asn393, Asn434, Asn466, Asn472, Asn2749, Asn2808, Asn2877, Asn652, Asn2896, Asn694, Asn2941, Asn2981, Asn765, Asn810, Asn827, Asn941, Asn1001, Asn1018, Asn1171, Asn1282, Asn1315, Asn1473, Asn1534, Asn1651, Asn1667, Asn1818, Asn1857, Asn1889, Asn1902, Asn2013, Asn2050, Asn2129, Asn2168, and Asn2195
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CAD23_HUMAN (2025)

No data available for DME Specific Peptides for CDH23 Gene

Domains & Families for CDH23 Gene

Gene Families for CDH23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CDH23 Gene

Blocks:
  • Cadherin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDH23 Gene

GenScript: Design optimal peptide antigens:
  • CDH23 protein (A5D6V9_HUMAN)
  • Cadherin-like 23 (B1AVV0_HUMAN)
  • Otocadherin (CAD23_HUMAN)
  • CDH23 protein (Q32P55_HUMAN)
  • Cadherin 23 isoform B2 (Q5QGS1_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for CDH23 Gene

Gene Ontology (GO) - Molecular Function for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA,IEA 21873635
GO:0005515 protein binding IPI 12485990
GO:0008092 cytoskeletal protein binding IBA 21873635
GO:0042803 protein homodimerization activity IBA 21873635
GO:0045296 cadherin binding IBA 21873635
genes like me logo Genes that share ontologies with CDH23: view
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:
  • Cdh23 Cdh23<tm2b(EUCOMM)Wtsi>
  • Cdh23 Cdh23<tm1.2Ugds>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH23 gene
Compartment Confidence
plasma membrane 4
extracellular 3
mitochondrion 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0005913 cell-cell adherens junction IBA 21873635
GO:0009986 cell surface IBA 21873635
GO:0016020 membrane IEA,NAS 11138009
genes like me logo Genes that share ontologies with CDH23: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDH23 Gene

Pathways & Interactions for CDH23 Gene

PathCards logo

SuperPathways for CDH23 Gene

SuperPathway Contained pathways
1 G12-G13 in Cellular Signaling
-
2 Nanog in Mammalian ESC Pluripotency
.61
3 ERK Signaling
.49
4 S-1P Stimulated Signaling
-
5 WNT Signaling
-
genes like me logo Genes that share pathways with CDH23: view

Pathways by source for CDH23 Gene

5 Qiagen pathways for CDH23 Gene
  • G12-G13 in Cellular Signaling
  • GSK3 Signaling
  • ILK Signaling
  • S-1P Stimulated Signaling
  • WNT Signaling

Gene Ontology (GO) - Biological Process for CDH23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0006816 calcium ion transport IMP 17234811
GO:0007043 cell-cell junction assembly IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA,IEA 21873635
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

(2) Drugs for CDH23 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Methylphenidate Approved, Investigational Pharma 418
genes like me logo Genes that share compounds with CDH23: view

Transcripts for CDH23 Gene

mRNA/cDNA for CDH23 Gene

9 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for CDH23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for CDH23 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH23

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 (PubMed:11138009). Found also in the cochlea.

Evidence on tissue expression from TISSUES for CDH23 Gene

  • Eye(4.5)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH23 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • middle ear
  • nose
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CDH23: view

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
chimpanzee
(Pan troglodytes)
Mammalia CDH23 30
  • 97.24 (n)
dog
(Canis familiaris)
Mammalia CDH23 30
  • 91.17 (n)
cow
(Bos Taurus)
Mammalia CDH23 30
  • 91.02 (n)
mouse
(Mus musculus)
Mammalia Cdh23 17 30
  • 88.07 (n)
rat
(Rattus norvegicus)
Mammalia Cdh23 30
  • 87.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CDH23 31
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDH23 30
  • 77.93 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cdh23 30
  • 64.99 (n)
zebrafish
(Danio rerio)
Actinopterygii cdh23 30
  • 66.8 (n)
CABZ01031627.2 31
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cad74A 32
  • 29 (a)
ft 32
  • 28 (a)
Cad87A 32
  • 27 (a)
Cad89D 32
  • 27 (a)
Cad88C 32
  • 26 (a)
Cad96Cb 31
  • 15 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cdh-12 31
  • 5 (a)
OneToOne
Species where no ortholog for CDH23 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CDH23: view image

Paralogs for CDH23 Gene

(15) SIMAP similar genes for CDH23 Gene using alignment to 11 proteins:

  • CAD23_HUMAN
  • A5D6V9_HUMAN
  • B1AVV0_HUMAN
  • G3XCN8_HUMAN
  • G8JLI8_HUMAN
  • L8EAB0_HUMAN
  • Q32P55_HUMAN
  • Q6P152_HUMAN
  • Q8N5B3_HUMAN
  • R4GN22_HUMAN
  • R4GN92_HUMAN
genes like me logo Genes that share paralogs with CDH23: view

Variants for CDH23 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH23 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
560725 Uncertain Significance: Deafness, autosomal recessive 12 71,732,200(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
560886 Pathogenic: Deafness 71,791,284(+) A/C MISSENSE_VARIANT
585305 Pathogenic: Usher syndrome, type 1D 71,615,617(+) G/A SPLICE_DONOR_VARIANT
585306 Pathogenic: Usher syndrome, type 1D; Deafness, autosomal recessive 84 71,738,496(+) A/G SPLICE_ACCEPTOR_VARIANT
593470 Uncertain Significance: not provided 71,791,332(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CDH23 Gene

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

Variant ID Type Subtype PubMed ID
dgv101e201 CNV deletion 23290073
dgv476n106 CNV tandem duplication 24896259
esv1004182 CNV deletion 20482838
esv1096295 CNV deletion 17803354
esv1210256 CNV insertion 17803354
esv1648968 CNV deletion 17803354
esv1958657 CNV deletion 18987734
esv23135 CNV loss 19812545
esv23349 CNV gain 19812545
esv2343384 CNV deletion 18987734
esv2572592 CNV insertion 19546169
esv2658220 CNV deletion 23128226
esv2672656 CNV deletion 23128226
esv2676562 CNV deletion 23128226
esv2677320 CNV deletion 23128226
esv2738295 CNV deletion 23290073
esv2738317 CNV deletion 23290073
esv2738328 CNV deletion 23290073
esv2759766 CNV loss 17122850
esv3307285 CNV mobile element insertion 20981092
esv3309266 CNV mobile element insertion 20981092
esv3546487 CNV deletion 23714750
esv3546488 CNV deletion 23714750
esv3623774 CNV loss 21293372
esv3623777 CNV loss 21293372
esv3623778 CNV loss 21293372
esv3623779 CNV loss 21293372
esv3623780 CNV loss 21293372
esv4865 CNV loss 18987735
esv998631 CNV loss 20482838
nsv1044971 CNV gain 25217958
nsv1113312 CNV deletion 24896259
nsv1122536 CNV deletion 24896259
nsv1127122 CNV deletion 24896259
nsv1134024 CNV deletion 24896259
nsv1137935 CNV deletion 24896259
nsv1143509 CNV deletion 24896259
nsv1147297 CNV deletion 26484159
nsv1152630 CNV deletion 26484159
nsv24403 CNV deletion 16902084
nsv467373 CNV loss 19166990
nsv467374 CNV gain 19166990
nsv467375 CNV loss 19166990
nsv470963 CNV loss 18288195
nsv475788 CNV novel sequence insertion 20440878
nsv523021 CNV gain 19592680
nsv524489 CNV loss 19592680
nsv524906 CNV loss 19592680
nsv551501 CNV gain 21841781
nsv551502 CNV gain 21841781
nsv551503 CNV loss 21841781
nsv551504 CNV gain 21841781
nsv551505 CNV loss 21841781
nsv551506 CNV loss 21841781
nsv551507 CNV loss 21841781
nsv7088 CNV insertion 18451855
nsv7099 CNV insertion 18451855
nsv818774 CNV loss 17921354
nsv831910 CNV loss 17160897

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)

Additional Variant Information for CDH23 Gene

Human Gene Mutation Database (HGMD)
CDH23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH23

SNP Genotyping and Copy Number Assay Products

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

Disorders for CDH23 Gene

MalaCards: The human disease database

(68) MalaCards diseases for CDH23 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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.
  • 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.
  • Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]: A 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. {ECO:0000269 PubMed:28413019}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for CDH23

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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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 XM … Liu XZ (Human genetics 2005) 3 4 23 41 54
  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 JM … Morell RJ (American journal of human genetics 2001) 2 3 4 23 54
  3. Genome-wide association scan for five major dimensions of personality. (PMID: 18957941) Terracciano A … Costa PT (Molecular psychiatry 2010) 3 23 41 54
  4. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. (PMID: 19297620) Pan L … Zhang M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23 54
  5. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. (PMID: 18429043) Oshima A … Kimberling WJ (Human mutation 2008) 3 4 23 54

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