CDH23 (cadherin related 23)

2012-08-01  

Identity

HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
CDHR23,PITA5,USH1D
FUSION GENES

Other Information

Locus ID:

NCBI: 64072
MIM: 605516
HGNC: 13733
Ensembl: ENSG00000107736

Variants:

dbSNP: 64072
ClinVar: 64072
TCGA: ENSG00000107736
COSMIC: CDH23

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107736ENST00000224721Q9H251
ENSG00000107736ENST00000299366Q8N5B3
ENSG00000107736ENST00000398788Q9H251
ENSG00000107736ENST00000398809A0A0A0MS94
ENSG00000107736ENST00000398842G8JLI8
ENSG00000107736ENST00000442677B1AVV0
ENSG00000107736ENST00000461841Q9H251
ENSG00000107736ENST00000466757R4GN92
ENSG00000107736ENST00000470494A0A087WWD9
ENSG00000107736ENST00000616684A0A087WYR8
ENSG00000107736ENST00000619887Q9H251
ENSG00000107736ENST00000622827A0A087X097
ENSG00000107736ENST00000642965A0A2R8Y6D5
ENSG00000107736ENST00000644511A0A2R8YEM1
ENSG00000107736ENST00000646131A0A2R8Y663

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
124859902002Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.158
189579412010Genome-wide association scan for five major dimensions of personality.80
192682762009Genome-wide association study of smoking initiation and current smoking.77
120755072002CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.72
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
158825742005Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156602262005Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.53
166794902006Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.50
155376652005Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.48

Citation

Dessen P

CDH23 (cadherin related 23)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52846/cdh23-(cadherin-related-23)