CDH23 cadherin related 23
Gene ID: 64072, updated on 2-Nov-2024Gene type: protein coding
Also known as: PITA5; USH1D; CDHR23
- See all available tests in GTR for this gene
- Go to complete Gene record for CDH23
- Go to Variation Viewer for CDH23 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. GeneReviews: Not available | |
| Autosomal recessive nonsyndromic hearing loss 12 | See labs |
| Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. GeneReviews: Not available | |
| Genome-wide association study of lung function decline in adults with and without asthma. GeneReviews: Not available | |
| Genome-wide association study of smoking behaviours in patients with COPD. GeneReviews: Not available | |
| Pituitary adenoma 5, multiple types | See labs |
| Usher syndrome type 1D | See labs |
Genomic context
- Location:
- 10q22.1
- Sequence:
- Chromosome: 10; NC_000010.11 (71396920..71815947)
- Total number of exons:
- 71
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDH23 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- CDH23 @ USHbases
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.