| Entrez Gene ID | 64072 |
|---|---|
| Official Gene Symbol | CDH23 (GeneCards) |
| Full name | cadherin related 23 |
| Location | 10q22.1 |
| Other ids | Vega : OTTHUMG00000019347 MIM : 605516 HGNC : HGNC:13733 Ensembl : ENSG00000107736 |
| Other names | PITA5, USH1D, CDHR23 |
| 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14347 | 64072 | CDH23 | 10 | 73326620 | 73326620 | Asymptomatic | HiSeq X Ten |
| 14711 | 64072 | CDH23 | 10 | 73272898 | 73272898 | Cockayne syndrome | HiSeq X Ten |
| 14750 | 64072 | CDH23 | 10 | 73383924 | 73383924 | Cockayne syndrome | HiSeq X Ten |
| 27019 | 64072 | CDH23 | 10 | 73457821 | 73457821 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |