Gene
cdh23
- ID
- ZDB-GENE-040513-7
- Name
- cadherin-related 23
- Symbol
- cdh23 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Exhibits transmembrane transporter activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; equilibrioception; and mechanoreceptor differentiation. Localizes to cilium. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma. Is expressed in nervous system and otic vesicle. Orthologous to human CDH23 (cadherin related 23).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 12 | Alliance | Deafness, autosomal recessive 12 | 601386 |
| pituitary adenoma 5 | Alliance | {Pituitary adenoma 5, multiple types} | 617540 |
| Usher syndrome type 1D | Alliance | Usher syndrome, type 1D | 601067 |
| Usher syndrome type 1D | Alliance | Usher syndrome, type 1D/F digenic | 601067 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cadherin | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q6QQE1
|
3366 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance