Cdh23 Gene Summary [Mouse]
Predicted to enable beta-catenin binding activity and cadherin binding activity. Acts upstream of or within several processes, including inner ear development; righting reflex; and sensory perception of sound. Located in several cellular components, including kinocilium; photoreceptor inner segment; and stereocilium tip. Is active in cochlear hair cell ribbon synapse and photoreceptor ribbon synapse. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and sensory organ. Used to study Usher syndrome type 1D and autosomal recessive nonsyndromic deafness 12. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma 5. Orthologous to human CDH23 (cadherin related 23). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cdh23 |
| Official Name | cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219] |
| Ensembl ID | ENSMUSG00000012819 |
| Bio databases IDs | |
| Aliases | cadherin 23 (otocadherin) |
| Synonyms | 4930542A03Rik, AHL, ahl1, bob, bus, Cadherin 23, cadherin-related 23, cadherin related 23 (otocadherin), CDHR23, LOC103694885, mdfw, nmf112, nmf181, nmf252, Otocadherin, PITA5, sals, USH1D |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cdh23 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- cytoplasmic domain
- transmembrane domain
- Cadherin repeat-like domain
- protein binding
- cytosolic tail domain
- extracellular cadherin structural domain
- transporter
Pathways
Biological processes and signaling networks where the Cdh23 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- open-angle glaucoma
- ocular hypertension
- benign neoplasia
- epithelial neoplasia
- breast cancer
- adenoma formation
- hereditary cancer-predisposing syndrome
- familial neoplasia
- head and neck neuroendocrine neoplasia
- head and neck neoplasia
phenotypes
- abnormal gait
- absent pinna reflex
- decreased circulating LDL cholesterol level
- decreased circulating calcium level
- decreased circulating cholesterol level
- decreased circulating glucose level
- decreased circulating insulin level
- decreased circulating triglyceride level
- decreased erythrocyte cell number
- decreased fasting circulating glucose level
- decreased leukocyte cell number
- decreased total body fat amount
- impaired righting response
- increased bone mineral content
- increased circulating chloride level
- increased circulating sodium level
- increased lean body mass
- increased mean corpuscular hemoglobin
- preweaning lethality incomplete penetrance
- stereotypic behavior
- trunk curl
- abnormal adipose tissue amount
- abnormal auditory brainstem response
- abnormal body length
- abnormal circulating chloride level
- abnormal circulating glucose level
- abnormal circulating sodium level
- abnormal cochlea morphology
- abnormal cochlear ganglion morphology
- abnormal cochlear hair bundle tip links morphology
- abnormal cochlear hair cell inter-stereocilial links morphology
- abnormal cochlear hair cell morphology
- abnormal cochlear hair cell physiology
- abnormal cochlear hair cell stereociliary bundle morphology
- abnormal cochlear nerve compound action potential
- abnormal cochlear outer hair cell morphology
- abnormal cochlear outer hair cell physiology
- abnormal cochlear sensory epithelium morphology
- abnormal defecation
- abnormal distortion product otoacoustic emission
- abnormal ear morphology
- abnormal ear physiology
- abnormal ear position
- abnormal erythrocyte cell number
- abnormal eye electrophysiology
- abnormal hair cell mechanoelectric transduction
- abnormal hearing physiology
- abnormal inner ear morphology
- abnormal inner hair cell kinocilium morphology
- abnormal inner hair cell stereociliary bundle morphology
- abnormal lean body mass
- abnormal locomotor behavior
- abnormal maternal nurturing
- abnormal mean corpuscular hemoglobin
- abnormal motor capabilities/coordination/movement
- abnormal organ of Corti morphology
- abnormal orientation of cochlear hair cell stereociliary bundles
- abnormal orientation of inner hair cell stereociliary bundles
- abnormal orientation of outer hair cell stereociliary bundles
- abnormal otolith morphology
- abnormal outer hair cell kinocilium location or orientation
- abnormal outer hair cell kinocilium morphology
- abnormal outer hair cell stereociliary bundle morphology
- abnormal reflex
- abnormal response to novelty
- abnormal startle reflex
- abnormal stationary movement
- abnormal stria vascularis morphology
- abnormal vestibular hair cell stereociliary bundle morphology
- abnormal vestibular system physiology
- absent distortion product otoacoustic emissions
- absent linear vestibular evoked potential
- absent outer hair cell stereocilia
- absent startle reflex
- ataxia
- bidirectional circling
- circling
- cochlear ganglion degeneration
- cochlear ganglion hypoplasia
- cochlear hair cell degeneration
- cochlear inner hair cell degeneration
- cochlear outer hair cell degeneration
- deafness
- decreased a wave implicit time
- decreased b wave implicit time
- decreased body weight
- decreased cochlear hair cell number
- decreased cochlear hair cell stereocilia number
- decreased cochlear inner hair cell number
- decreased cochlear outer hair cell number
- decreased grooming behavior
- decreased litter size
- decreased outer hair cell stereocilia number
- decreased startle reflex
- decreased vertical activity
- head bobbing
- head shaking
- head tilt
- head tossing
- hyperactivity
- impaired hearing
- impaired swimming
- increased or absent threshold for auditory brainstem response
- increased susceptibility to age-related hearing loss
- increased susceptibility to noise-induced hearing loss
- novel environmental response-related retropulsion
- organ of Corti degeneration
- stria vascularis degeneration
- tremors
- vestibular saccular degeneration
- vestibular saccular macula degeneration
role in cell
- number
- organization
- adhesion
- migration
- differentiation
- growth
- abnormal morphology
- scattering
- maintenance
- mechanotransduction
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- type I auditory nerve fiber
- stereocilia tip
- kinocilia
- apical compartment
- cellular membrane
- centrosome
- stereocilia
- nuclear scaffolds
- synapse
- photoreceptor inner segments
- stereocilia bundles
- ribbon synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cdh23 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- auditory receptor cell stereocilium organization
- calcium-dependent cell-cell adhesion
- cochlea development
- neuron projection development
- multicellular organismal development
- cytosolic calcium ion homeostasis
- homophilic cell adhesion
- visual perception
- sensory perception of sound
- locomotory behavior
- photoreceptor cell maintenance
- calcium ion transport
- equilibrioception
- sensory perception of light stimulus
- cell migration
Cellular Component
Where in the cell the gene product is active
- centrosome
- membrane
- kinocilium
- catenin complex
- stereocilium
- photoreceptor inner segment
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- calcium ion binding
- beta-catenin binding