CDH23
CDH23 Gene 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]
Details
| Type | Protein Coding |
| Official Symbol | CDH23 |
| Official Name | cadherin related 23 [Source:HGNC Symbol;Acc:HGNC:13733] |
| Ensembl ID | ENSG00000107736 |
| Bio databases IDs | |
| Aliases | cadherin related 23, cadherin-related family member 23 |
| 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 | Human, Homo sapiens |
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 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 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.
binds
- PCDH15
- MAP3K7
- NCKAP1
- USH1C
- GHRH
- AGAP1
- EMILIN3
- TAF6L
- YEATS2
- GTF2F1
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
regulated by
- Ca2+
- RGS4
- PGR
- MYO7A
- RNF20
regulates
- Ca2+
- MAPT
- HAMP
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 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