Cdh23 - cadherin 23 (otocadherin) Gene

Also Known as v; ahl; bob; bus; ahl1; mdfw; sals; USH1D; nmf112; nmf181; nmf252; 4930542A03Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 22295

Summary

Predicted to enable Cadherin binding activity; calcium ion binding activity; and protein N-terminus binding activity. Acts upstream of or within several processes, including animal organ morphogenesis; righting reflex; and sensory perception of sound. Located in several cellular components, including cochlear hair cell ribbon synapse; kinocilium; and stereocilium tip. Is active in photoreceptor ribbon synapse. Is expressed in several structures, including brain; genitourinary system; lung; sensory organ; and thymus. 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, Apr 2022]

Cdh23 Products (2)

mRNA	Protein	Name
NM_001252635.1	NP_001239564.1	cadherin-23 isoform 2 precursor
NM_023370.3	NP_075859.2	cadherin-23 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12485990	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within auditory receptor cell stereocilium organization	IGI IGI: Inferred from genetic interaction	15537665	MGI
acts upstream of or within auditory receptor cell stereocilium organization	IMP IMP: Inferred from mutant phenotype	7610888	MGI
acts upstream of or within cochlea development	IMP IMP: Inferred from mutant phenotype	13336002	MGI
acts upstream of or within inner ear auditory receptor cell differentiation	IMP IMP: Inferred from mutant phenotype	12121736	MGI
acts upstream of or within inner ear development	IMP IMP: Inferred from mutant phenotype	8790740	MGI
acts upstream of or within inner ear morphogenesis	IMP IMP: Inferred from mutant phenotype	7610888	MGI
acts upstream of or within inner ear receptor cell stereocilium organization	IMP IMP: Inferred from mutant phenotype	18339676	MGI
acts upstream of or within locomotory behavior	IMP IMP: Inferred from mutant phenotype	10452381	MGI
acts upstream of or within sensory perception of light stimulus	IMP IMP: Inferred from mutant phenotype	14609561	MGI
acts upstream of or within sensory perception of sound	IGI IGI: Inferred from genetic interaction	9325047	MGI
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	9447922	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	15882574	MGI
is active in cochlear hair cell ribbon synapse	IDA IDA: Inferred from direct assay	19756182	MGI
located in kinocilium	IDA IDA: Inferred from direct assay	15882574	MGI
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	14578428	MGI
is active in photoreceptor ribbon synapse	IDA IDA: Inferred from direct assay	19756182	MGI
located in stereocilium	IDA IDA: Inferred from direct assay	12485990	MGI
located in stereocilium tip	IDA IDA: Inferred from direct assay	12485990	MGI
is active in synapse	IDA IDA: Inferred from direct assay	19756182	MGI
located in synapse	IDA IDA: Inferred from direct assay	14578428	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
cadherin-23	age related hearing loss 1 bobby bustling modifier of deaf waddler otocadherin waltzer

Cdh23 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Cdh23	Q99PF4	Ush1c	Mus musculus	Q9ES64-3	Pull Down	15928608

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02333	CDH23 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21513	Cdh23 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28031	Cdh23 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cdh23	NCBI	NCBI:64072