CDH23

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.^[5][6][7]

CDH23
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KBR, 2KBS, 2LSR
Identifiers
Aliases	CDH23, CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
External IDs	OMIM: 605516; MGI: 1890219; HomoloGene: 11142; GeneCards: CDH23; OMA:CDH23 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q22.1 Start 71,396,920 bp[1] End 71,815,947 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B4|10 30.11 cM Start 60,138,527 bp[2] End 60,532,269 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone left ovary right ovary right hemisphere of cerebellum granulocyte right lobe of liver monocyte sural nerve apex of heart left uterine tube Top expressed in spermatid granulocyte gastrula lumbar subsegment of spinal cord lumbar spinal ganglion zygote seminiferous tubule spermatocyte submandibular gland morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding calcium ion binding protein binding Cellular component plasma membrane membrane stereocilium integral component of membrane Biological process equilibrioception calcium ion transport homophilic cell adhesion via plasma membrane adhesion molecules photoreceptor cell maintenance inner ear receptor cell stereocilium organization locomotory behavior visual perception sensory perception of light stimulus calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules response to stimulus regulation of cytosolic calcium ion concentration cell adhesion hearing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64072 22295 Ensembl ENSG00000107736 ENSMUSG00000012819 UniProt Q9H251 Q6P152 Q99PF4 RefSeq (mRNA) NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836 NM_001252635 NM_023370 RefSeq (protein) NP_001165401 NP_001165402 NP_001165403 NP_001165404 NP_001165405 NP_001165406 NP_001165407 NP_071407 NP_443068 NP_001165401.1 NP_071407.4 NP_001239564 NP_075859 Location (UCSC) Chr 10: 71.4 – 71.82 Mb Chr 10: 60.14 – 60.53 Mb PubMed search [3] [4]
Wikidata
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Function

This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments.^[8]

Clinical significance

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 novel cadherin-like gene.^[7][9] The gene is associated with kidney function decline.^[10]

Interactions

CDH23 has been shown to interact with USH1C.^[11][12]