Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= CDH23 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CDH23 * **<color #00a2e8>Official Name</color>**: cadherin related 23 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=64072|64072]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H251|Q9H251]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CDH23&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CDH23|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605516|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Cadherin| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |equilibrioception| |inner ear receptor cell stereocilium organization| |stereocilium| |photoreceptor cell maintenance| |inner ear receptor cell development| |calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules| |inner ear receptor cell differentiation| |neuromuscular process controlling balance| |mechanoreceptor differentiation| |retina homeostasis| |neuromuscular process| |sensory perception of sound| |sensory perception of mechanical stimulus| |homophilic cell adhesion via plasma membrane adhesion molecules| |tissue homeostasis| |inner ear development| |locomotory behavior| |ear development| |visual perception| |sensory perception of light stimulus| |calcium ion transport| |cell-cell adhesion via plasma-membrane adhesion molecules| |divalent metal ion transport| |divalent inorganic cation transport| |multicellular organismal homeostasis| |regulation of cytosolic calcium ion concentration| |anatomical structure homeostasis| |cellular calcium ion homeostasis| |calcium ion homeostasis| |cellular divalent inorganic cation homeostasis| |divalent inorganic cation homeostasis| |cell-cell adhesion| |sensory organ development| |cellular metal ion homeostasis| |behavior| |metal ion homeostasis| |cellular cation homeostasis| |metal ion transport| |cellular ion homeostasis| |neuron projection development| |cation homeostasis| |inorganic ion homeostasis| |calcium ion binding| |cellular chemical homeostasis| |ion homeostasis| |neuron development| |cation transport| |cellular homeostasis| |cell adhesion| |biological adhesion| |sensory perception| |neuron differentiation| |chemical homeostasis| |plasma membrane bounded cell projection organization| |cell projection organization| |ion transport| |nervous system process| |generation of neurons| |neurogenesis| |homeostatic process| |cell development| |system process| |membrane| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 3493 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.81 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CDH23 Expression in NALM6 Cells: -0.81'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1