Gene: CDH23 (cadherin related 23) Homo sapiens
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Symbol: CDH23
Name: cadherin related 23
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cadherin-23; cadherin-like 23; cadherin-related 23; cadherin-related family member 23; CDHR23; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; otocadherin; PITA5; USH1D
Orthologs:
Mus musculus (house mouse) : Cdh23 (cadherin 23 (otocadherin))  MGI  Alliance
Rattus norvegicus (Norway rat) : Cdh23 (cadherin-related 23)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cdh23 (cadherin related 23)
Pan paniscus (bonobo/pygmy chimpanzee) : CDH23 (cadherin related 23)
Canis lupus familiaris (dog) : CDH23 (cadherin related 23)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cdh23 (cadherin related 23)
Sus scrofa (pig) : CDH23 (cadherin related 23)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381071,396,934 - 71,815,947 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371073,156,691 - 73,575,704 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,826,697 - 73,245,710 (+)NCBINCBI36hg18NCBI36
Build 341072,826,696 - 73,076,543NCBI
Celera1066,439,492 - 66,858,274 (+)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1067,150,783 - 67,156,961 (+)NCBIHuRef
CHM1_11073,439,263 - 73,857,682 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Sequence

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