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Gene : CDH23 Homo sapiens

Name  ? cadherin related 23 Cytological Location  10q22.1
Brief Description  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]
  • synonyms:
  • NM_052836,
  • OTTHUMG00000019347,
  • USH1D,
  • cadherin-related family member 23,
  • uc057twh.2,
  • AY010111,
  • cadherin-like 23,
  • DFNB12,
  • USH1D,
  • CDHR23,
  • CDHR23,
  • HGNC:13733,
  • CDH23,
  • PITA5
  • identifiers:
  • 64072,
  • ENSG00000107736,
  • CDH23

Genome feature

Region: gene ? Length: 419028  
Location: 10:71396920-71815947 Cyto location: 10q22.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

18 Data Sets

25 Homologues

0 Located Features

97 Rna Seq Results