CDH23
Sign in to saveAlso known as CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
In the Vinony graph
Vinony's link graph records 11 inbound references to CDH23, and connects out to PubMed, human chromosome 10 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 10.
Vinony links it to 8 Wikipedia language editions.
Gene data
CDH23- Name
- cadherin related 23
- Type
- protein-coding
- Position
- 71,396,884–71,815,947 (+)
- Aliases
- CDHR23, PITA5, USH1D
- Ensembl
- ENSG00000107736
- RefSeq RNA
- NM_001171930.2, NM_001171931.2, NM_001171932.2, NM_001171933.1, NM_001171934.1
- RefSeq protein
- NP_001165401.1, NP_001165402.1, NP_001165403.1, NP_001165404.1, NP_001165405.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
cadherin related 23
- Symbol
- CDH23
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:71,396,884-71,815,947
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein CDH23 PDB 2KBR.png
Show 8 more facts
- HomoloGene ID
- 11142
- genetic association
- nonsyndromic deafness
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/64072
- genomic end
- 73575702
- genomic start
- 71396920
- chromosome
- human chromosome 10
- cytogenetic location
- 10q22.1
via Wikidata · CC0
~1 min read
Encyclopedic overview
6 sectionsContents
- Function
- Clinical significance
- Interactions
- References
- Further reading
- External links
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
== Function ==
Excerpted from Wikipedia’s “CDH23” article, available under the CC BY-SA 4.0 licence.