Homo sapiens Gene: CDH23
Summary
InnateDB Gene IDBG-77620.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CDH23
Gene Name cadherin-related 23
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000107736
Encoded Proteins
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
cadherin-related 23
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:71396934-71815947
Strand Forward strand
Band q22.1
Transcripts
ENST00000224721 ENSP00000224721
ENST00000299366 ENSP00000299366
ENST00000398842 ENSP00000381822
ENST00000398809 ENSP00000381789
ENST00000398792
ENST00000398788 ENSP00000381768
ENST00000442677 ENSP00000388894
ENST00000461841 ENSP00000473454
ENST00000466757 ENSP00000473539
ENST00000470494 ENSP00000480146
ENST00000475158
ENST00000616684 ENSP00000482036
ENST00000619887 ENSP00000478374
ENST00000622827 ENSP00000483211
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0006816 calcium ion transport
GO:0007156 homophilic cell adhesion
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0016339 calcium-dependent cell-cell adhesion
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0051480 cytosolic calcium ion homeostasis
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032420 stereocilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.656032
RefSeq NM_001171930 NM_001171931 NM_001171933 NM_001171934 NM_022124 NM_052836 XM_003403623 XM_005275689 XM_006717941 XM_006717942
HUGO
OMIM
CCDS CCDS53540 CCDS73146
HPRD 05699
IMGT
EMBL
GenPept
RNA Seq Atlas