Tbio CDH23 Cadherin-23

Protein Summary

Description

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. 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]

Uniprot Accession IDs

• Q9H251
• C4IXS9
• F6U049
• Q5QGS1
• Q5QGS2
• Q5QGS5
• Q5QGS6
• Q5XKN2
• Q6UWW1
• Q96JL3
• Q9H4K9

Gene Name

• CDH23

Ensembl ID

• ENST00000224721
• ENSP00000224721
• ENSG00000107736
• ENST00000398788
• ENSP00000381768
• ENST00000461841
• ENSP00000473454
• ENST00000619887
• ENSP00000478374

Symbol

• KIAA1774
• KIAA1812
• PITA5
• USH1D
• CDHR23

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
trait	0.86
transcription factor	0.76
cellular component	0.69
phenotype	0.67
disease	0.66

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 213.03   (req: < 5)

Gene RIFs: 56   (req: <= 3)

Antibodies: 250   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 213.03   (req: >= 5)

Gene RIFs: 56   (req: > 3)

Antibodies: 250   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0