CDH23

GENE INFORMATION

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Gene name

CDH23 (HGNC Symbol)

Synonyms

CDHR23, DFNB12, USH1D

Description

Cadherin-related 23 (HGNC Symbol)

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. 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]

Chromosome

10

Cytoband

q22.1

Chromosome location (bp)

73156691 - 73575702

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000107736 (version 75.37)

Entrez gene

64072

UniProt

Q9H251 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H251

Antibodypedia

CDH23 antibodies
 

PROTEIN VIEW

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CDH23-001
 
CDH23-002
 
CDH23-003
 
CDH23-004
 
CDH23-006
 
CDH23-201
 
CDH23-202
 
CDH23-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CDH23-001 ENSP00000224721
ENST00000224721
Show » Show » 3359 369.9 Yes 1
CDH23-002 ENSP00000473454
ENST00000461841
R4GN22
Show all »
Show » Show » 575 63.4 No 0
CDH23-003 ENSP00000299366
ENST00000299366
G3XCN8
Show all »
Show » Show » 1106 121.4 No 0
CDH23-004 ENSP00000473539
ENST00000466757
Show » 954 104.5 No 0
CDH23-006 ENSP00000388894
ENST00000442677
Show » 803 88 No 0
CDH23-201 ENSP00000381768
ENST00000398788
Q9H251
Show all »
Show » Show » 1114 123.5 No 1
CDH23-202 ENSP00000381789
ENST00000398809
Q9H251
Show all »
Show » Show » 530 58.6 Yes 0
CDH23-203 ENSP00000381822
ENST00000398842
G8JLI8
Show all »
Show » Show » 530 58.6 Yes 0