CDH23

GENERAL INFORMATION

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Gene name

CDH23

Gene description

Cadherin-related 23

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

12
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (ovary)
GTEx:Tissue enhanced (ovary)

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues displayed moderate cytoplasmic positivity occasionally combined with nuclear staining. Strong cytoplasmic staining was observed in the gastrointestinal tract, ductus seminiferus of testis, urinary bladder and lymphoid tissues. Liver and lung were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA017232
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (ovary)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (ovary)

Organ

Expression



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)

71396934 - 71815947

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000107736 (version 78.38)

Entrez gene

64072

UniProt

Q9H251 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H251

Antibodypedia

CDH23 antibodies


PROTEIN BROWSER

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ENST00000224721
 
ENST00000299366
 
ENST00000398788
 
ENST00000398809
 
ENST00000398842
 
ENST00000442677
 
ENST00000461841
 
ENST00000466757
 
ENST00000470494
 
ENST00000616684
 
ENST00000619887
 
ENST00000622827
 
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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 » 3404 374.7 No 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 » Show » 954 104.5 No 0
CDH23-005 ENSP00000480146
ENST00000470494
Show » Show » 165 18.5 No 0
CDH23-006 ENSP00000388894
ENST00000442677
Show » Show » 803 88 No 0
CDH23-009 ENSP00000482036
ENST00000616684
Show » Show » 1426 157.1 No 0
CDH23-201 ENSP00000381768
ENST00000398788
Q9H251
Show all »
Show » Show » 1114 123.5 No 1
CDH23-202 ENSP00000381789
ENST00000398809
Show » Show » 1380 152.1 Yes 0
CDH23-203 ENSP00000381822
ENST00000398842
Show » Show » 445 49.1 No 0
CDH23-204 ENSP00000478374
ENST00000619887
Q9H251
Show all »
Show » Show » 1079 119.6 No 1
CDH23-205 ENSP00000483211
ENST00000622827
Show » Show » 3354 369.5 Yes 1