CDH23 (cadherin related 23)

2012-08-01  

Identity

HGNC
CDH23
LOCATION
10q22.1
LOCUSID
64072
ALIAS
CDHR23,PITA5,USH1D
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64072
MIM: 605516
HGNC: 13733
Ensembl: ENSG00000107736

Variants:

dbSNP: 64072
ClinVar: 64072
TCGA: ENSG00000107736
COSMIC: CDH23

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107736ENST00000224721Q9H251
ENSG00000107736ENST00000299366Q8N5B3
ENSG00000107736ENST00000398788Q9H251
ENSG00000107736ENST00000398809A0A0A0MS94
ENSG00000107736ENST00000398842G8JLI8
ENSG00000107736ENST00000442677B1AVV0
ENSG00000107736ENST00000461841Q9H251
ENSG00000107736ENST00000466757R4GN92
ENSG00000107736ENST00000470494A0A087WWD9
ENSG00000107736ENST00000616684A0A087WYR8
ENSG00000107736ENST00000619887Q9H251
ENSG00000107736ENST00000622827A0A087X097
ENSG00000107736ENST00000642965A0A2R8Y6D5
ENSG00000107736ENST00000644511A0A2R8YEM1
ENSG00000107736ENST00000646131A0A2R8Y663

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
385462812024Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.0
387200482024Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.0
385462812024Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.0
387200482024Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.0
370880792023A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.1
370880792023A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.1
347521652022Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.2
357861182022Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis.2
347521652022Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.2
357861182022Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis.2
337946072021[Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].2
342528832021Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma.3
337946072021[Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].2
342528832021Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma.3
322764362020High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.9

Citation

Dessen P

CDH23 (cadherin related 23)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52846/gene-fusions/cancer-prone-explorer/gene-explorer/