Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDH23 (cadherin-related 23)

Identity

Other namesCDHR23
USH1D
HGNC (Hugo) CDH23
LocusID (NCBI) 64072
Location 10q22.1
Location_base_pair Starts at 73156691 and ends at 73492481 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)CDH23   13733
Cards
Entrez_Gene (NCBI)CDH23  64072  cadherin-related 23
GeneCards (Weizmann)CDH23
Ensembl hg19 (Hinxton)ENSG00000107736 [Gene_View]  chr10:73156691-73492481 [Contig_View]  CDH23 [Vega]
Ensembl hg38 (Hinxton)ENSG00000107736 [Gene_View]  chr10:73156691-73492481 [Contig_View]  CDH23 [Vega]
ICGC DataPortalENSG00000107736
cBioPortalCDH23
AceView (NCBI)CDH23
Genatlas (Paris)CDH23
WikiGenes64072
SOURCE (Princeton)CDH23
Genomic and cartography
GoldenPath hg19 (UCSC)CDH23  -     chr10:73156691-73492481 +  10q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CDH23  -     10q22.1   [Description]    (hg38-Dec_2013)
EnsemblCDH23 - 10q22.1 [CytoView hg19]  CDH23 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBICDH23 [Mapview hg19]  CDH23 [Mapview hg38]
OMIM601067   601386   605516   
Gene and transcription
Genbank (Entrez)AB053445 AB058715 AF312024 AK074160 AK093818
RefSeq transcript (Entrez)NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_008835 NT_030059 NW_001837986 NW_004929376
Consensus coding sequences : CCDS (NCBI)CDH23
Cluster EST : UnigeneHs.656032 [ NCBI ]
CGAP (NCI)Hs.656032
Alternative Splicing : Fast-db (Paris)GSHG0003437
Alternative Splicing GalleryENSG00000107736
Gene ExpressionCDH23 [ NCBI-GEO ]     CDH23 [ SEEK ]   CDH23 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H251 (Uniprot)
NextProtQ9H251  [Medical]
With graphics : InterProQ9H251
Splice isoforms : SwissVarQ9H251 (Swissvar)
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS   
Related proteins : CluSTrQ9H251
Domain families : Pfam (Sanger)Cadherin (PF00028)   
Domain families : Pfam (NCBI)pfam00028   
Domain families : Smart (EMBL)CA (SM00112)  
DMDM Disease mutations64072
Blocks (Seattle)Q9H251
PDB (SRS)2KBR    2KBS    2LSR   
PDB (PDBSum)2KBR    2KBS    2LSR   
PDB (IMB)2KBR    2KBS    2LSR   
PDB (RSDB)2KBR    2KBS    2LSR   
Human Protein AtlasENSG00000107736
Peptide AtlasQ9H251
HPRD05699
IPIIPI01012113   IPI00216561   IPI00216562   IPI00827563   IPI00872875   IPI00296026   IPI00216560   IPI01019019   IPI00942477   IPI00419673   IPI00177323   IPI01018633   IPI01018993   IPI00847368   IPI00940291   IPI00955424   IPI00514211   IPI00514764   IPI00386849   
Protein Interaction databases
DIP (DOE-UCLA)Q9H251
IntAct (EBI)Q9H251
FunCoupENSG00000107736
BioGRIDCDH23
IntegromeDBCDH23
STRING (EMBL)CDH23
Ontologies - Pathways
QuickGOQ9H251
Ontology : AmiGOcalcium ion binding  protein binding  plasma membrane  calcium ion transport  homophilic cell adhesion  visual perception  sensory perception of sound  membrane  integral component of membrane  calcium-dependent cell-cell adhesion  stereocilium  photoreceptor cell maintenance  response to stimulus  sensory perception of light stimulus  equilibrioception  cytosolic calcium ion homeostasis  
Ontology : EGO-EBIcalcium ion binding  protein binding  plasma membrane  calcium ion transport  homophilic cell adhesion  visual perception  sensory perception of sound  membrane  integral component of membrane  calcium-dependent cell-cell adhesion  stereocilium  photoreceptor cell maintenance  response to stimulus  sensory perception of light stimulus  equilibrioception  cytosolic calcium ion homeostasis  
Protein Interaction DatabaseCDH23
DoCM (Curated mutations)CDH23
Wikipedia pathwaysCDH23
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCDH23 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDH23
dbVarCDH23
ClinVarCDH23
1000_GenomesCDH23 
Exome Variant ServerCDH23
SNP (GeneSNP Utah)CDH23
SNP : HGBaseCDH23
Genetic variants : HAPMAPCDH23
Genomic VariantsCDH23  CDH23 [DGVbeta]
Mutations
ICGC Data PortalENSG00000107736 
Somatic Mutations in Cancer : COSMICCDH23 
CONAN: Copy Number AnalysisCDH23 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Retinal and hearing impairment genetic mutation database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:73156691-73492481
Mutations and Diseases : HGMDCDH23
OMIM601067    601386    605516   
MedgenCDH23
NextProtQ9H251 [Medical]
GENETestsCDH23
Disease Genetic AssociationCDH23
Huge Navigator CDH23 [HugePedia]  CDH23 [HugeCancerGEM]
snp3D : Map Gene to Disease64072
DGIdb (Drug Gene Interaction db)CDH23
General knowledge
Homologs : HomoloGeneCDH23
Homology/Alignments : Family Browser (UCSC)CDH23
Phylogenetic Trees/Animal Genes : TreeFamCDH23
Chemical/Protein Interactions : CTD64072
Chemical/Pharm GKB GenePA26296
Clinical trialCDH23
Cancer Resource (Charite)ENSG00000107736
Other databases
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
CoreMineCDH23
GoPubMedCDH23
iHOPCDH23
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:45:03 CET 2014
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