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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
Entrez_Gene (NCBI)CDH23  64072  cadherin-related 23
Cards
GeneCards (Weizmann)CDH23
Ensembl (Hinxton)ENSG00000107736 [Gene_View]  chr10:73156691-73492481 [Contig_View]  CDH23 [Vega]
AceView (NCBI)CDH23
Genatlas (Paris)CDH23
SOURCE (Stanford)NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836
Genomic and cartography
GoldenPath (UCSC)CDH23  -  10q22.1   chr10:73156691-73492481 +  10q22.1   [Description]    (hg19-Feb_2009)
EnsemblCDH23 - 10q22.1 [CytoView]
Mapping of homologs : NCBICDH23 [Mapview]
OMIM601067   601386   605516   
Gene and transcription
Genbank (Entrez)AB053445 AB058715 AF312024 AK074160 AK093818
RefSeq transcript (SRS)NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836
RefSeq transcript (Entrez)NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836
RefSeq genomic (SRS)AC_000142 NC_000010 NC_018921 NG_008835 NT_030059 NW_001837986 NW_004929376
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 [ SRS ] Hs.656032 [ NCBI ]
CGAP (NCI)Hs.656032
Alternative Splicing : Fast-db (Paris)GSHG0003437
Alternative Splicing GalleryENSG00000107736
Gene ExpressionCDH23 [ NCBI-GEO ]   CDH23 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H251 (SRS) Q9H251 (Uniprot)
NextProtQ9H251  [Medical]
With graphics : InterProQ9H251
Splice isoforms : SwissVarQ9H251(Swissvar)
Domaine pattern : Prosite (SRS)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (SRS)Cadherin    Cadherin-like    Cadherin_CS   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS   
Related proteins : CluSTrQ9H251
Domain families : Pfam (SRS)Cadherin (PF00028)   
Domain families : Pfam (Sanger)Cadherin (PF00028)   
Domain families : Pfam (NCBI)pfam00028   
Domain families : Smart (EMBL)CA (SM00112)  
DMDM64072
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
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
REACTOMECDH23
Protein Interaction Database64072
BioGRIDCDH23
InParanoidQ9H251
Interologous Interaction database Q9H251
IntegromeDBCDH23
Gene fusion - rearrangments
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CDH23
SNP (GeneSNP Utah)CDH23
SNP : HGBaseCDH23
Genetic variants : HAPMAPCDH23
Somatic Mutations in Cancer : COSMICCDH23 
CONAN: Copy Number AnalysisCDH23 
Mutations and Diseases : HGMDCDH23
OMIM601067    601386    605516   
GENETests601067    601386    605516   
Disease Genetic AssociationCDH23
Huge Navigator CDH23 [HugePedia]  CDH23 [HugeCancerGEM]
Genomic VariantsCDH23  CDH23 [DGVbeta]
ClinVarCDH23
snp3D : Map Gene to Disease64072
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
Ontology : AmiGOcalcium ion binding  protein binding  plasma membrane  calcium ion transport  homophilic cell adhesion  visual perception  sensory perception of sound  membrane  integral to 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 to membrane  calcium-dependent cell-cell adhesion  stereocilium  photoreceptor cell maintenance  response to stimulus  sensory perception of light stimulus  equilibrioception  cytosolic calcium ion homeostasis  
Other databases
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
PubGeneCDH23
iHOPCDH23
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Dec 3 19:45:58 CET 2013
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