ZFIN ID: ZDB-GENE-040513-7
Gene Name: cadherin-related 23
Gene Symbol: cdh23    Nomenclature History

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Previous Names: cadherin 23 (1), spu, sputnik, ush1d (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Exhibits transmembrane transporter activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; equilibrioception; and mechanoreceptor differentiation. Localizes to cilium. Is expressed in nervous system and otic vesicle. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma. Orthologous to human CDH23 (cadherin related 23).
Genome Resources: Alliance (1),  Gene:407978 (1),  Ensembl(GRCz11):ENSDARG00000007561 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
cdh23_unspecified Unspecified Unknown Unknown
la012407Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • nl9 Point Mutation Acceptor Splice Site Unknown ENU
    ru609 Unknown Unknown Unknown
    sa6329 Point Mutation Unknown Premature Stop ENU
    sa28193 Point Mutation Unknown Splice Site ENU
    sa28194 Point Mutation Unknown Splice Site ENU
    sa31961 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35577 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35578 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42289 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45500 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • t23576 Point Mutation Unknown Premature Stop
  • European Zebrafish Resource Center (EZRC) (order this)
  • tc242b Point Mutation Unknown Missense
  • European Zebrafish Resource Center (EZRC) (order this)
  • tc317e Insertion Unknown Cryptic Acceptor Splice Site, Frameshift, Premature Stop
  • European Zebrafish Resource Center (EZRC) (order this)
  • te370e Insertion Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tj264 Point Mutation Unknown Unknown
  • European Zebrafish Resource Center (EZRC) (order this)
  • tz300 Point Mutation Unknown Missense
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-cdh23
    1
    CRISPR2-cdh23
    2
    CRISPR3-cdh23
    2
    MO1-cdh23 N/A 5
    DISEASE ASSOCIATED WITH cdh23 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal recessive nonsyndromic deafness 12 Alliance Deafness, autosomal recessive 12 601386
    Usher syndrome type 1D Alliance Usher syndrome, type 1D 601067
    Usher syndrome, type 1D/F digenic 601067
    {Pituitary adenoma 5, multiple types} 617540
    DISEASE ASSOCIATED WITH cdh23 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process auditory receptor cell development (more)
    Cellular Component cilium (more)
    Molecular Function transmembrane transporter activity (more)
    GO Terms (all 24)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA cdh23-202 (1)    Ensembl 1704
    Browsers: NCBI
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cdh23 No data available
    MARKER RELATIONSHIPS
    cdh23 Contained in: [BAC] CH211-180G15 (1), CH211-236A3 (1), DKEY-223L5 (1) (order this), DKEY-261I20 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_214809 (1) 11045 nt
    Genomic GenBank:BX510660 (1) 172425 nt
    Select Tool
    Polypeptide UniProtKB:Q6QQE1 (1) 3366 aa
    Sequence Information (all 19)
    ORTHOLOGY for cdh23 ( Chr: 13 )
    CITATIONS (61)