Gene

cdh23

ID
ZDB-GENE-040513-7
Name
cadherin-related 23
Symbol
cdh23 Nomenclature History
Previous Names
  • cadherin 23 (1)
  • spu
  • sputnik
  • ush1d (1)
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. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma. Is expressed in nervous system and otic vesicle. Orthologous to human CDH23 (cadherin related 23).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
16 figures from 11 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human 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
pituitary adenoma 5 Alliance {Pituitary adenoma 5, multiple types} 617540
Usher syndrome type 1D Alliance Usher syndrome, type 1D 601067
Usher syndrome type 1D Alliance Usher syndrome, type 1D/F digenic 601067
Associated With cdh23 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR020894 Cadherin conserved site
Domain IPR002126 Cadherin-like
Family IPR030276 Cadherin-related family member 2 -like
Family IPR033030 Cadherin-23
Homologous_superfamily IPR015919 Cadherin-like superfamily
Domain Details Per Protein
Protein Length Cadherin-23 Cadherin conserved site Cadherin-like Cadherin-like superfamily Cadherin-related family member 2 -like
UniProtKB:A0A2R8QIF9 334
UniProtKB:F1R7G8 436
UniProtKB:Q6QQE1 3366
UniProtKB:F1QUS2 2883
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations