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
Enables transmembrane transporter activity. Involved in cell-cell adhesion via plasma-membrane adhesion molecules. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; equilibrioception; and mechanoreceptor differentiation. Located in cilium. Predicted to be part of catenin complex. 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 5. 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