Gene

pcdh15a

ID

ZDB-GENE-030616-3

Name

protocadherin-related 15a

Symbol

pcdh15a Nomenclature History

Previous Names

orb
orbiter
si:bac7cse.1
si:xx-bac7cse.1

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to have calcium ion binding activity. Involved in several processes, including cilium assembly; detection of mechanical stimulus involved in sensory perception of sound; and hair cell differentiation. Predicted to localize to integral component of plasma membrane. Is expressed in several structures, including hair cell; hatching gland; polster; sensory system; and trunk. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; Usher syndrome type 1F; and autosomal recessive nonsyndromic deafness 23. Orthologous to human PCDH15 (protocadherin related 15).

Genome Resources

Note

None

Expression

All Expression Data

22 figures from 11 publications

Cross-Species Comparison

High Throughput Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 6 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pcdh15a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 23	Alliance	Deafness, autosomal recessive 23	609533
Usher syndrome type 1D	Alliance	Usher syndrome, type 1D/F digenic	601067
Usher syndrome type 1F	Alliance	Usher syndrome, type 1F	602083

Associated With pcdh15a 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
Domain	IPR041149	Extracellular cadherin domain
Family	IPR030718	Protocadherin-15
Homologous_superfamily	IPR015919	Cadherin-like superfamily