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. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; Usher syndrome type 1F; and autosomal recessive nonsyndromic deafness 23. Is expressed in several structures, including hair cell; hatching gland; polster; sensory system; and trunk. Orthologous to human PCDH15 (protocadherin related 15).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
24 figures from 13 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
17 figures from 9 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 IPR050971 Cadherin domain-containing protein
Homologous_superfamily IPR015919 Cadherin-like superfamily
Homologous_superfamily IPR030718 Extracellular cadherin domain superfamily
Domain Details Per Protein
Protein Length Cadherin conserved site Cadherin domain-containing protein Cadherin-like Cadherin-like superfamily Extracellular cadherin domain Extracellular cadherin domain superfamily
UniProtKB:Q5ICW6 1796
UniProtKB:A0A8M6Z9I8 1714
UniProtKB:A0A1V0D7A1 1726
UniProtKB:A0A8M3B5H0 1806
UniProtKB:A0A8M3AZF2 1801
UniProtKB:A0A8M6Z1M2 1713
UniProtKB:A0A8M6Z1L7 1727
UniProtKB:A0A8M6Z3R5 1725
UniProtKB:A0A8M6Z284 1726
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pcdh15a-201 (1) Ensembl 6,495 nt
mRNA pcdh15a-202 (1) Ensembl 5,391 nt
mRNA pcdh15a-203 (1) Ensembl 5,181 nt
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pcdh15a polyclonal Rabbit
  • IHC
Proteintech
2
Ab2-pcdh15a monoclonal Mouse
  • IHC
5
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations