Gene

pcdh15b

ID
ZDB-GENE-050214-1
Name
protocadherin-related 15b
Symbol
pcdh15b Nomenclature History
Previous Names
  • im:7151077
  • si:ch211-253p2.2
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity. Involved in detection of light stimulus involved in visual perception and eye development. 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 brain; epiphysis; eye; and retinal photoreceptor layer. Orthologous to human PCDH15 (protocadherin related 15).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from Miles et al., 2021
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pcdh15b 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 pcdh15b Via Experimental Models
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 IPR039808 Cadherin
Homologous_superfamily IPR015919 Cadherin-like superfamily
Homologous_superfamily IPR030718 Extracellular cadherin domain superfamily
Domain Details Per Protein
Protein Length Cadherin Cadherin conserved site Cadherin-like Cadherin-like superfamily Extracellular cadherin domain Extracellular cadherin domain superfamily
UniProtKB:A0A8M3B4E7 1951
UniProtKB:Q5ICW5 1907
UniProtKB:A0A8M3B781 1959
UniProtKB:A0A8M3AY44 1727
UniProtKB:A0A8M3AY16 1964
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pcdh15
  • IHC
NSJ Bioreagents
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations