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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Human Disease	Fish	Conditions	Citations
Usher syndrome type 1F	pcdh15b^uot14/uot14	standard conditions	Miles et al., 2021
Usher syndrome type 1F	pcdh15b^uot15/uot15	standard conditions	Miles et al., 2021

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 InterPro	1951
UniProtKB:Q5ICW5 InterPro	1907
UniProtKB:A0A8M3B781 InterPro	1959
UniProtKB:A0A8M3AY44 InterPro	1727
UniProtKB:A0A8M3AY16 InterPro	1964

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pcdh15b-201 (1) Ensembl	Ensembl	5,636 nt	Select Tool
mRNA	pcdh15b-202 (1) Ensembl	Ensembl	324 nt	Select Tool
mRNA	si:ch211-253p2.2-201 (1) Ensembl	Ensembl	2,794 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-pcdh15		pcdh15b			IHC	NSJ Bioreagents	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations