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
- All Expression Data
- 24 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu634 (4 images)
- eu1029 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
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 |
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
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-pcdh15a | polyclonal | Rabbit |
|
Proteintech
|
2 | ||
Ab2-pcdh15a | monoclonal | Mouse |
|
5 |
Plasmids
No data available