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
- Is predicted to enable calcium ion binding activity. Involved in cell adhesion. Acts upstream of or within several processes, including cilium assembly; detection of mechanical stimulus involved in sensory perception of sound; and hair cell differentiation. Predicted to be integral component of 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
- Comparative Information
-
- All Expression Data
- 23 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu634 (4 images)
- eu1029 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 6 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
Domain Details Per Protein
| Protein | Length | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily | Extracellular cadherin domain |
|---|---|---|---|---|---|
|
UniProtKB:Q5ICW6
|
1796 | ||||
|
UniProtKB:A0A1V0D7A1
|
1726 | ||||
|
UniProtKB:Q8AW61
|
623 | ||||
|
UniProtKB:Q7ZZ87
|
479 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
pcdh15a-201
(1)
|
6495 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