Gene
pcdh19
- ID
- ZDB-GENE-030131-4218
- Name
- protocadherin 19
- Symbol
- pcdh19 Nomenclature History
- Previous Names
-
- fc83e05
- wu:fc83e05
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Exhibits calcium ion binding activity and identical protein binding activity. Involved in brain morphogenesis; neural tube formation; and visual perception. Localizes to integral component of membrane. Is expressed in several structures, including brain; eye; immature eye; posterior neural keel; and spinal cord. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 24 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 9 | Alliance | Developmental and epileptic encephalopathy 9 | 300088 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily | Cadherin, N-terminal | Protocadherin-19 |
|---|---|---|---|---|---|---|
|
UniProtKB:B1Q3I5
|
729 | |||||
|
UniProtKB:C4P341
|
1012 | |||||
|
UniProtKB:B1Q3I6
|
800 | |||||
|
UniProtKB:C4P340
|
1083 | |||||
|
UniProtKB:A0A140LG84
|
1017 | |||||
|
UniProtKB:A0A2R8QME5
|
1094 | |||||
|
UniProtKB:F8W3X3
|
1088 | |||||
|
UniProtKB:A1L1W7
|
1078 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
pcdh19-201
(1)
|
6346 nt | |
| mRNA |
pcdh19-202
(1)
|
3054 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pcdh19 | polyclonal | Rabbit |
|
1 |
Plasmids