ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables cadherin binding activity; calcium ion binding activity; and identical protein binding activity. Involved in cell-cell adhesion and neural tube formation. Acts upstream of or within several processes, including brain morphogenesis; excitatory postsynaptic potential; and regulation of neuronal action potential. Located in plasma 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 developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 25 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
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 | Additional Resources | Length | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily | Cadherin, N-terminal | Protocadherin/Cadherin-related Cell Adhesion |
|---|---|---|---|---|---|---|---|
| UniProtKB:A1L1W7 | InterPro | 1078 | |||||
| UniProtKB:A0A8M3AP82 | InterPro | 1023 | |||||
| UniProtKB:A0A2R8QME5 | InterPro | 1094 | |||||
| UniProtKB:F8W3X3 | InterPro PDB | 1088 | |||||
| UniProtKB:A0A8M1NJM2 | InterPro | 1088 | |||||
| UniProtKB:A0A9K3Y6L2 | InterPro | 1083 | |||||
| UniProtKB:A0A9U5BCE3 | InterPro | 1088 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pcdh19-201
(1)
|
Ensembl | 6,346 nt | ||
| mRNA |
pcdh19-202
(1)
|
Ensembl | 3,054 nt | ||
| mRNA |
pcdh19-203
(1)
|
Ensembl | 7,503 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pcdh19 | polyclonal | Rabbit |
|
1 |
Plasmids
- Genome Browsers