Pcdh19 Gene Summary [Mouse]
Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; embryo mesenchyme; future brain; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pcdh19 |
| Official Name | protocadherin 19 [Source:MGI Symbol;Acc:MGI:2685563] |
| Ensembl ID | ENSMUSG00000051323 |
| Bio databases IDs | |
| Aliases | protocadherin 19 |
| Synonyms | B530002L05Rik, DEE9, EFMR, EIEE9, Gm717, LOC279653, mKIAA1313, protocadherin 19, RGD1565392 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pcdh19 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cadherin-like
- Cadherin repeat-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early infantile epileptic encephalopathy type 9
- developmental delay with seizures
- hereditary disorder
- PCDH19-related epilepsy
- mental retardation
- epilepsy
- X-linked complex neurodevelopmental disorder
- benign rolandic epilepsy
regulates
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cellular membrane
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pcdh19 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell adhesion
- homophilic cell adhesion
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calcium ion binding