PCDH19 Gene Summary [Human]
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | PCDH19 |
| Official Name | protocadherin 19 [Source:HGNC Symbol;Acc:HGNC:14270] |
| Ensembl ID | ENSG00000165194 |
| Bio databases IDs | |
| Aliases | protocadherin 19 |
| Synonyms | B530002L05Rik, DEE9, EFMR, EIEE9, Gm717, LOC279653, mKIAA1313, protocadherin 19, RGD1565392 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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