PCDH17 Gene Summary [Human]
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PCDH17 |
| Official Name | protocadherin 17 [Source:HGNC Symbol;Acc:HGNC:14267] |
| Ensembl ID | ENSG00000118946 |
| Bio databases IDs | |
| Aliases | protocadherin 17 |
| Synonyms | C030033F14RIK, Gm78, LOC144997, PCDH68, PCH68, protocadherin 17 |
| 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 PCDH17 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- cytoplasmic domain
- Cadherin-like
- Cadherin repeat-like domain
- protein binding
- extracellular cadherin structural domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- epithelial cancer
- liver cancer
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
- schizophrenia
- angioimmunoblastic T-cell lymphoma
- renal clear cell adenocarcinoma
- renal clear cell cancer
role in cell
- phosphorylation in
- expression in
- accumulation in
- adhesion
- accumulation
- synaptic transmission
- area
- clustering
- assembly
- synaptic transmission in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- protein-cell contact site
- perisynaptic region
- cellular membrane
- presynaptic membrane
- postsynaptic membrane
- dendritic spines
- synapse
- presynaptic terminals
- dendritic shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCDH17 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of synaptic vesicle clustering
- negative regulation of synaptic transmission
- cell adhesion
- homophilic cell adhesion
- adult behavior
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- postsynaptic membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding