PACS2 Gene Summary [Human]
Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PACS2 |
| Official Name | phosphofurin acidic cluster sorting protein 2 [Source:HGNC Symbol;Acc:HGNC:23794] |
| Ensembl ID | ENSG00000179364 |
| Bio databases IDs | |
| Aliases | phosphofurin acidic cluster sorting protein 2 |
| Synonyms | 6720425G15RIK, DEE66, E230011J22, EIEE66, KIAA0602, mKIAA0602, PACS1L, phosphofurin acidic cluster sorting protein 2 |
| 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 PACS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PACS-1 cytosolic sorting protein
- protein binding
- cargo binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- hereditary disorder
- mental retardation
- developmental and epileptic encephalopathy type 66
- developmental epileptic encephalopathy
- X-linked myoclonic epilepsy with generalized spasticity and intellectual disability
role in cell
- expression in
- apoptosis
- cell death
- permeabilization
- survival
- cell survival
- assembly
- fragmentation
- uncoupling
- ABT-737 resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- Mitochondria
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PACS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagic vacuole assembly
- protein localization to pre-autophagosomal structure
- apoptotic process
- endoplasmic reticulum calcium ion homeostasis
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- ion channel binding