PHACTR2 Gene Summary [Human]
Predicted to enable actin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson's disease and multiple sclerosis. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PHACTR2 |
| Official Name | phosphatase and actin regulator 2 [Source:HGNC Symbol;Acc:HGNC:20956] |
| Ensembl ID | ENSG00000112419 |
| Bio databases IDs | |
| Aliases | phosphatase and actin regulator 2 |
| Synonyms | AV158170, C6orf56, LOC100039475, LOC100045210, phosphatase and actin regulator 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 PHACTR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RPEL repeat
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- angina pectoris
- hypospadia
- lung carcinoma
- lung carcinoma process
- idiopathic scoliosis
- inflammatory bowel disease
- COVID-19
- multiple sclerosis
- adenomyosis
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
- alpha granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHACTR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein phosphatase inhibitor activity
- protein binding
- actin binding