CYFIP2 Gene Summary [Human]
Predicted to enable small GTPase binding activity. Involved in activation of cysteine-type endopeptidase activity; apoptotic process; and cell-cell adhesion. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | CYFIP2 |
| Official Name | cytoplasmic FMR1 interacting protein 2 [Source:HGNC Symbol;Acc:HGNC:13760] |
| Ensembl ID | ENSG00000055163 |
| Bio databases IDs | |
| Aliases | cytoplasmic FMR1 interacting protein 2, p53 inducible protein |
| Synonyms | 1500004I01Rik, 6430511D02Rik, AU022376, cytoplasmic FMR1 interacting protein 2, DEE65, EIEE65, KIAA1168, mKIAA1168, p53-INDUCIBLE, PIR121 |
| 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 CYFIP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Cytoplasmic Fragile-X interacting family
Pathways
Biological processes and signaling networks where the CYFIP2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- endometrial adenocarcinoma
- endometrial adenocarcinoma formation
- renal clear cell adenocarcinoma
- renal clear cell cancer
- urothelial bladder carcinoma
- transitional cell bladder cancer
- thyroid carcinoma
- epithelial thyroid cancer
- early infantile epileptic encephalopathy type 65
- breast carcinoma
role in cell
- expression in
- phosphorylation in
- apoptosis
- cell death
- turnover
- turnover in
- nucleation
- morphogenesis
- extension
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
- perinuclear region
- cytosol
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYFIP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of actin filament polymerization
- positive regulation of nerve growth factor receptor signaling pathway
- activation of cysteine-type endopeptidase activity
- cell projection assembly
- cell morphogenesis
- apoptotic process
- axon guidance
- positive regulation of proteolysis
Cellular Component
Where in the cell the gene product is active
- nucleus
- SCAR complex
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
- synapse
- neuron projection
Molecular Function
What the gene product does at the molecular level
- RNA 7-methylguanosine cap binding
- protein binding
- small GTPase binding