GIGYF2 Gene Summary [Human]
This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | GIGYF2 |
| Official Name | GRB10 interacting GYF protein 2 [Source:HGNC Symbol;Acc:HGNC:11960] |
| Ensembl ID | ENSG00000204120 |
| Bio databases IDs | |
| Aliases | GRB10 interacting GYF protein 2, GYF domain containing 2 |
| Synonyms | 2610016F01Rik, A830080H02Rik, GRB10 interacting GYF protein 2, GYF2, mKIAA0642, PARK11, PERQ2, PERQ3, TNRC15 |
| 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 GIGYF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GYF
- 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
- major depression
- schizophrenia
- gastroesophageal reflux
- head and neck neoplasia
- diminished ovarian reserve
- anxiety disorder
- coronary artery disease
- myocardial infarction
- leber congenital amaurosis type 16
- non-insulin-dependent diabetes mellitus
regulates
- IFN beta
role in cell
- production in
- differentiation
- replication in
- translation 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.
- Cytoplasm
- cellular membrane
- endosomes
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- dendrite initial segments
- stress granule
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GIGYF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- mRNA destabilization
- negative regulation of translational initiation
- mitotic cell cycle G1/S transition DNA damage checkpoint
- post-embryonic development
- insulin-like growth factor receptor signaling pathway
- spinal cord motor neuron differentiation
- negative regulation of type I interferon-mediated signaling pathway
- feeding behavior
- adult locomotory behavior
- musculoskeletal movement
- rescue of stalled ribosome
- homeostasis of number of cells within a tissue
- posttranscriptional gene silencing
- negative regulation of translation
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- cytoplasmic stress granule
- endosome
- membrane
- vesicle
- cytosol
- macromolecular complex
- Golgi apparatus
- endoplasmic reticulum
- perikaryon
Molecular Function
What the gene product does at the molecular level
- proline-rich region binding
- protein binding
- RNA binding
- cadherin binding
- binding, bridging