GIGYF2

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.

GRB10 Interacting GYF Protein 2

Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631).

In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:31439631).

Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:31439631).

May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).

Adult locomotory behavior Source: Ensembl
Cellular protein metabolic process Source: Ensembl
Feeding behavior Source: Ensembl
Homeostasis of number of cells within a tissue Source: Ensembl
Insulin-like growth factor receptor signaling pathway Source: ParkinsonsUK-UCL
Mitotic G1 DNA damage checkpoint signaling Source: Ensembl
mRNA destabilization Source: ParkinsonsUK-UCL
Multicellular organism growth Source: Ensembl
Musculoskeletal movement Source: Ensembl
Negative regulation of translation Source: MGI
Neuromuscular process controlling balance Source: Ensembl
Post-embryonic development Source: Ensembl
Posttranscriptional gene silencing Source: ParkinsonsUK-UCL
Spinal cord motor neuron differentiation Source: Ensembl

Cytosol; Endoplasmic reticulum; Endosome; Golgi apparatus; Cytoplasmic stress granule; Integral component of membrane; Membrane; Perikaryon; Protein-containing complex; Proximal dendrite; Vesicle

Parkinson disease 11 (PARK11):
Disease susceptibility may be associated with variants affecting the gene represented in this entry. Its association with Parkinson disease is however unclear. According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that GIGYF2 does not play a major role in Parkinson disease etiology (PubMed:19279319, PubMed:19429085, PubMed:19638301, PubMed:19482505, PubMed:20004041, PubMed:19321232, PubMed:20060621). A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.