GIGYF2 Gene - GRB10 Interacting GYF Protein 2
Genetic and Functional Insights into GIGYF2
Gene Information Card
| Symbol | GIGYF2 |
|---|---|
| Full Name | GRB10 Interacting GYF Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 26058 ncbi.nlm.nih.gov/gene/26058 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q6Y7W6 |
| OMIM ID | 612003 |
| HGNC ID | 11961 |
| Aliases | TNRC15, PARK11, GYF2, PERQ2, KIAA0642 |
Description
GIGYF2 (GRB10 Interacting GYF Protein 2) is a protein-coding gene located on chromosome 2q37.1. It encodes a protein that contains a GYF domain, which mediates interactions with proline-rich sequences. GIGYF2 is involved in insulin-like growth factor (IGF) and insulin receptor signaling pathways by binding to GRB10. The gene has been implicated in several disorders, including Parkinson disease (PARK11), autism spectrum disorder, and type 2 diabetes. GIGYF2 also plays a role in mRNA processing and translational regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease (PARK11) | Missense and nonsense mutations in GIGYF2 are associated with autosomal dominant Parkinson disease; the mechanism may involve altered protein interactions and impaired cellular signaling. | OMIM 612003; multiple studies report mutations in familial Parkinson disease. |
| Autism spectrum disorder | Rare copy number variants and missense variants in GIGYF2 have been identified in individuals with autism; potential mechanism involves dysregulation of synaptic protein synthesis. | ClinVar; published case-control studies. |
| Type 2 diabetes | GIGYF2 interacts with GRB10, a regulator of insulin signaling; variants may influence insulin resistance and glucose metabolism. | NCBI Gene; functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Adrenal gland | 10.5 | Medium |
| Thyroid | 9.3 | Low |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.1 | Neuronal model |
| HEK293 (embryonic kidney) | 11.3 | Common expression system |
| HeLa (cervical carcinoma) | 9.8 | Epithelial model |
| HepG2 (hepatocellular carcinoma) | 7.2 | Liver model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1975C>T (p.Arg659*) | Nonsense | <0.1% | Loss of function; associated with Parkinson disease |
| c.2320G>A (p.Asp774Asn) | Missense | <0.1% | Unknown; reported in autism |
| c.2899C>T (p.Arg967Trp) | Missense | <0.1% | Unknown; reported in Parkinson disease |
| c.3445C>T (p.Arg1149Cys) | Missense | <0.1% | Unknown; reported in autism |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg659*) lead to premature termination and likely haploinsufficiency, contributing to Parkinson disease.
Gain of Function (GOF)
No clear gain-of-function mutations have been characterized for GIGYF2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting GRB10 binding or altering protein complex formation, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Insulin/IGF signaling pathway (via GRB10 interaction)
• mRNA surveillance pathway
• Nonsense-mediated decay (NMD)
Protein Summary
The GIGYF2 protein (UniProt Q6Y7W6) is a 1502-amino acid protein containing a GYF domain at the N-terminus, which binds to proline-rich sequences in partner proteins such as GRB10. It localizes to the cytoplasm and nucleus and is involved in regulating translation and mRNA stability. GIGYF2 interacts with the RNA exosome complex and modulates the expression of specific mRNAs. Its role in insulin/IGF signaling is mediated through GRB10 binding, affecting downstream pathways relevant to growth and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIGYF2 Knockout HEK293 Cell Line | EDJ-KQ8377 | Human | 26058 | Details Get a Quote |
| GIGYF2 Knockout A-549 Cell Line | EDJ-KQ33087 | Human | 26058 | Details Get a Quote |
| GIGYF2 Knockout HCT 116 Cell Line | EDJ-KQ34423 | Human | 26058 | Details Get a Quote |
| GIGYF2 Knockout HeLa Cell Line | EDJ-KQ34424 | Human | 26058 | Details Get a Quote |
