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]
Transcription factors with Perturb-seq knockdown data for GIGYF2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = GIGYF2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of GIGYF2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr2:232,404,400–232,405,216 | 292.6 kb | Distal (>10kb) Multiome | 92 | |
| chr2:232,420,461–232,421,549 | 276.4 kb | Distal (>10kb) Multiome | 314 | |
| chr2:232,423,141–232,423,928 | 273.8 kb | Distal (>10kb) Multiome | 59 | |
| chr2:232,487,095–232,488,614 | 209.4 kb | Distal (>10kb) Multiome | 195 | |
| chr2:232,502,853–232,503,842 | 194.1 kb | Distal (>10kb) Multiome | 267 | |
| chr2:232,521,933–232,522,564 | 175.1 kb | Distal (>10kb) Multiome | 295 | |
| chr2:232,523,649–232,524,530 | 173.1 kb | Distal (>10kb) Multiome | 409 | |
| chr2:232,550,181–232,551,341 | 146.6 kb | Distal (>10kb) Multiome | 1139 | |
| chr2:232,605,843–232,606,606 | 91.2 kb | Distal (>10kb) Multiome | 604 | |
| chr2:232,633,106–232,634,804 | 63.8 kb | Distal (>10kb) Multiome | 747 | |
| chr2:232,696,754–232,698,213 | 46 bp | At TSS Multiome | 927 | |
| chr2:232,875,994–232,877,248 | 179.2 kb | Distal (>10kb) Multiome | 488 | |
| chr2:232,927,461–232,929,198 | 231.0 kb | Distal (>10kb) Multiome | 215 |
Genomic view of the GIGYF2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.