This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for IQSEC2. 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 = IQSEC2 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 IQSEC2, 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 |
|---|---|---|---|---|
| chrX:52,995,188–52,996,036 | 325.7 kb | Distal (>10kb) Multiome | 504 | |
| chrX:53,048,205–53,048,827 | 272.8 kb | Distal (>10kb) Multiome | 184 | |
| chrX:53,081,783–53,082,862 | 239.1 kb | Distal (>10kb) Multiome | 557 | |
| chrX:53,088,446–53,088,904 | 232.6 kb | Distal (>10kb) Multiome | 204 | |
| chrX:53,093,602–53,094,629 | 227.3 kb | Distal (>10kb) Multiome | 585 | |
| chrX:53,224,805–53,225,756 | 96.0 kb | Distal (>10kb) Multiome | 825 | |
| chrX:53,281,146–53,281,791 | at TSS | At TSS | 283 | |
| chrX:53,284,706–53,284,952 | 3.1 kb | Proximal (<10kb) | 141 | |
| chrX:53,317,554–53,317,780 | 3.6 kb | Proximal (<10kb) | 168 | |
| chrX:53,421,898–53,423,292 | 101.4 kb | Distal (>10kb) Multiome HiCAR | 745 | |
| chrX:53,441,598–53,442,101 | 120.5 kb | Distal (>10kb) Multiome HiCAR | 254 |
Genomic view of the IQSEC2 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.