This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for FGD4. 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 = FGD4 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 FGD4, 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 |
|---|---|---|---|---|
| chr12:31,659,057–31,659,786 | 740.3 kb | Distal (>10kb) Multiome HiCAR | 737 | |
| chr12:32,106,218–32,107,295 | 292.8 kb | Distal (>10kb) Multiome | 874 | |
| chr12:32,139,428–32,140,190 | 259.7 kb | Distal (>10kb) Multiome | 274 | |
| chr12:32,394,886–32,395,372 | 4.2 kb | Proximal (<10kb) | 93 | |
| chr12:32,398,922–32,400,774 | 39 bp | At TSS Multiome | 832 | |
| chr12:32,418,951–32,419,937 | 19.8 kb | Distal (>10kb) Multiome | 172 | |
| chr12:32,493,295–32,493,645 | 8.5 kb | Proximal (<10kb) | 38 | |
| chr12:32,501,832–32,502,447 | 102.6 kb | Distal (>10kb) Multiome | 347 | |
| chr12:32,678,963–32,680,020 | 279.7 kb | Distal (>10kb) Multiome HiCAR | 960 | |
| chr12:32,754,967–32,756,883 | 355.7 kb | Distal (>10kb) Multiome | 978 |
Genomic view of the FGD4 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.