The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
Transcription factors with Perturb-seq knockdown data for PLEKHG2. 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 = PLEKHG2 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 PLEKHG2, 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 |
|---|---|---|---|---|
| chr19:39,125,485–39,126,290 | 286.9 kb | Distal (>10kb) Multiome | 866 | |
| chr19:39,307,021–39,308,955 | 105.2 kb | Distal (>10kb) Multiome | 358 | |
| chr19:39,320,514–39,321,175 | 91.8 kb | Distal (>10kb) Multiome | 364 | |
| chr19:39,341,491–39,342,890 | 70.4 kb | Distal (>10kb) Multiome | 934 | |
| chr19:39,390,544–39,391,970 | 21.5 kb | Distal (>10kb) Multiome | 1003 | |
| chr19:39,397,520–39,398,126 | 14.9 kb | Distal (>10kb) Multiome | 711 | |
| chr19:39,402,336–39,404,125 | 8.8 kb | Proximal (<10kb) Multiome | 826 | |
| chr19:39,406,270–39,408,010 | 5.9 kb | Proximal (<10kb) Multiome | 804 | |
| chr19:39,409,417–39,410,433 | 3.0 kb | Proximal (<10kb) Multiome | 884 | |
| chr19:39,411,293–39,414,170 | 248 bp | At TSS Multiome | 1109 | |
| chr19:39,428,269–39,428,993 | 16.0 kb | Distal (>10kb) Multiome | 479 | |
| chr19:39,435,526–39,436,258 | 23.4 kb | Distal (>10kb) Multiome | 930 | |
| chr19:39,445,191–39,446,019 | 32.9 kb | Distal (>10kb) Multiome | 927 | |
| chr19:39,480,241–39,481,284 | 68.1 kb | Distal (>10kb) Multiome | 880 | |
| chr19:39,497,736–39,498,430 | 85.3 kb | Distal (>10kb) Multiome | 558 | |
| chr19:39,502,647–39,503,265 | 90.3 kb | Distal (>10kb) Multiome | 835 | |
| chr19:39,506,926–39,507,691 | 94.6 kb | Distal (>10kb) Multiome | 748 | |
| chr19:39,514,761–39,515,964 | 102.6 kb | Distal (>10kb) Multiome | 370 | |
| chr19:39,532,304–39,533,247 | 120.2 kb | Distal (>10kb) Multiome | 760 | |
| chr19:39,539,469–39,540,414 | 127.5 kb | Distal (>10kb) Multiome | 772 |
Genomic view of the PLEKHG2 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.