The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for PLEKHG4. 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 = PLEKHG4 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 PLEKHG4, 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 |
|---|---|---|---|---|
| chr16:67,000,412–67,001,423 | 278.5 kb | Distal (>10kb) Multiome | 270 | |
| chr16:67,013,778–67,014,584 | 265.4 kb | Distal (>10kb) Multiome | 594 | |
| chr16:67,017,916–67,018,379 | 261.4 kb | Distal (>10kb) Multiome | 530 | |
| chr16:67,028,567–67,029,938 | 250.5 kb | Distal (>10kb) Multiome | 1003 | |
| chr16:67,109,102–67,110,434 | 169.7 kb | Distal (>10kb) Multiome | 895 | |
| chr16:67,149,282–67,151,406 | 128.8 kb | Distal (>10kb) Multiome | 693 | |
| chr16:67,154,687–67,155,820 | 124.0 kb | Distal (>10kb) Multiome | 593 | |
| chr16:67,160,628–67,161,206 | 118.5 kb | Distal (>10kb) Multiome | 524 | |
| chr16:67,162,969–67,163,815 | 116.1 kb | Distal (>10kb) Multiome | 238 | |
| chr16:67,169,105–67,171,287 | 109.9 kb | Distal (>10kb) Multiome | 813 | |
| chr16:67,173,849–67,174,861 | 105.2 kb | Distal (>10kb) Multiome | 809 | |
| chr16:67,177,863–67,178,664 | 101.3 kb | Distal (>10kb) Multiome | 544 | |
| chr16:67,183,333–67,184,856 | 95.7 kb | Distal (>10kb) Multiome | 886 | |
| chr16:67,185,256–67,185,693 | 94.0 kb | Distal (>10kb) Multiome | 740 | |
| chr16:67,191,949–67,192,449 | 87.4 kb | Distal (>10kb) Multiome | 781 | |
| chr16:67,198,940–67,200,211 | 79.8 kb | Distal (>10kb) Multiome | 325 | |
| chr16:67,226,487–67,227,575 | 52.5 kb | Distal (>10kb) Multiome | 909 | |
| chr16:67,236,439–67,237,267 | 42.7 kb | Distal (>10kb) Multiome | 195 | |
| chr16:67,245,855–67,247,890 | 32.0 kb | Distal (>10kb) Multiome | 1077 | |
| chr16:67,248,206–67,249,338 | 30.4 kb | Distal (>10kb) Multiome | 467 | |
| chr16:67,262,177–67,262,869 | 17.0 kb | Distal (>10kb) Multiome | 24 | |
| chr16:67,278,724–67,279,792 | 127 bp | At TSS Multiome | 869 | |
| chr16:67,284,881–67,285,219 | 5.3 kb | Proximal (<10kb) | 236 | |
| chr16:67,326,413–67,327,343 | 47.3 kb | Distal (>10kb) Multiome | 585 | |
| chr16:67,393,199–67,393,789 | 114.0 kb | Distal (>10kb) Multiome HiCAR | 377 | |
| chr16:67,399,230–67,399,872 | 120.0 kb | Distal (>10kb) Multiome HiCAR | 211 | |
| chr16:67,415,996–67,416,812 | 136.9 kb | Distal (>10kb) Multiome HiCAR | 687 | |
| chr16:67,428,012–67,428,783 | 148.8 kb | Distal (>10kb) Multiome | 382 | |
| chr16:67,430,407–67,432,610 | 151.6 kb | Distal (>10kb) Multiome | 790 | |
| chr16:67,480,508–67,481,841 | 201.7 kb | Distal (>10kb) Multiome | 1002 | |
| chr16:67,521,086–67,521,812 | 241.9 kb | Distal (>10kb) Multiome | 775 | |
| chr16:67,528,470–67,529,464 | 249.3 kb | Distal (>10kb) Multiome | 641 | |
| chr16:67,537,215–67,538,620 | 258.5 kb | Distal (>10kb) Multiome | 560 | |
| chr16:67,561,597–67,563,672 | 282.8 kb | Distal (>10kb) Multiome | 1044 |
Genomic view of the PLEKHG4 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.