This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Transcription factors with Perturb-seq knockdown data for TBC1D24. 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 = TBC1D24 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 TBC1D24, 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 |
|---|---|---|---|---|
| chr16:2,178,140–2,179,722 | 296.3 kb | Distal (>10kb) Multiome | 318 | |
| chr16:2,205,129–2,206,297 | 269.6 kb | Distal (>10kb) Multiome | 887 | |
| chr16:2,214,212–2,215,803 | 260.1 kb | Distal (>10kb) Multiome | 953 | |
| chr16:2,223,095–2,224,285 | 251.6 kb | Distal (>10kb) Multiome | 918 | |
| chr16:2,251,044–2,252,460 | 223.4 kb | Distal (>10kb) Multiome | 996 | |
| chr16:2,267,625–2,269,111 | 206.9 kb | Distal (>10kb) Multiome | 1044 | |
| chr16:2,339,631–2,342,283 | 134.3 kb | Distal (>10kb) Multiome | 1129 | |
| chr16:2,428,282–2,429,948 | 45.8 kb | Distal (>10kb) Multiome | 827 | |
| chr16:2,459,524–2,460,612 | 15.1 kb | Distal (>10kb) Multiome | 670 | |
| chr16:2,467,565–2,468,324 | 7.3 kb | Proximal (<10kb) Multiome | 450 | |
| chr16:2,468,439–2,469,135 | 6.0 kb | Proximal (<10kb) | 438 | |
| chr16:2,470,913–2,472,223 | 3.8 kb | Proximal (<10kb) Multiome | 427 | |
| chr16:2,473,455–2,476,127 | 49 bp | At TSS Multiome | 719 | |
| chr16:2,501,124–2,501,877 | 26.3 kb | Distal (>10kb) Multiome | 471 | |
| chr16:2,513,006–2,514,809 | 38.7 kb | Distal (>10kb) Multiome | 818 | |
| chr16:2,520,064–2,520,618 | 45.2 kb | Distal (>10kb) Multiome | 624 | |
| chr16:2,531,456–2,533,080 | 57.0 kb | Distal (>10kb) Multiome | 883 | |
| chr16:2,537,433–2,538,433 | 62.8 kb | Distal (>10kb) Multiome | 498 | |
| chr16:2,603,176–2,603,939 | 128.3 kb | Distal (>10kb) Multiome | 1066 | |
| chr16:2,673,059–2,673,910 | 198.4 kb | Distal (>10kb) Multiome | 471 | |
| chr16:2,682,205–2,683,006 | 207.4 kb | Distal (>10kb) Multiome | 1003 | |
| chr16:2,720,741–2,721,896 | 246.2 kb | Distal (>10kb) Multiome | 758 | |
| chr16:2,751,637–2,753,398 | 277.4 kb | Distal (>10kb) Multiome | 1074 |
Genomic view of the TBC1D24 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.