This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Transcription factors with Perturb-seq knockdown data for TMEM216. 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 = TMEM216 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 TMEM216, 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 |
|---|---|---|---|---|
| chr11:61,158,562–61,159,021 | 233.8 kb | Distal (>10kb) Multiome | 223 | |
| chr11:61,160,742–61,162,049 | 231.1 kb | Distal (>10kb) Multiome | 851 | |
| chr11:61,281,385–61,282,193 | 110.9 kb | Distal (>10kb) Multiome | 231 | |
| chr11:61,294,197–61,295,784 | 97.4 kb | Distal (>10kb) Multiome | 761 | |
| chr11:61,332,596–61,333,687 | 59.4 kb | Distal (>10kb) Multiome | 897 | |
| chr11:61,361,602–61,362,481 | 30.5 kb | Distal (>10kb) Multiome | 905 | |
| chr11:61,385,657–61,385,858 | 6.8 kb | Proximal (<10kb) | 269 | |
| chr11:61,392,209–61,392,929 | 42 bp | At TSS Multiome | 800 | |
| chr11:61,429,326–61,430,423 | 37.3 kb | Distal (>10kb) Multiome | 975 | |
| chr11:61,508,087–61,510,095 | 116.0 kb | Distal (>10kb) Multiome | 740 | |
| chr11:61,567,110–61,568,033 | 175.0 kb | Distal (>10kb) Multiome | 1078 | |
| chr11:61,580,454–61,581,871 | 188.7 kb | Distal (>10kb) Multiome | 760 | |
| chr11:61,587,343–61,588,726 | 195.7 kb | Distal (>10kb) Multiome | 271 | |
| chr11:61,680,168–61,680,631 | 287.7 kb | Distal (>10kb) Multiome | 532 |
Genomic view of the TMEM216 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.