This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Transcription factors with Perturb-seq knockdown data for TMEM231. 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 = TMEM231 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 TMEM231, 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 |
|---|---|---|---|---|
| chr16:75,265,114–75,266,526 | 290.2 kb | Distal (>10kb) Multiome | 798 | |
| chr16:75,432,825–75,434,426 | 122.7 kb | Distal (>10kb) Multiome | 1143 | |
| chr16:75,463,598–75,465,197 | 91.5 kb | Distal (>10kb) Multiome | 999 | |
| chr16:75,494,705–75,495,929 | 60.8 kb | Distal (>10kb) Multiome | 341 | |
| chr16:75,516,521–75,518,019 | 38.8 kb | Distal (>10kb) Multiome | 921 | |
| chr16:75,550,324–75,550,559 | 4.7 kb | Proximal (<10kb) | 203 | |
| chr16:75,555,188–75,556,662 | 978 bp | At TSS Multiome | 900 | |
| chr16:75,565,173–75,565,338 | 9.9 kb | Proximal (<10kb) | 364 | |
| chr16:75,565,779–75,567,123 | 10.1 kb | Distal (>10kb) Multiome | 834 | |
| chr16:75,593,861–75,594,383 | 37.9 kb | Distal (>10kb) Multiome | 336 | |
| chr16:75,622,804–75,623,690 | 67.0 kb | Distal (>10kb) Multiome | 852 | |
| chr16:75,647,337–75,649,003 | 92.6 kb | Distal (>10kb) Multiome | 1002 | |
| chr16:77,190,160–77,191,630 | 1634.6 kb | Distal (>10kb) Multiome HiCAR | 915 |
Genomic view of the TMEM231 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.