The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Transcription factors with Perturb-seq knockdown data for TMEM67. 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 = TMEM67 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 TMEM67, 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 |
|---|---|---|---|---|
| chr8:93,582,408–93,584,018 | 171.2 kb | Distal (>10kb) Multiome | 191 | |
| chr8:93,699,869–93,701,509 | 54.4 kb | Distal (>10kb) Multiome | 609 | |
| chr8:93,740,245–93,741,472 | 13.8 kb | Distal (>10kb) Multiome | 876 | |
| chr8:93,746,443–93,746,614 | 8.3 kb | Proximal (<10kb) | 31 | |
| chr8:93,748,775–93,749,056 | 5.8 kb | Proximal (<10kb) | 127 | |
| chr8:93,750,573–93,751,014 | 3.9 kb | Proximal (<10kb) | 27 | |
| chr8:93,754,676–93,755,350 | 9 bp | At TSS Multiome | 573 | |
| chr8:93,915,949–93,918,134 | 161.8 kb | Distal (>10kb) Multiome | 821 | |
| chr8:93,943,280–93,944,641 | 189.2 kb | Distal (>10kb) Multiome | 354 | |
| chr8:93,952,630–93,953,256 | 198.1 kb | Distal (>10kb) Multiome | 63 | |
| chr8:93,991,163–93,992,088 | 236.8 kb | Distal (>10kb) Multiome | 561 |
Genomic view of the TMEM67 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.