This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for TMEM138. 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 = TMEM138 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 TMEM138, 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 | 203.6 kb | Distal (>10kb) Multiome | 223 | |
| chr11:61,160,742–61,162,049 | 200.9 kb | Distal (>10kb) Multiome | 851 | |
| chr11:61,281,385–61,282,193 | 80.6 kb | Distal (>10kb) Multiome | 231 | |
| chr11:61,294,197–61,295,784 | 67.2 kb | Distal (>10kb) Multiome | 761 | |
| chr11:61,332,596–61,333,687 | 29.2 kb | Distal (>10kb) Multiome | 897 | |
| chr11:61,361,602–61,362,481 | 232 bp | At TSS Multiome | 905 | |
| chr11:61,392,209–61,392,929 | 30.2 kb | Distal (>10kb) Multiome | 800 | |
| chr11:61,429,326–61,430,423 | 67.5 kb | Distal (>10kb) Multiome | 975 | |
| chr11:61,508,087–61,510,095 | 146.2 kb | Distal (>10kb) Multiome | 740 | |
| chr11:61,567,110–61,568,033 | 205.2 kb | Distal (>10kb) Multiome | 1078 | |
| chr11:61,580,454–61,581,871 | 219.0 kb | Distal (>10kb) Multiome | 760 | |
| chr11:61,587,343–61,588,726 | 225.9 kb | Distal (>10kb) Multiome | 271 |
Genomic view of the TMEM138 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.