This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Transcription factors with Perturb-seq knockdown data for FAM136A. 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 = FAM136A 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 FAM136A, 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 |
|---|---|---|---|---|
| chr2:70,084,998–70,085,484 | 216.8 kb | Distal (>10kb) Multiome | 345 | |
| chr2:70,086,194–70,088,572 | 215.0 kb | Distal (>10kb) Multiome | 1204 | |
| chr2:70,089,216–70,090,447 | 212.3 kb | Distal (>10kb) Multiome | 459 | |
| chr2:70,123,128–70,125,445 | 178.6 kb | Distal (>10kb) Multiome | 779 | |
| chr2:70,140,819–70,143,188 | 159.4 kb | Distal (>10kb) Multiome | 1260 | |
| chr2:70,190,215–70,191,415 | 111.1 kb | Distal (>10kb) Multiome | 1013 | |
| chr2:70,248,096–70,249,173 | 53.4 kb | Distal (>10kb) Multiome | 999 | |
| chr2:70,257,355–70,258,877 | 44.0 kb | Distal (>10kb) Multiome | 879 | |
| chr2:70,283,629–70,284,233 | 18.2 kb | Distal (>10kb) Multiome | 27 | |
| chr2:70,293,224–70,294,270 | 8.4 kb | Proximal (<10kb) Multiome | 956 | |
| chr2:70,301,251–70,302,453 | 152 bp | At TSS Multiome | 1040 | |
| chr2:70,303,787–70,304,419 | 2.1 kb | Proximal (<10kb) Multiome | 306 | |
| chr2:70,553,223–70,554,611 | 252.1 kb | Distal (>10kb) Multiome HiCAR | 806 |
Genomic view of the FAM136A 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.