The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]
Transcription factors with Perturb-seq knockdown data for TMEM185A. 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 = TMEM185A 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 TMEM185A, 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 |
|---|---|---|---|---|
| chrX:149,504,975–149,505,689 | 126.4 kb | Distal (>10kb) Multiome | 530 | |
| chrX:149,539,047–149,541,999 | 92.1 kb | Distal (>10kb) Multiome | 720 | |
| chrX:149,626,858–149,627,269 | 4.5 kb | Proximal (<10kb) | 9 | |
| chrX:149,629,767–149,630,404 | 1.3 kb | Proximal (<10kb) | 85 | |
| chrX:149,631,297–149,632,136 | at TSS | At TSS | 397 | |
| chrX:149,634,624–149,635,106 | 2.9 kb | Proximal (<10kb) | 11 | |
| chrX:149,719,990–149,720,515 | 88.5 kb | Distal (>10kb) Multiome HiCAR | 190 | |
| chrX:149,829,608–149,830,775 | 198.6 kb | Distal (>10kb) Multiome | 229 |
Genomic view of the TMEM185A 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.