This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Transcription factors with Perturb-seq knockdown data for TMEM165. 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 = TMEM165 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 TMEM165, 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 |
|---|---|---|---|---|
| chr4:54,986,173–54,986,703 | 409.6 kb | Distal (>10kb) Multiome HiCAR | 116 | |
| chr4:55,124,658–55,126,127 | 270.4 kb | Distal (>10kb) Multiome | 263 | |
| chr4:55,169,439–55,169,958 | 226.3 kb | Distal (>10kb) Multiome | 88 | |
| chr4:55,256,726–55,257,189 | 138.9 kb | Distal (>10kb) Multiome | 74 | |
| chr4:55,280,261–55,281,766 | 114.6 kb | Distal (>10kb) Multiome | 162 | |
| chr4:55,346,084–55,347,178 | 49.6 kb | Distal (>10kb) Multiome | 874 | |
| chr4:55,386,156–55,386,350 | 9.6 kb | Proximal (<10kb) | 115 | |
| chr4:55,395,297–55,396,739 | 97 bp | At TSS Multiome | 882 | |
| chr4:55,545,595–55,547,586 | 150.8 kb | Distal (>10kb) Multiome | 933 | |
| chr4:55,635,259–55,636,954 | 240.3 kb | Distal (>10kb) Multiome | 468 | |
| chr4:55,675,062–55,675,981 | 279.5 kb | Distal (>10kb) Multiome | 89 | |
| chr4:55,676,969–55,678,075 | 281.4 kb | Distal (>10kb) Multiome | 12 |
Genomic view of the TMEM165 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.