The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for TECPR2. 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 = TECPR2 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 TECPR2, 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 |
|---|---|---|---|---|
| chr14:102,086,286–102,088,835 | 275.9 kb | Distal (>10kb) Multiome | 1052 | |
| chr14:102,097,398–102,098,067 | 265.4 kb | Distal (>10kb) Multiome | 159 | |
| chr14:102,139,026–102,140,960 | 223.4 kb | Distal (>10kb) Multiome | 844 | |
| chr14:102,247,845–102,248,746 | 114.7 kb | Distal (>10kb) Multiome | 142 | |
| chr14:102,304,511–102,305,687 | 57.9 kb | Distal (>10kb) Multiome | 568 | |
| chr14:102,314,028–102,314,685 | 48.7 kb | Distal (>10kb) Multiome | 720 | |
| chr14:102,316,590–102,317,741 | 46.0 kb | Distal (>10kb) Multiome | 885 | |
| chr14:102,319,368–102,320,458 | 43.3 kb | Distal (>10kb) Multiome | 675 | |
| chr14:102,362,620–102,363,583 | 80 bp | At TSS Multiome | 705 | |
| chr14:102,507,117–102,508,097 | 144.6 kb | Distal (>10kb) Multiome | 100 | |
| chr14:102,508,416–102,511,398 | 146.8 kb | Distal (>10kb) Multiome | 778 | |
| chr14:102,516,500–102,517,914 | 153.9 kb | Distal (>10kb) Multiome | 694 | |
| chr14:102,524,045–102,525,126 | 161.7 kb | Distal (>10kb) Multiome | 817 | |
| chr14:102,545,130–102,546,123 | 182.6 kb | Distal (>10kb) Multiome | 458 | |
| chr14:102,554,738–102,555,873 | 192.5 kb | Distal (>10kb) Multiome | 280 | |
| chr14:102,585,306–102,585,775 | 222.5 kb | Distal (>10kb) Multiome | 259 | |
| chr14:102,591,431–102,593,846 | 229.4 kb | Distal (>10kb) Multiome | 895 |
Genomic view of the TECPR2 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.