The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for TM2D1. 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 = TM2D1 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 TM2D1, 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 |
|---|---|---|---|---|
| chr1:61,436,457–61,437,346 | 288.2 kb | Distal (>10kb) Multiome | 172 | |
| chr1:61,452,941–61,454,099 | 271.7 kb | Distal (>10kb) Multiome | 591 | |
| chr1:61,588,576–61,589,625 | 136.0 kb | Distal (>10kb) Multiome | 340 | |
| chr1:61,641,530–61,642,260 | 83.2 kb | Distal (>10kb) Multiome | 279 | |
| chr1:61,724,765–61,725,662 | 131 bp | At TSS Multiome | 965 | |
| chr1:61,741,831–61,743,539 | 17.3 kb | Distal (>10kb) Multiome | 689 | |
| chr1:61,743,829–61,744,474 | 19.1 kb | Distal (>10kb) Multiome | 159 | |
| chr1:61,851,257–61,852,125 | 126.5 kb | Distal (>10kb) Multiome | 43 |
Genomic view of the TM2D1 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.