The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Transcription factors with Perturb-seq knockdown data for LAMTOR2. 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 = LAMTOR2 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 LAMTOR2, 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 |
|---|---|---|---|---|
| chr1:155,806,537–155,807,073 | 248.0 kb | Distal (>10kb) Multiome | 15 | |
| chr1:155,856,932–155,857,529 | 197.6 kb | Distal (>10kb) Multiome | 639 | |
| chr1:155,859,095–155,860,745 | 195.4 kb | Distal (>10kb) Multiome | 632 | |
| chr1:155,910,686–155,911,579 | 143.4 kb | Distal (>10kb) Multiome | 691 | |
| chr1:155,934,107–155,934,787 | 120.3 kb | Distal (>10kb) Multiome | 872 | |
| chr1:155,976,727–155,977,187 | 77.9 kb | Distal (>10kb) Multiome | 316 | |
| chr1:155,977,296–155,979,264 | 76.1 kb | Distal (>10kb) Multiome | 698 | |
| chr1:156,020,469–156,021,128 | 33.9 kb | Distal (>10kb) Multiome | 558 | |
| chr1:156,052,923–156,055,358 | 51 bp | At TSS Multiome | 1053 | |
| chr1:156,060,806–156,061,738 | 6.4 kb | Proximal (<10kb) Multiome | 318 | |
| chr1:156,063,507–156,064,184 | 9.0 kb | Proximal (<10kb) Multiome | 199 | |
| chr1:156,076,488–156,077,355 | 22.2 kb | Distal (>10kb) Multiome | 246 | |
| chr1:156,081,942–156,083,586 | 27.8 kb | Distal (>10kb) Multiome | 670 | |
| chr1:156,105,879–156,107,316 | 51.8 kb | Distal (>10kb) Multiome | 663 | |
| chr1:156,114,184–156,115,669 | 59.9 kb | Distal (>10kb) Multiome | 824 | |
| chr1:156,123,520–156,124,091 | 69.0 kb | Distal (>10kb) Multiome | 679 | |
| chr1:156,129,945–156,130,610 | 75.6 kb | Distal (>10kb) Multiome | 733 | |
| chr1:156,146,058–156,146,760 | 91.5 kb | Distal (>10kb) Multiome | 429 | |
| chr1:156,149,593–156,150,242 | 95.2 kb | Distal (>10kb) Multiome | 194 | |
| chr1:156,160,602–156,161,218 | 106.3 kb | Distal (>10kb) Multiome | 218 | |
| chr1:156,181,487–156,182,119 | 126.9 kb | Distal (>10kb) Multiome | 145 | |
| chr1:156,184,002–156,185,155 | 129.6 kb | Distal (>10kb) Multiome | 216 | |
| chr1:156,193,531–156,194,375 | 139.1 kb | Distal (>10kb) Multiome | 751 | |
| chr1:156,212,611–156,213,686 | 158.3 kb | Distal (>10kb) Multiome | 893 | |
| chr1:156,245,413–156,246,269 | 190.9 kb | Distal (>10kb) Multiome | 380 | |
| chr1:156,282,165–156,283,323 | 228.0 kb | Distal (>10kb) Multiome | 973 | |
| chr1:156,291,233–156,291,857 | 236.7 kb | Distal (>10kb) Multiome | 518 | |
| chr1:156,337,825–156,339,056 | 283.7 kb | Distal (>10kb) Multiome | 836 |
Genomic view of the LAMTOR2 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.