The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for LTBP4. 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 = LTBP4 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 LTBP4, 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 |
|---|---|---|---|---|
| chr19:40,347,917–40,348,964 | 264.9 kb | Distal (>10kb) Multiome | 843 | |
| chr19:40,365,649–40,366,111 | 247.6 kb | Distal (>10kb) Multiome | 244 | |
| chr19:40,398,541–40,399,285 | 214.5 kb | Distal (>10kb) Multiome | 234 | |
| chr19:40,403,323–40,404,681 | 209.8 kb | Distal (>10kb) Multiome | 638 | |
| chr19:40,420,702–40,421,699 | 192.3 kb | Distal (>10kb) Multiome | 966 | |
| chr19:40,424,783–40,426,631 | 187.4 kb | Distal (>10kb) Multiome | 954 | |
| chr19:40,433,505–40,434,546 | 179.4 kb | Distal (>10kb) Multiome | 791 | |
| chr19:40,442,698–40,445,144 | 170.2 kb | Distal (>10kb) Multiome | 994 | |
| chr19:40,465,326–40,466,635 | 147.5 kb | Distal (>10kb) Multiome | 815 | |
| chr19:40,487,850–40,488,306 | 125.3 kb | Distal (>10kb) Multiome | 193 | |
| chr19:40,519,457–40,519,993 | 93.7 kb | Distal (>10kb) Multiome | 222 | |
| chr19:40,528,978–40,529,879 | 84.1 kb | Distal (>10kb) Multiome | 601 | |
| chr19:40,529,987–40,530,863 | 82.8 kb | Distal (>10kb) Multiome | 384 | |
| chr19:40,549,036–40,549,555 | 64.0 kb | Distal (>10kb) Multiome | 372 | |
| chr19:40,570,181–40,571,253 | 42.7 kb | Distal (>10kb) Multiome | 598 | |
| chr19:40,576,133–40,577,495 | 36.6 kb | Distal (>10kb) Multiome | 616 | |
| chr19:40,596,828–40,597,429 | 16.4 kb | Distal (>10kb) Multiome | 354 | |
| chr19:40,598,094–40,598,871 | 14.9 kb | Distal (>10kb) Multiome | 606 | |
| chr19:40,601,096–40,601,602 | 3.9 kb | Proximal (<10kb) | 276 | |
| chr19:40,602,700–40,602,861 | 5.5 kb | Proximal (<10kb) | 316 | |
| chr19:40,603,345–40,604,624 | 9.3 kb | Proximal (<10kb) Multiome | 889 | |
| chr19:40,604,983–40,606,597 | 7.7 kb | Proximal (<10kb) Multiome | 708 | |
| chr19:40,609,543–40,610,691 | 3.3 kb | Proximal (<10kb) Multiome | 519 | |
| chr19:40,612,884–40,615,179 | 249 bp | At TSS Multiome | 595 | |
| chr19:40,623,557–40,624,516 | 10.6 kb | Distal (>10kb) Multiome | 454 | |
| chr19:40,634,333–40,634,959 | 21.2 kb | Distal (>10kb) Multiome | 629 | |
| chr19:40,662,838–40,663,654 | 49.6 kb | Distal (>10kb) Multiome | 856 | |
| chr19:40,689,888–40,691,759 | 77.4 kb | Distal (>10kb) Multiome | 691 | |
| chr19:40,714,822–40,715,454 | 101.7 kb | Distal (>10kb) Multiome | 531 | |
| chr19:40,716,605–40,717,875 | 103.6 kb | Distal (>10kb) Multiome | 772 | |
| chr19:40,750,206–40,751,874 | 137.4 kb | Distal (>10kb) Multiome | 989 | |
| chr19:40,777,237–40,779,173 | 164.9 kb | Distal (>10kb) Multiome | 901 | |
| chr19:40,798,002–40,799,843 | 185.6 kb | Distal (>10kb) Multiome | 936 | |
| chr19:40,806,580–40,807,205 | 193.6 kb | Distal (>10kb) Multiome | 496 | |
| chr19:40,810,733–40,811,261 | 197.6 kb | Distal (>10kb) Multiome | 115 |
Genomic view of the LTBP4 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.