This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for LRRC8A. 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 = LRRC8A 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 LRRC8A, 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 |
|---|---|---|---|---|
| chr9:128,656,436–128,657,126 | 225.4 kb | Distal (>10kb) Multiome | 1009 | |
| chr9:128,683,393–128,684,010 | 198.6 kb | Distal (>10kb) Multiome | 296 | |
| chr9:128,684,170–128,684,813 | 197.5 kb | Distal (>10kb) Multiome | 574 | |
| chr9:128,688,449–128,689,713 | 193.1 kb | Distal (>10kb) Multiome | 805 | |
| chr9:128,702,246–128,702,946 | 179.6 kb | Distal (>10kb) Multiome | 720 | |
| chr9:128,723,691–128,725,229 | 158.0 kb | Distal (>10kb) Multiome | 821 | |
| chr9:128,771,658–128,772,301 | 110.2 kb | Distal (>10kb) Multiome | 940 | |
| chr9:128,786,928–128,787,516 | 95.0 kb | Distal (>10kb) Multiome | 1040 | |
| chr9:128,818,208–128,819,406 | 63.8 kb | Distal (>10kb) Multiome | 839 | |
| chr9:128,829,505–128,830,189 | 52.4 kb | Distal (>10kb) Multiome | 782 | |
| chr9:128,881,863–128,882,454 | 128 bp | At TSS Multiome | 777 | |
| chr9:128,887,916–128,888,253 | 5.7 kb | Proximal (<10kb) | 121 | |
| chr9:128,921,941–128,922,727 | 40.1 kb | Distal (>10kb) Multiome | 378 | |
| chr9:128,947,329–128,947,815 | 65.4 kb | Distal (>10kb) Multiome | 865 | |
| chr9:129,027,821–129,028,677 | 146.2 kb | Distal (>10kb) Multiome | 639 | |
| chr9:129,036,276–129,036,937 | 154.3 kb | Distal (>10kb) Multiome | 736 | |
| chr9:129,080,488–129,081,502 | 198.8 kb | Distal (>10kb) Multiome | 755 | |
| chr9:129,110,314–129,111,708 | 228.9 kb | Distal (>10kb) Multiome | 881 | |
| chr9:129,177,207–129,178,809 | 296.1 kb | Distal (>10kb) Multiome | 824 |
Genomic view of the LRRC8A 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.