This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Transcription factors with Perturb-seq knockdown data for BCAM. 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 = BCAM 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 BCAM, 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 |
|---|---|---|---|---|
| chr19:44,643,571–44,644,620 | 165.2 kb | Distal (>10kb) Multiome | 710 | |
| chr19:44,747,085–44,747,789 | 61.5 kb | Distal (>10kb) Multiome | 653 | |
| chr19:44,757,112–44,758,480 | 51.7 kb | Distal (>10kb) Multiome | 209 | |
| chr19:44,758,633–44,759,104 | 50.1 kb | Distal (>10kb) Multiome | 80 | |
| chr19:44,770,589–44,771,108 | 38.3 kb | Distal (>10kb) Multiome | 367 | |
| chr19:44,777,671–44,778,314 | 31.2 kb | Distal (>10kb) Multiome | 353 | |
| chr19:44,800,231–44,800,829 | 8.4 kb | Proximal (<10kb) Multiome | 508 | |
| chr19:44,807,965–44,809,338 | 948 bp | At TSS Multiome | 652 | |
| chr19:44,844,448–44,848,668 | 35.7 kb | Distal (>10kb) Multiome | 1047 | |
| chr19:44,890,209–44,891,796 | 81.8 kb | Distal (>10kb) Multiome | 952 | |
| chr19:44,903,686–44,904,241 | 94.7 kb | Distal (>10kb) Multiome | 666 | |
| chr19:44,905,114–44,907,037 | 97.6 kb | Distal (>10kb) Multiome | 645 | |
| chr19:44,913,546–44,915,671 | 106.1 kb | Distal (>10kb) Multiome | 587 | |
| chr19:44,926,693–44,927,388 | 118.1 kb | Distal (>10kb) Multiome | 277 | |
| chr19:44,954,641–44,955,824 | 146.2 kb | Distal (>10kb) Multiome | 835 | |
| chr19:45,001,031–45,002,639 | 192.3 kb | Distal (>10kb) Multiome | 694 | |
| chr19:45,038,879–45,039,566 | 230.1 kb | Distal (>10kb) Multiome | 800 | |
| chr19:45,075,125–45,076,814 | 267.4 kb | Distal (>10kb) Multiome | 710 | |
| chr19:45,078,897–45,080,647 | 271.1 kb | Distal (>10kb) Multiome | 1012 | |
| chr19:45,091,042–45,093,574 | 283.9 kb | Distal (>10kb) Multiome | 959 |
Genomic view of the BCAM 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.