This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Transcription factors with Perturb-seq knockdown data for C5. 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 = C5 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 C5, 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 |
|---|---|---|---|---|
| chr9:120,730,681–120,731,453 | 343.9 kb | Distal (>10kb) Multiome HiCAR | 456 | |
| chr9:120,792,955–120,793,917 | 281.5 kb | Distal (>10kb) Multiome | 991 | |
| chr9:120,842,458–120,843,456 | 231.9 kb | Distal (>10kb) Multiome | 838 | |
| chr9:120,868,216–120,869,551 | 206.0 kb | Distal (>10kb) Multiome | 643 | |
| chr9:120,875,854–120,877,760 | 198.6 kb | Distal (>10kb) Multiome | 982 | |
| chr9:120,928,372–120,929,413 | 145.9 kb | Distal (>10kb) Multiome | 626 | |
| chr9:121,074,349–121,075,511 | 115 bp | At TSS Multiome | 1041 | |
| chr9:121,121,551–121,122,082 | 46.8 kb | Distal (>10kb) Multiome | 539 | |
| chr9:121,201,011–121,202,492 | 127.0 kb | Distal (>10kb) Multiome | 850 | |
| chr9:121,267,686–121,269,264 | 193.2 kb | Distal (>10kb) Multiome | 550 | |
| chr9:121,286,406–121,287,700 | 212.4 kb | Distal (>10kb) Multiome | 735 | |
| chr9:121,299,542–121,300,058 | 224.8 kb | Distal (>10kb) Multiome | 428 | |
| chr9:121,369,661–121,370,788 | 295.5 kb | Distal (>10kb) Multiome | 849 |
Genomic view of the C5 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.