The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for CD46. 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 = CD46 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 CD46, 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 |
|---|---|---|---|---|
| chr1:207,453,941–207,454,999 | 297.7 kb | Distal (>10kb) Multiome | 525 | |
| chr1:207,579,217–207,579,858 | 172.5 kb | Distal (>10kb) Multiome | 258 | |
| chr1:207,633,750–207,634,299 | 118.1 kb | Distal (>10kb) Multiome | 77 | |
| chr1:207,644,651–207,646,070 | 107.0 kb | Distal (>10kb) Multiome | 404 | |
| chr1:207,751,438–207,753,038 | 43 bp | At TSS Multiome | 886 | |
| chr1:207,868,258–207,869,634 | 117.1 kb | Distal (>10kb) Multiome | 605 | |
| chr1:207,958,821–207,959,846 | 207.4 kb | Distal (>10kb) Multiome | 203 | |
| chr1:207,962,859–207,964,269 | 211.6 kb | Distal (>10kb) Multiome | 820 | |
| chr1:208,040,793–208,041,533 | 289.1 kb | Distal (>10kb) Multiome | 20 | |
| chr1:209,427,749–209,429,011 | 1676.4 kb | Distal (>10kb) Multiome HiCAR | 272 |
Genomic view of the CD46 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.