This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for CCM2. 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 = CCM2 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 CCM2, 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 |
|---|---|---|---|---|
| chr7:44,748,085–44,749,703 | 251.7 kb | Distal (>10kb) Multiome | 665 | |
| chr7:44,795,796–44,797,747 | 203.7 kb | Distal (>10kb) Multiome | 1094 | |
| chr7:44,847,376–44,848,800 | 152.1 kb | Distal (>10kb) Multiome | 990 | |
| chr7:44,884,668–44,886,169 | 114.7 kb | Distal (>10kb) Multiome | 956 | |
| chr7:44,962,460–44,963,298 | 37.4 kb | Distal (>10kb) Multiome | 179 | |
| chr7:44,986,037–44,987,077 | 13.6 kb | Distal (>10kb) Multiome | 748 | |
| chr7:44,999,127–45,000,858 | 321 bp | At TSS Multiome | 706 | |
| chr7:45,001,128–45,001,683 | 829 bp | At TSS | 309 | |
| chr7:45,051,984–45,052,624 | 52.0 kb | Distal (>10kb) Multiome | 90 | |
| chr7:45,088,228–45,089,744 | 88.9 kb | Distal (>10kb) Multiome | 375 | |
| chr7:45,111,371–45,112,159 | 111.5 kb | Distal (>10kb) Multiome | 1026 | |
| chr7:45,259,911–45,260,671 | 259.9 kb | Distal (>10kb) Multiome | 265 |
Genomic view of the CCM2 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.