This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for CC2D2A. 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 = CC2D2A 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 CC2D2A, 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 |
|---|---|---|---|---|
| chr4:15,469,543–15,470,186 | 9.0 kb | Proximal (<10kb) | 143 | |
| chr4:15,478,821–15,479,992 | 175 bp | At TSS Multiome | 573 | |
| chr4:15,482,474–15,482,819 | 3.3 kb | Proximal (<10kb) | 19 | |
| chr4:15,482,913–15,483,330 | 3.7 kb | Proximal (<10kb) | 43 | |
| chr4:15,654,616–15,656,736 | 176.1 kb | Distal (>10kb) Multiome HiCAR | 937 | |
| chr4:15,681,242–15,682,290 | 202.4 kb | Distal (>10kb) Multiome | 960 | |
| chr4:15,702,743–15,703,565 | 223.9 kb | Distal (>10kb) Multiome | 208 |
Genomic view of the CC2D2A 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.