This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Transcription factors with Perturb-seq knockdown data for C2CD3. 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 = C2CD3 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 C2CD3, 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 |
|---|---|---|---|---|
| chr11:73,876,432–73,877,378 | 294.0 kb | Distal (>10kb) Multiome | 911 | |
| chr11:73,982,330–73,983,905 | 187.7 kb | Distal (>10kb) Multiome | 1122 | |
| chr11:74,170,498–74,171,610 | 260 bp | At TSS Multiome | 881 | |
| chr11:74,311,252–74,311,993 | 140.8 kb | Distal (>10kb) Multiome | 289 | |
| chr11:74,397,796–74,399,222 | 227.8 kb | Distal (>10kb) Multiome | 811 | |
| chr11:74,467,393–74,467,865 | 296.6 kb | Distal (>10kb) Multiome | 174 |
Genomic view of the C2CD3 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.