This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for CC2D1A. 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 = CC2D1A 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 CC2D1A, 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 |
|---|---|---|---|---|
| chr19:13,747,559–13,748,233 | 158.5 kb | Distal (>10kb) Multiome | 785 | |
| chr19:13,774,293–13,775,050 | 131.8 kb | Distal (>10kb) Multiome | 904 | |
| chr19:13,794,728–13,795,999 | 111.0 kb | Distal (>10kb) Multiome | 763 | |
| chr19:13,817,290–13,818,525 | 88.3 kb | Distal (>10kb) Multiome | 368 | |
| chr19:13,833,328–13,834,074 | 72.6 kb | Distal (>10kb) Multiome | 638 | |
| chr19:13,841,592–13,843,282 | 63.4 kb | Distal (>10kb) Multiome | 600 | |
| chr19:13,846,368–13,848,126 | 58.6 kb | Distal (>10kb) Multiome | 1040 | |
| chr19:13,850,226–13,850,701 | 55.7 kb | Distal (>10kb) Multiome | 516 | |
| chr19:13,861,855–13,862,533 | 43.9 kb | Distal (>10kb) Multiome | 655 | |
| chr19:13,872,706–13,873,325 | 33.2 kb | Distal (>10kb) Multiome | 254 | |
| chr19:13,879,942–13,880,779 | 26.0 kb | Distal (>10kb) Multiome | 780 | |
| chr19:13,905,895–13,906,734 | 117 bp | At TSS Multiome | 835 | |
| chr19:13,951,898–13,953,117 | 46.1 kb | Distal (>10kb) Multiome | 667 | |
| chr19:13,962,408–13,964,055 | 57.5 kb | Distal (>10kb) Multiome | 166 | |
| chr19:13,978,193–13,979,385 | 72.3 kb | Distal (>10kb) Multiome | 238 | |
| chr19:14,005,474–14,007,363 | 100.2 kb | Distal (>10kb) Multiome | 1098 | |
| chr19:14,031,574–14,032,483 | 125.9 kb | Distal (>10kb) Multiome | 726 | |
| chr19:14,057,383–14,057,841 | 151.4 kb | Distal (>10kb) Multiome | 244 | |
| chr19:14,071,936–14,072,417 | 166.0 kb | Distal (>10kb) Multiome HiCAR | 676 | |
| chr19:14,072,991–14,073,911 | 167.4 kb | Distal (>10kb) Multiome HiCAR | 589 | |
| chr19:14,081,022–14,082,024 | 175.2 kb | Distal (>10kb) Multiome | 806 | |
| chr19:14,089,535–14,092,049 | 184.7 kb | Distal (>10kb) Multiome | 766 | |
| chr19:14,117,519–14,118,617 | 211.7 kb | Distal (>10kb) Multiome | 734 | |
| chr19:14,136,079–14,137,770 | 230.6 kb | Distal (>10kb) Multiome | 978 |
Genomic view of the CC2D1A 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.