This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Transcription factors with Perturb-seq knockdown data for CALM2. 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 = CALM2 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 CALM2, 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 |
|---|---|---|---|---|
| chr2:46,915,163–46,916,556 | 260.6 kb | Distal (>10kb) Multiome | 931 | |
| chr2:46,940,391–46,942,183 | 235.3 kb | Distal (>10kb) Multiome | 931 | |
| chr2:46,986,672–46,987,498 | 189.3 kb | Distal (>10kb) Multiome HiCAR | 630 | |
| chr2:47,019,690–47,020,313 | 156.5 kb | Distal (>10kb) Multiome | 52 | |
| chr2:47,174,954–47,177,223 | 218 bp | At TSS Multiome | 1239 | |
| chr2:47,179,402–47,179,647 | 2.9 kb | Proximal (<10kb) | 112 | |
| chr2:47,272,083–47,272,830 | 96.0 kb | Distal (>10kb) Multiome HiCAR | 744 | |
| chr2:47,309,704–47,310,671 | 133.6 kb | Distal (>10kb) Multiome HiCAR | 599 | |
| chr2:47,344,928–47,345,791 | 168.7 kb | Distal (>10kb) Multiome | 714 | |
| chr2:47,357,404–47,357,893 | 181.1 kb | Distal (>10kb) Multiome | 106 | |
| chr2:47,368,887–47,370,156 | 192.7 kb | Distal (>10kb) Multiome | 897 | |
| chr2:47,401,975–47,403,688 | 226.5 kb | Distal (>10kb) Multiome | 1037 |
Genomic view of the CALM2 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.