CALM2
calmodulin 2 | CAMII, PHKD, PHKD2

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]

Member of: DE-11 DE-11.5 Developmental clusters: GC5
Biological processes 83 terms
G protein-coupled receptor signaling pathway (GO:0007186)adenylate cyclase activator activity (GO:0010856)adenylate cyclase activator activity (GO:0010856)adenylate cyclase binding (GO:0008179)calcineurin-mediated signaling (GO:0097720)calcineurin-mediated signaling (GO:0097720)calcineurin-mediated signaling (GO:0097720)calcium channel complex (GO:0034704)calcium channel complex (GO:0034704)calcium channel inhibitor activity (GO:0019855)calcium channel regulator activity (GO:0005246)calcium channel regulator activity (GO:0005246)calcium ion binding (GO:0005509)calcium ion binding (GO:0005509)calcium ion binding (GO:0005509)calcium-dependent protein binding (GO:0048306)calcium-dependent protein binding (GO:0048306)calyx of Held (GO:0044305)catalytic complex (GO:1902494)centrosome (GO:0005813)centrosome (GO:0005813)centrosome (GO:0005813)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytosol (GO:0005829)detection of calcium ion (GO:0005513)detection of calcium ion (GO:0005513)detection of calcium ion (GO:0005513)long-term synaptic potentiation (GO:0060291)long-term synaptic potentiation (GO:0060291)membrane (GO:0016020)membrane (GO:0016020)myelin sheath (GO:0043209)myelin sheath (GO:0043209)negative regulation of calcium ion export across plasma membrane (GO:1905913)negative regulation of calcium ion export across plasma membrane (GO:1905913)negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)nucleus (GO:0005634)nucleus (GO:0005634)plasma membrane (GO:0005886)presynaptic cytosol (GO:0099523)presynaptic endocytosis (GO:0140238)protein binding (GO:0005515)protein kinase binding (GO:0019901)protein kinase binding (GO:0019901)protein phosphatase activator activity (GO:0072542)protein phosphatase activator activity (GO:0072542)protein serine/threonine kinase activator activity (GO:0043539)protein serine/threonine kinase activator activity (GO:0043539)protein serine/threonine kinase activator activity (GO:0043539)protein-containing complex (GO:0032991)regulation of calcium-mediated signaling (GO:0050848)regulation of cardiac muscle contraction (GO:0055117)regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)regulation of cytokinesis (GO:0032465)regulation of cytokinesis (GO:0032465)regulation of heart rate (GO:0002027)regulation of heart rate (GO:0002027)regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)response to calcium ion (GO:0051592)sarcomere (GO:0030017)sarcomere (GO:0030017)sperm midpiece (GO:0097225)spindle (GO:0005819)spindle microtubule (GO:0005876)spindle microtubule (GO:0005876)spindle pole (GO:0000922)spindle pole (GO:0000922)substantia nigra development (GO:0021762)titin binding (GO:0031432)titin binding (GO:0031432)transmembrane transporter binding (GO:0044325)transporter inhibitor activity (GO:0141110)transporter inhibitor activity (GO:0141110)vesicle (GO:0031982)vesicle (GO:0031982)vesicle (GO:0031982)voltage-gated potassium channel complex (GO:0008076)
Expression (TPM)
CALM2 — as a Regulated Gene

TFs regulating CALM2 0 TFs

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.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to CALM2

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

Genome Browser

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.

chr2:46,905,163 – 47,413,688
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq