CALM2 Chromosome 2
Calmodulin 2
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits"
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000143933
Associated Conditions (6)
Long QT syndrome 1
Cardiovascular phenotype
Inborn genetic diseases
Long QT syndrome 15
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Key Variants
RS1324754202
Conflicting classifications of pathogenicity
Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome 1
Health Risk
RS1553431711
Conflicting classifications of pathogenicity
Long QT syndrome 1, Inborn genetic diseases, Long QT syndrome 1
Health Risk
RS372947059
Conflicting classifications of pathogenicity
Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome 1
Health Risk
RS1558693760
Likely pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS2103821507
Likely pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS2103823599
Likely pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS2465707237
Likely pathogenic
Long QT syndrome 15, Long QT syndrome 15
Health Risk
RS2465708816
Likely pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS398124650
Likely pathogenic
Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15
Health Risk
RS1553431702
Pathogenic
Long QT syndrome 15, Long QT syndrome 15
Health Risk
RS1573214163
Pathogenic
Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15
Health Risk
RS1687164164
Pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1324754202 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome 1 |
| RS1553431711 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 1, Inborn genetic diseases, Long QT syndrome 1 |
| RS372947059 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome 1 |
| RS1558693760 | Health Risk | Likely pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS2103821507 | Health Risk | Likely pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS2103823599 | Health Risk | Likely pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS2465707237 | Health Risk | Likely pathogenic | Long QT syndrome 15, Long QT syndrome 15 |
| RS2465708816 | Health Risk | Likely pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS398124650 | Health Risk | Likely pathogenic | Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15 |
| RS1553431702 | Health Risk | Pathogenic | Long QT syndrome 15, Long QT syndrome 15 |
| RS1573214163 | Health Risk | Pathogenic | Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15 |
| RS1687164164 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS2103823612 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS2103823638 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS2103823712 | Health Risk | Pathogenic | SUDDEN INFANT DEATH SYNDROME, SUDDEN INFANT DEATH SYNDROME |
| RS398124647 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 15, Long QT syndrome |
| RS398124648 | Health Risk | Pathogenic | Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15 |
| RS730882254 | Health Risk | Pathogenic | Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15 |
| RS1573214371 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 1, Long QT syndrome 15, Long QT syndrome 1 |
| RS398124649 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 15, Long QT syndrome 1, Long QT syndrome 15 |