Aliases for CALM2 Gene
External Ids for CALM2 Gene
Previous GeneCards Identifiers for CALM2 Gene
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]
GeneCards Summary for CALM2 Gene
CALM2 (Calmodulin 2 (Phosphorylase Kinase, Delta)) is a Protein Coding gene. Diseases associated with CALM2 include Long Qt Syndrome 15 and Long Qt Syndrome 1. Among its related pathways are Calcineurin-regulated NFAT-dependent transcription in lymphocytes and DAG and IP3 signaling. GO annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CABP2.
UniProtKB/Swiss-Prot for CALM2 Gene
Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.