Gene: CALM2

Alternate names for this Gene: CALM|CALML2|CAM1|CAM3|CAMC|CAMII|CAMIII|LQT15|PHKD|PHKD2|caM

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: calmodulin 2

Type of Gene: protein-coding

rs815815 in CALM2 gene and Kidney Failure, Chronic PMID 21546767 2011 Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.

rs398124647 in CALM2 gene and LONG QT SYNDROME 15 PMID 26969752 2016 Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

PMID 27516456 2016 Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

PMID 26164367 2015 Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.

PMID 27165696 2016 Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.

PMID 23388215 2013 Calmodulin mutations associated with recurrent cardiac arrest in infants.

PMID 24917665 2014 Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

rs398124647 in CALM2 gene and VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 PMID 27516456 2016 Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

PMID 26164367 2015 Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.

PMID 23040497 2012 Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.

PMID 27165696 2016 Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.