Calmodulin-2 (CALM2) Human Recombinant Protein

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]

Calmodulin: a calcium-binding small regulatory protein that mediates the control of a large number of enzymes by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Has four functional calcium-binding domains. Phosphorylation and ubiquitination result in a decreased activity.

Protein type: Calcium-binding

Chromosomal Location of Human Ortholog: 14q32.11

Cellular Component: nucleoplasm; spindle pole; centrosome; sarcomere; growth cone; spindle microtubule; cytoplasm; extracellular region; plasma membrane; cytosol; nucleus; vesicle

Molecular Function: protein domain specific binding; nitric-oxide synthase regulator activity; titin binding; calcium ion binding; protein kinase binding; calcium-dependent protein binding; protein serine/threonine kinase activator activity; protein binding; N-terminal myristoylation domain binding; phospholipase binding; thioesterase binding; phosphoinositide 3-kinase binding; type 3 metabotropic glutamate receptor binding; nitric-oxide synthase binding; adenylate cyclase binding

Biological Process: positive regulation of phosphoprotein phosphatase activity; phototransduction, visible light; inositol phosphate metabolic process; nerve growth factor receptor signaling pathway; pathogenesis; signal transduction; nitric oxide metabolic process; positive regulation of protein amino acid dephosphorylation; synaptic transmission; substantia nigra development; platelet degranulation; muscle contraction; positive regulation of cyclic nucleotide metabolic process; response to corticosterone stimulus; epidermal growth factor receptor signaling pathway; platelet activation; mitochondrion organization and biogenesis; glycogen catabolic process; fibroblast growth factor receptor signaling pathway; regulation of heart rate; positive regulation of nitric-oxide synthase activity; organelle organization and biogenesis; adenylate cyclase activation; response to amphetamine; glucose metabolic process; regulation of cytokinesis; positive regulation of protein amino acid autophosphorylation; rhodopsin mediated signaling; G-protein coupled receptor protein signaling pathway; regulation of rhodopsin mediated signaling; phospholipase C activation; carbohydrate metabolic process; innate immune response; positive regulation of cyclic-nucleotide phosphodiesterase activity; regulation of nitric-oxide synthase activity; detection of calcium ion; vascular endothelial growth factor receptor signaling pathway; blood coagulation; response to calcium ion

Disease: Long Qt Syndrome 14; Ventricular Tachycardia, Catecholaminergic Polymorphic, 4