CALM2


Description

The CALM2 (calmodulin 2) is a protein-coding gene located on chromosome 2.

Calmodulin 2 is a protein encoded by the CALM2 gene in humans. It belongs to the calmodulin family of signaling molecules, acting as an intermediary between calcium ions (which act as second messengers) and many intracellular processes, including cardiac muscle contraction. Mutations in CALM2 are linked to cardiac arrhythmias. Specifically, several single-nucleotide polymorphisms in CALM2 have been identified as potential causes of sudden infant death syndrome. Due to their heritability, these mutations can impact multiple children in a family, leading to legal challenges against murder convictions of mothers with multiple deceased infants, as exemplified by the case of Kathleen Folbigg. CALM2 interacts with AKAP9.

Calmodulin-2 (CALM2) plays a crucial role in calcium signaling pathways by regulating various cellular processes through calcium binding. It controls a wide range of enzymes, ion channels, aquaporins, and other proteins. This calcium binding is essential for activating calmodulin. It interacts with and stimulates several protein kinases, including myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), as well as phosphatases. In collaboration with CCP110 and centrin, it participates in a genetic pathway that controls the centrosome cycle and progression through cytokinesis. It mediates calcium-dependent inactivation of CACNA1C and positively regulates calcium-activated potassium channel activity of KCNN2.

CALM2 is also known as CALM, CALML2, CAM1, CAM3, CAMC, CAMII, CAMIII, LQT15, PHKD, PHKD2, caM.

Associated Diseases



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