CALM2

Calmodulin 2 is a protein that in humans is encoded by the CALM2 gene.^[3][4] A member of the calmodulin family of signaling molecules, it is an intermediary between calcium ions, which act as a second messenger, and many intracellular processes, such as the contraction of cardiac muscle.^[5]

CALM2
Identifiers
Aliases	CALM2, CAMII, PHKD, PHKD2, LQT15, caM, calmodulin 2 (phosphorylase kinase, delta), calmodulin 2, CAMC, CAM1, CAMIII, CAM3, CALM, CALML2
External IDs	OMIM: 114182; HomoloGene: 134804; GeneCards: CALM2; OMA:CALM2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21 Start 47,160,084 bp[1] End 47,176,921 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 orbitofrontal cortex visceral pleura Pons lateral nuclear group of thalamus Occipital Lobe germinal epithelium parietal pleura prefrontal cortex n/a More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding protein binding adenylate cyclase binding adenylate cyclase activator activity calcium channel inhibitor activity protein kinase binding protein domain specific binding titin binding N-terminal myristoylation domain binding protein serine/threonine kinase activator activity transmembrane transporter binding metal ion binding protein phosphatase activator activity disordered domain specific binding nitric-oxide synthase regulator activity type 3 metabotropic glutamate receptor binding phosphatidylinositol 3-kinase binding protein N-terminus binding calcium-dependent protein binding nitric-oxide synthase binding Cellular component spindle pole nucleus cytoplasm centrosome microtubule organizing center spindle cytoskeleton spindle microtubule plasma membrane voltage-gated potassium channel complex sarcomere vesicle protein-containing complex calcium channel complex myelin sheath catalytic complex growth cone synaptic vesicle membrane mitochondrial membranes neuron projection Biological process G2/M transition of mitotic cell cycle regulation of heart rate detection of calcium ion G protein-coupled receptor signaling pathway positive regulation of peptidyl-threonine phosphorylation negative regulation of peptidyl-threonine phosphorylation regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion calcium-mediated signaling substantia nigra development positive regulation of protein autophosphorylation regulation of cytokinesis positive regulation of phosphoprotein phosphatase activity positive regulation of protein dephosphorylation positive regulation of DNA binding positive regulation of cyclic-nucleotide phosphodiesterase activity response to calcium ion regulation of cardiac muscle contraction negative regulation of ryanodine-sensitive calcium-release channel activity positive regulation of ryanodine-sensitive calcium-release channel activity positive regulation of protein serine/threonine kinase activity regulation of cell communication by electrical coupling involved in cardiac conduction response to amphetamine activation of adenylate cyclase activity positive regulation of nitric-oxide synthase activity response to corticosterone regulation of ryanodine-sensitive calcium-release channel activity establishment of protein localization to membrane establishment of protein localization to mitochondrial membrane regulation of synaptic vesicle endocytosis regulation of high voltage-gated calcium channel activity regulation of synaptic vesicle exocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 805 n/a Ensembl ENSG00000143933 n/a UniProt P0DP31 P0DP24 n/a RefSeq (mRNA) NM_001305624 NM_001305625 NM_001305626 NM_001743 n/a RefSeq (protein) NP_059022 NP_001350598 NP_001350599 NP_008819 NP_001292553 NP_001292554 NP_001292555 NP_001734 NP_001316850 NP_001316851 NP_001316852 NP_001316853 NP_001316854 NP_001316855 NP_005175 n/a Location (UCSC) Chr 2: 47.16 – 47.18 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Clinical significance

Mutations in CALM2 are associated with cardiac arrhythmias.^[6] In particular, several single-nucleotide polymorphisms of CALM2 have been reported as potential causes of sudden infant death syndrome. Due to their heritability, CALM2 mutations can affect multiple children in a family,^[7] and the discovery of the deadly consequences of these mutations has led to challenges against the murder convictions of mothers of multiple deceased infants, as in the case of Kathleen Folbigg, acquitted after more than 20 years imprisonment, in Australia.^[8]

Interactions

CALM2 has been shown to interact with AKAP9.^[9][10]