CALM2 explained
Calmodulin 2 is a protein that in humans is encoded by the CALM2 gene.[1] [2] 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.[3]
Clinical significance
Mutations in CALM2 are associated with cardiac arrhythmias.[4] 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,[5] 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.[6]
Interactions
CALM2 has been shown to interact with AKAP9.[7] [8]
Further reading
- Zhang M, Yuan T . Molecular mechanisms of calmodulin's functional versatility . Biochemistry and Cell Biology . 76 . 2–3 . 313–323 . 1998 . 9923700 . 10.1139/bcb-76-2-3-313 .
- Gusev NB . Some properties of caldesmon and calponin and the participation of these proteins in regulation of smooth muscle contraction and cytoskeleton formation . Biochemistry. Biokhimiia . 66 . 10 . 1112–1121 . October 2001 . 11736632 . 10.1023/A:1012480829618 . 310781 .
- Benaim G, Villalobo A . Phosphorylation of calmodulin. Functional implications . European Journal of Biochemistry . 269 . 15 . 3619–3631 . August 2002 . 12153558 . 10.1046/j.1432-1033.2002.03038.x . free . 10261/79981 . free .
- Koller M, Schnyder B, Strehler EE . Structural organization of the human CaMIII calmodulin gene . Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression . 1087 . 2 . 180–189 . October 1990 . 2223880 . 10.1016/0167-4781(90)90203-e .
- Baudier J, Mochly-Rosen D, Newton A, Lee SH, Koshland DE, Cole RD . Comparison of S100b protein with calmodulin: interactions with melittin and microtubule-associated tau proteins and inhibition of phosphorylation of tau proteins by protein kinase C . Biochemistry . 26 . 10 . 2886–2893 . May 1987 . 3111527 . 10.1021/bi00384a033 .
- Matoba R, Okubo K, Hori N, Fukushima A, Matsubara K . The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression . Gene . 146 . 2 . 199–207 . September 1994 . 8076819 . 10.1016/0378-1119(94)90293-3 .
- Srinivas SK, Srinivas RV, Anantharamaiah GM, Compans RW, Segrest JP . Cytosolic domain of the human immunodeficiency virus envelope glycoproteins binds to calmodulin and inhibits calmodulin-regulated proteins . The Journal of Biological Chemistry . 268 . 30 . 22895–22899 . October 1993 . 8226798 . 10.1016/S0021-9258(18)41610-9 . free .
- Miller MA, Mietzner TA, Cloyd MW, Robey WG, Montelaro RC . Identification of a calmodulin-binding and inhibitory peptide domain in the HIV-1 transmembrane glycoprotein . AIDS Research and Human Retroviruses . 9 . 11 . 1057–1066 . November 1993 . 8312049 . 10.1089/aid.1993.9.1057 .
- Radding W, Pan ZQ, Hunter E, Johnston P, Williams JP, McDonald JM . Expression of HIV-1 envelope glycoprotein alters cellular calmodulin . Biochemical and Biophysical Research Communications . 218 . 1 . 192–197 . January 1996 . 8573130 . 10.1006/bbrc.1996.0034 .
- Pan Z, Radding W, Zhou T, Hunter E, Mountz J, McDonald JM . Role of calmodulin in HIV-potentiated Fas-mediated apoptosis . The American Journal of Pathology . 149 . 3 . 903–910 . September 1996 . 8780394 . 1865159 .
- Sasaki M, Uchiyama J, Ishikawa H, Matsushita S, Kimura G, Nomoto K, Koga Y . Induction of apoptosis by calmodulin-dependent intracellular Ca2+ elevation in CD4+ cells expressing gp 160 of HIV . Virology . 224 . 1 . 18–24 . October 1996 . 8862395 . 10.1006/viro.1996.0502 . free .
- Brigino E, Haraguchi S, Koutsonikolis A, Cianciolo GJ, Owens U, Good RA, Day NK . Interleukin 10 is induced by recombinant HIV-1 Nef protein involving the calcium/calmodulin-dependent phosphodiesterase signal transduction pathway . Proceedings of the National Academy of Sciences of the United States of America . 94 . 7 . 3178–3182 . April 1997 . 9096366 . 20342 . 10.1073/pnas.94.7.3178 . 1997PNAS...94.3178B . free .
- Minakami R, Jinnai N, Sugiyama H . Phosphorylation and calmodulin binding of the metabotropic glutamate receptor subtype 5 (mGluR5) are antagonistic in vitro . The Journal of Biological Chemistry . 272 . 32 . 20291–20298 . August 1997 . 9242710 . 10.1074/jbc.272.32.20291 . free.
- Miyawaki A, Llopis J, Heim R, McCaffery JM, Adams JA, Ikura M, Tsien RY . Fluorescent indicators for Ca2+ based on green fluorescent proteins and calmodulin . Nature . 388 . 6645 . 882–887 . August 1997 . 9278050 . 10.1038/42264 . 13745050 . free .
- Malvoisin E, Wild F . Inhibition of HIV-1, HIV-2 and SIV envelope glycoprotein-mediated cell fusion by calmodulin . Virus Research . 50 . 2 . 119–127 . August 1997 . 9282777 . 10.1016/S0168-1702(97)00060-9 .
- Martoglio B, Graf R, Dobberstein B . Signal peptide fragments of preprolactin and HIV-1 p-gp160 interact with calmodulin . The EMBO Journal . 16 . 22 . 6636–6645 . November 1997 . 9362478 . 1170268 . 10.1093/emboj/16.22.6636 .
- Ishikawa H, Sasaki M, Noda S, Koga Y . Apoptosis induction by the binding of the carboxyl terminus of human immunodeficiency virus type 1 gp160 to calmodulin . Journal of Virology . 72 . 8 . 6574–6580 . August 1998 . 9658102 . 109834 . 10.1128/JVI.72.8.6574-6580.1998 .
- Toutenhoofd SL, Foletti D, Wicki R, Rhyner JA, Garcia F, Tolon R, Strehler EE . Characterization of the human CALM2 calmodulin gene and comparison of the transcriptional activity of CALM1, CALM2 and CALM3 . Cell Calcium . 23 . 5 . 323–338 . May 1998 . 9681195 . 10.1016/S0143-4160(98)90028-8 .
Notes and References
- Web site: Entrez Gene: CALM2 Calmodulin 2 (phosphorylase kinase, delta).
- SenGupta B, Friedberg F, Detera-Wadleigh SD . Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species . The Journal of Biological Chemistry . 262 . 34 . 16663–16670 . December 1987 . 2445749 . 10.1016/S0021-9258(18)49306-4 . free .
- Web site: Entry - *114205 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C - OMIM . 2023-06-01 . omim.org . en-us.
- Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL . 6 . Novel calmodulin mutations associated with congenital arrhythmia susceptibility . Circulation: Cardiovascular Genetics . 7 . 4 . 466–474 . August 2014 . 24917665 . 4140998 . 10.1161/CIRCGENETICS.113.000459 .
- Brohus M, Arsov T, Wallace DA, Jensen HH, Nyegaard M, Crotti L, Adamski M, Zhang Y, Field MA, Athanasopoulos V, Baró I, Ribeiro de Oliveira-Mendes BB, Redon R, Charpentier F, Raju H, DiSilvestre D, Wei J, Wang R, Rafehi H, Kaspi A, Bahlo M, Dick IE, Chen SR, Cook MC, Vinuesa CG, Overgaard MT, Schwartz PJ . 6 . Infanticide vs. inherited cardiac arrhythmias . Europace . 23 . 3 . 441–450 . March 2021 . 33200177 . 7947592 . 10.1093/europace/euaa272 . European Heart Rhythm Association . Volume 23, Issue 3 . 17 November 2020 .
- Schwartz O . 4 Dead Infants, a Convicted Mother, and a Genetic Mystery . en-US . Wired . 2023-06-01 . 1059-1028.
- Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y . Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex . Molecular Biology of the Cell . 13 . 9 . 3235–3245 . September 2002 . 12221128 . 124155 . 10.1091/mbc.E02-02-0112 .
- Berchtold MW, Egli R, Rhyner JA, Hameister H, Strehler EE . Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3 . Genomics . 16 . 2 . 461–465 . May 1993 . 8314583 . 10.1006/geno.1993.1211 .