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    MYL2 myosin light chain 2 [ Homo sapiens (human) ]

    Gene ID: 4633, updated on 12-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.

    Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.
    Dong Y, Wang J, Yang C, Bao J, Liu X, Chen H, Zhang X, Shi W, Zhang L, Qi Q, Li Y, Wang S, Ma R, Cong B, Zhang G., Free PMC Article

    03/20/2024
    FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.

    FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.
    Tsuji-Tamura K, Ogawa M.

    10/26/2023
    Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.

    Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.
    Yuan CC, Kazmierczak K, Liang J, Ma W, Irving TC, Szczesna-Cordary D., Free PMC Article

    03/19/2022
    Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.

    Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
    Chao F, Song Z, Wang S, Ma Z, Zhuo Z, Meng T, Xu G, Chen G., Free PMC Article

    01/15/2022
    Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.

    Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.
    De Bortoli M, Vio R, Basso C, Calore M, Minervini G, Angelini A, Melacini P, Vitiello L, Vazza G, Thiene G, Tosatto S, Corrado D, Iliceto S, Rampazzo A, Calore C.

    06/5/2021
    Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2.

    Cardiac MLC2 kinase is localized to the Z-disc and interacts with α-actinin2.
    X Cai L, Tanada Y, D Bello G, C Fleming J, F Alkassis F, Ladd T, Golde T, Koh J, Chen S, Kasahara H., Free PMC Article

    10/31/2020
    An autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile Hypertrophic cardiomyopathy highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy.

    Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
    Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V., Free PMC Article

    08/1/2020
    Induced pluripotent stem cell-derived cardiomyocytes from a patient with MYL2-R58Q-mediated apical hypertrophic cardiomyopathy show cardiac hypertrophy, myofibrillar disarray, impairment of the intracellular Ca2+ homeostasis and delayed decay time, reduced Ca2+ current density, and arrhythmia.

    Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.
    Zhou W, Bos JM, Ye D, Tester DJ, Hrstka S, Maleszewski JJ, Ommen SR, Nishimura RA, Schaff HV, Kim CS, Ackerman MJ.

    06/6/2020
    Using transgenic mice with cardiac-specific expression of human R58Q-RLC mutant, we sought to determine whether the hypertrophic cardiomyopathy phenotype observed in papillary muscles (PMs) of R58Q mice is also manifested in slow-twitch soleus (SOL) muscles. Consistent with SOL muscle abnormalities in R58Q vs. wild-type mice, myosin ATPase staining showed a decreased proportion of fiber type I/type II only in SOL muscles.

    Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
    Kazmierczak K, Liang J, Yuan CC, Yadav S, Sitbon YH, Walz K, Ma W, Irving TC, Cheah JX, Gomes AV, Szczesna-Cordary D., Free PMC Article

    11/23/2019
    The study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians.

    A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
    Rani DS, Nallari P, Rani J, Nizamuddin S, Seelamneni T, Narasimhan C, Thangaraj K.

    09/14/2019
    R58Q of myosin regulatory light chain promotes an OFF state of the thick filaments that reduces the number of myosin head domains that are available for actin interaction and ATP utilization.

    Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle.
    Kampourakis T, Ponnam S, Irving M., Free PMC Article

    06/23/2019
    The hypocontractile activity of D94A MYL-2 mutant resulted in the rightward shift of the force-pCa dependence and decreased actin-activated myosin ATPase activity.

    Sarcomeric perturbations of myosin motors lead to dilated cardiomyopathy in genetically modified MYL2 mice.
    Yuan CC, Kazmierczak K, Liang J, Zhou Z, Yadav S, Gomes AV, Irving TC, Szczesna-Cordary D., Free PMC Article

    11/3/2018
    These results indicate shear stress induced vascular smooth muscle cell contraction was mediated by cell surface glycocalyx via a ROCK-MLC phosphatase (MLCP) pathway, providing evidence of the glycocalyx mechanotransduction in myogenic response.

    Vascular smooth muscle cell glycocalyx mediates shear stress-induced contractile responses via a Rho kinase (ROCK)-myosin light chain phosphatase (MLCP) pathway.
    Kang H, Liu J, Sun A, Liu X, Fan Y, Deng X., Free PMC Article

    10/27/2018
    The results show that the MYL2 mutation c.64G > A on its own is incapable of triggering clinical HCM in most carriers. However, the presence of an additional risk factor for hypertrophy, particularly hypertension, adds to the development of HCM.

    Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
    Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, Barrois YE, Janssen JW, Paulussen AD, Sels JW, Kuijpers SH, van Tintelen JP, van den Berg MP, Heesen WF, Garcia-Pavia P, Perrot A, Christiaans I, Salemink S, Marcelis CL, Smeets HJ, Brunner HG, Volders PG, van den Wijngaard A.

    01/27/2018
    Our study provides the first evidence that miR-223 can regulate pulmonary artery smooth muscle cells proliferation, migration, and actomyosin reorganization through its novel targets, RhoB and MLC2, resulting in vascular remodeling and the development of pulmonary arterial hypertension.

    Two types of interneurons in the mouse lateral geniculate nucleus are characterized by different h-current density.
    Leist M, Datunashvilli M, Kanyshkova T, Zobeiri M, Aissaoui A, Cerina M, Romanelli MN, Pape HC, Budde T., Free PMC Article

    01/20/2018
    NKX2-5 and MLC2v double-positive cells possess ventricular-like properties. The results demonstrate that the NKX2-5(eGFP/w) and MLC2v(mCherry/w) hPSCs provide a powerful model system to capture region-specific cardiac differentiation from early to late stages. Our study would facilitate subtype-specific cardiac development and functional analysis using the hPSC-derived sources.

    Isolation and characterization of ventricular-like cells derived from NKX2-5(eGFP/w) and MLC2v(mCherry/w) double knock-in human pluripotent stem cells.
    Yamauchi K, Li J, Morikawa K, Liu L, Shirayoshi Y, Nakatsuji N, Elliott DA, Hisatome I, Suemori H.

    12/30/2017
    This exome-wide association study indicated that C12orf51 rs11066280, MYL2 rs12229654, and ALDH2 rs671 polymorphisms are linked to blood Pb levels in the Korean population.

    Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population.
    Eom SY, Hwang MS, Lim JA, Choi BS, Kwon HJ, Park JD, Kim YD, Kim H., Free PMC Article

    10/7/2017
    differential regulation of PKA and cell stiffness in unconfined versus confined cells is abrogated by dual, but not individual, inhibition of Piezo1 and myosin II.

    Confinement Sensing and Signal Optimization via Piezo1/PKA and Myosin II Pathways.
    Hung WC, Yang JR, Yankaskas CL, Wong BS, Wu PH, Pardo-Pastor C, Serra SA, Chiang MJ, Gu Z, Wirtz D, Valverde MA, Yang JT, Zhang J, Konstantopoulos K., Free PMC Article

    09/30/2017
    Mutation in myosin regulatory light chain gene is associated with defective myosin motor function that ultimately result in pathological hypertrophic remodeling.

    Cardiac contractility, motor function, and cross-bridge kinetics in N47K-RLC mutant mice.
    Wang L, Kazmierczak K, Yuan CC, Yadav S, Kawai M, Szczesna-Cordary D., Free PMC Article

    09/16/2017
    Lipolysis-stimulated lipoprotein receptors (LSRs) localized to bicellular junctions in association with myosin regulatory light chain 2 (MRLC2) at low cell densities and to tricellular contacts when myosin phosphatase target subunit 1 (MYPT1) localized to the bicellular regions.

    The bicellular tensile force sorts the localization of LSRs in bicellular and tricellular junctions.
    Kohno T, Kikuchi S, Ninomiya T, Kojima T.

    08/26/2017
    Structural dynamics-based approach reveals that the E56G mutation in human ventricular essential light chain affects the structure of the actin-myosin complex in the presence of ATP. The mutation increases the population in the S structural state (increasing the duty ratio), and changes the structure of the W state, so that it more closely resembles the S state.

    A Cardiomyopathy Mutation in the Myosin Essential Light Chain Alters Actomyosin Structure.
    Guhathakurta P, Prochniewicz E, Roopnarine O, Rohde JA, Thomas DD., Free PMC Article

    08/26/2017
    Two siblings with hypertrophic cardiomyopathy had the pathogenic variant p.Ala13Thr variant in MYL2.

    A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.
    Li L, Bainbridge MN, Tan Y, Willerson JT, Marian AJ., Free PMC Article

    05/6/2017
    the MYL2 gene on chromosome 12 is associated with serum HDL-C levels in Korean men. The association was much stronger in male obese subjects and smokers than that in leaner nonsmoking male subjects.

    Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean men.
    Cho ER, Jee YH, Kim SW, Sull JW.

    04/8/2017
    FLNb enhances invasion of cancer cells through phosphorylation of MRLC and FAK.

    Filamin B Enhances the Invasiveness of Cancer Cells into 3D Collagen Matrices.
    Iguchi Y, Ishihara S, Uchida Y, Tajima K, Mizutani T, Kawabata K, Haga H.

    04/9/2016
    Ostf1b could constitutively activate the Rho kinase 1 (ROCK1) and myosin light chain 2 (MLC2) signalling pathway that promotes cell migration, epithelial mesenchymal transition (EMT) and cytoskeletal dynamics through stress fibre formation.

    Osmotic stress transcription factor 1b (Ostf1b) promotes migration properties with the modulation of epithelial mesenchymal transition (EMT) phenotype in human embryonic kidney cell.
    Lai KP, Law AY, Lau MC, Takei Y, Tse WK, Wong CK.

    03/2/2016
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