Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

UniProt P10916 Organism Homo sapiens Gene MLC2, MYL2

Also known as: MLC2, MYL2

Function

Contractile protein that plays a role in heart development and function. Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity).

Classification

Family (Pfam): PF13499 EF-hand_7
InterPro: EF-hand-dom_pair, EF_Hand_1_Ca_BS, EF_hand_dom, Myosin_RLC
Functional cluster: Ribosomal Protein L12 & Acyl Carriers

Experimental structures · PDB · 3

5TBY EM 20.00A
8ACT EM 3.60A
8G4L EM 6.40A

A predicted model is available from AlphaFold.

Gene Ontology · 22

Disease associations

hypertrophic cardiomyopathy 10 MONDO:0012112
myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy MONDO:0859168

Drugs targeting this protein · 3

OMECAMTIV MECARBIL activator
MAVACAMTEN inhibitor
DANICAMTIV activator

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform 2 shared papers
Myosin light chain 3 3 shared papers
Myocilin 1 shared papers
Myosin-binding protein C, cardiac-type 2 shared papers
Myosin-7 2 shared papers
Fatty acid-binding protein, heart 1 shared papers
Troponin T, cardiac muscle 2 shared papers
Troponin I, cardiac muscle 1 shared papers
Superoxide dismutase [Mn], mitochondrial 1 shared papers
Cytochrome c oxidase subunit 5A, mitochondrial 1 shared papers
Serotransferrin 1 shared papers
ATP synthase F(1) complex subunit alpha, mitochondrial 1 shared papers

Literature · 15 cited papers

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. · 2020
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain · 2013
A novel, in-solution separation of endogenous cardiac sarcomeric proteins and identification of distinct charged variants of regulatory light chain. Mol. Cell. Proteomics · 2010
Cardiac myosin is a substrate for zipper-interacting protein kinase (ZIPK). J. Biol. Chem. · 2010
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J. Mol. Cell. Cardiol. · 2003
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation · 2003
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. Eur. J. Hum. Genet. · 2002
Protein interactions with myocilin. Invest. Ophthalmol. Vis. Sci. · 2002
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. J. Biol. Chem. · 2001
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J. Mol. Med. · 1998
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat. Genet. · 1996
… and 3 more in the literature graph

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