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Aliases for MYL2 Gene

Aliases for MYL2 Gene

  • Myosin Light Chain 2 2 3 5
  • Myosin Light Chain 2, Slow Skeletal/Ventricular Muscle Isoform 3 4
  • Myosin, Light Polypeptide 2, Regulatory, Cardiac, Slow 2 3
  • Myosin, Light Chain 2, Regulatory, Cardiac, Slow 2 3
  • Cardiac Ventricular Myosin Light Chain 2 2 3
  • Ventricular Myosin Light Chain 2 3 4
  • Cardiac Myosin Light Chain 2 3 4
  • MLC-2s/V 3 4
  • MLC-2v 3 4
  • MLC-2 3 4
  • MLC2 3 4
  • Slow Cardiac Myosin Regulatory Light Chain 2 3
  • Regulatory Light Chain Of Myosin 3
  • RLC Of Myosin 3
  • CMH10 3

External Ids for MYL2 Gene

Previous GeneCards Identifiers for MYL2 Gene

  • GC12M110251
  • GC12M111026
  • GC12M111131
  • GC12M109760
  • GC12M109811
  • GC12M111348
  • GC12M108365

Summaries for MYL2 Gene

Entrez Gene Summary for MYL2 Gene

  • Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYL2 Gene

MYL2 (Myosin Light Chain 2) is a Protein Coding gene. Diseases associated with MYL2 include cardiomyopathy, hypertrophic, 10 and cardiomyopathy. Among its related pathways are Cardiac conduction and Stabilization and expansion of the E-cadherin adherens junction. GO annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYLPF.

UniProtKB/Swiss-Prot for MYL2 Gene

  • Contractile protein that plays a role in heart development and function (By similarity). 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).

Tocris Summary for MYL2 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYL2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYL2 Gene

Genomics for MYL2 Gene

Regulatory Elements for MYL2 Gene

Genomic Location for MYL2 Gene

Chromosome:
12
Start:
110,910,819 bp from pter
End:
110,920,722 bp from pter
Size:
9,904 bases
Orientation:
Minus strand

Genomic View for MYL2 Gene

Genes around MYL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYL2 Gene

Proteins for MYL2 Gene

  • Protein details for MYL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10916-MLRV_HUMAN
    Recommended name:
    Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
    Protein Accession:
    P10916
    Secondary Accessions:
    • Q16123

    Protein attributes for MYL2 Gene

    Size:
    166 amino acids
    Molecular mass:
    18789 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains. Interacts with MYOC (PubMed:11773029).
    Miscellaneous:
    • This chain binds calcium.

neXtProt entry for MYL2 Gene

Proteomics data for MYL2 Gene at MOPED

Post-translational modifications for MYL2 Gene

  • N-terminus is methylated by METTL11A/NTM1.
  • Phosphorylated by MYLK3 and MYLK2; promotes cardiac muscle contraction and function (By similarity). Dephosphorylated by PPP1CB complexed to PPP1R12B (By similarity). The phosphorylated form in adult is expressed as gradients across the heart from endocardium (low phosphorylation) to epicardium (high phosphorylation); regulates cardiac torsion and workload distribution (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MYL2

No data available for DME Specific Peptides for MYL2 Gene

Domains & Families for MYL2 Gene

Protein Domains for MYL2 Gene

Graphical View of Domain Structure for InterPro Entry

P10916

UniProtKB/Swiss-Prot:

MLRV_HUMAN :
  • Contains 3 EF-hand domains.
Domain:
  • Contains 3 EF-hand domains.
genes like me logo Genes that share domains with MYL2: view

Function for MYL2 Gene

Molecular function for MYL2 Gene

GENATLAS Biochemistry:
myosin,light polypeptide 2,regulatory,cardiac,slow
UniProtKB/Swiss-Prot Function:
Contractile protein that plays a role in heart development and function (By similarity). 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).
genes like me logo Genes that share phenotypes with MYL2: view

Human Phenotype Ontology for MYL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MYL2 Gene

miRTarBase miRNAs that target MYL2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MYL2 Gene

Localization for MYL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYL2 Gene

Cytoplasm, myofibril, sarcomere, A band.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYL2 Gene COMPARTMENTS Subcellular localization image for MYL2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016459 myosin complex TAS 11102452
genes like me logo Genes that share ontologies with MYL2: view

Pathways & Interactions for MYL2 Gene

genes like me logo Genes that share pathways with MYL2: view

Gene Ontology (GO) - Biological Process for MYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis IEA --
GO:0006942 regulation of striated muscle contraction TAS 8673105
GO:0030308 negative regulation of cell growth IMP 15824735
GO:0055003 cardiac myofibril assembly IEA,ISS --
GO:0060047 heart contraction IEA,ISS --
genes like me logo Genes that share ontologies with MYL2: view

No data available for SIGNOR curated interactions for MYL2 Gene

Drugs & Compounds for MYL2 Gene

(3) Drugs for MYL2 Gene - From: ApexBio, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
Omecamtiv mecarbil Pharma Cardiac myosin activator 0

(6) Additional Compounds for MYL2 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(R)-(+)-Blebbistatin
1177356-70-5
(S)-(-)-Blebbistatin
856925-71-8
ML 9 hydrochloride
105637-50-1
W-7 hydrochloride
61714-27-0
genes like me logo Genes that share compounds with MYL2: view

Transcripts for MYL2 Gene

mRNA/cDNA for MYL2 Gene

Unigene Clusters for MYL2 Gene

Myosin, light chain 2, regulatory, cardiac, slow:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYL2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1: - -
SP2: - -
SP3:

Relevant External Links for MYL2 Gene

GeneLoc Exon Structure for
MYL2
ECgene alternative splicing isoforms for
MYL2

Expression for MYL2 Gene

mRNA expression in normal human tissues for MYL2 Gene

mRNA differential expression in normal tissues according to GTEx for MYL2 Gene

This gene is overexpressed in Heart - Left Ventricle (x32.3) and Muscle - Skeletal (x19.6).

Protein differential expression in normal tissues from HIPED for MYL2 Gene

This gene is overexpressed in Heart (40.7), Fetal heart (15.6), and Esophagus (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYL2 Gene



SOURCE GeneReport for Unigene cluster for MYL2 Gene Hs.75535

genes like me logo Genes that share expression patterns with MYL2: view

Protein tissue co-expression partners for MYL2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MYL2 Gene

Orthologs for MYL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYL2 35
  • 93.57 (n)
  • 91.57 (a)
cow
(Bos Taurus)
Mammalia MYL2 36
  • 96 (a)
OneToOne
MYL2 35
  • 90.16 (n)
  • 95.18 (a)
dog
(Canis familiaris)
Mammalia MYL2 35
  • 92.17 (n)
  • 97.59 (a)
MYL2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myl2 16
Myl2 35
  • 85.34 (n)
  • 96.39 (a)
Myl2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYL2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYL2 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myl2 35
  • 86.55 (n)
  • 95.78 (a)
chicken
(Gallus gallus)
Aves MYL2 35
  • 81.21 (n)
  • 90.91 (a)
MYL2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYL2 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myl2 35
  • 80.12 (n)
  • 89.16 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13110 35
zebrafish
(Danio rerio)
Actinopterygii myl2b 36
  • 86 (a)
OneToMany
LOC100537244 35
  • 80.32 (n)
  • 89.76 (a)
worm
(Caenorhabditis elegans)
Secernentea mlc-1 37
  • 48 (a)
mlc-2 37
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5469 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10194 36
  • 55 (a)
ManyToMany
CSA.11077 36
  • 57 (a)
ManyToMany
Species with no ortholog for MYL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYL2 Gene

ENSEMBL:
Gene Tree for MYL2 (if available)
TreeFam:
Gene Tree for MYL2 (if available)

Paralogs for MYL2 Gene

Paralogs for MYL2 Gene

(16) SIMAP similar genes for MYL2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MYL2: view

Variants for MYL2 Gene

Sequence variations from dbSNP and Humsavar for MYL2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs104894363 Cardiomyopathy, familial hypertrophic 10 (CMH10) 110,919,160(-) GGGGC(A/G)CCAAC reference, missense
VAR_004602 Cardiomyopathy, familial hypertrophic 10 (CMH10)
VAR_004603 Cardiomyopathy, familial hypertrophic 10 (CMH10)
VAR_004604 Cardiomyopathy, familial hypertrophic 10 (CMH10)
VAR_004605 Cardiomyopathy, familial hypertrophic 10 (CMH10)

Structural Variations from Database of Genomic Variants (DGV) for MYL2 Gene

Variant ID Type Subtype PubMed ID
nsv7236 OTHER Inversion 18451855

Variation tolerance for MYL2 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYL2 Gene

HapMap Linkage Disequilibrium report
MYL2
Human Gene Mutation Database (HGMD)
MYL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL2 Gene

Disorders for MYL2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for MYL2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 10
  • cardiomyopathy, familial hypertrophic, 10
cardiomyopathy
  • cardiomyopathies
congenital fiber-type disproportion
  • cftdm
myl2-related familial hypertrophic cardiomyopathy
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search MYL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MLRV_HUMAN
  • Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269 PubMed:11102452, ECO:0000269 PubMed:12404107, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12818575, ECO:0000269 PubMed:8673105, ECO:0000269 PubMed:9535554}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYL2

Genetic Association Database (GAD)
MYL2
Human Genome Epidemiology (HuGE) Navigator
MYL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYL2
genes like me logo Genes that share disorders with MYL2: view

No data available for Genatlas for MYL2 Gene

Publications for MYL2 Gene

  1. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PMID: 12404107) Kabaeva Z.T. … Osterziel K.J. (Eur. J. Hum. Genet. 2002) 3 4 48 67
  2. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) MA … ber L. (Eur. J. Hum. Genet. 2009) 3 23
  3. Deleted in liver cancer 1 (DLC1) negatively regulates Rho/ROCK/MLC pathway in hepatocellular carcinoma. (PMID: 18648664) Wong C.C. … Ng I.O. (PLoS ONE 2008) 3 23
  4. A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart. (PMID: 17885681) Seguchi O. … Kitakaze M. (J. Clin. Invest. 2007) 3 23
  5. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. (PMID: 9535554) Flavigny J. … Hainque B. (J. Mol. Med. 1998) 3 23

Products for MYL2 Gene

Sources for MYL2 Gene

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