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Aliases for MYL2 Gene

Aliases for MYL2 Gene

  • Myosin, Light Chain 2, Regulatory, Cardiac, Slow 2 3
  • Myosin, Light Polypeptide 2, Regulatory, Cardiac, Slow 2 3
  • Cardiac Ventricular Myosin Light Chain 2 2 3
  • MLC-2v 3 4
  • MLC-2 3 4
  • CMH10 3 6
  • Myosin Regulatory Light Chain 2, Ventricular/Cardiac Muscle Isoform 3
  • Slow Cardiac Myosin Regulatory Light Chain 2 3
  • Regulatory Light Chain Of Myosin 3
  • Myosin Light Chain 2 3
  • RLC Of Myosin 3
  • MLC2 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, Regulatory, Cardiac, Slow) is a Protein Coding gene. Diseases associated with MYL2 include cardiomyopathy, familial hypertrophic, 10 and myl2-related familial hypertrophic cardiomyopathy. Among its related pathways are RhoGDI Pathway and Regulation of actin cytoskeleton. GO annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYL12A.

Tocris Summary for MYL2 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.

Gene Wiki entry for MYL2 Gene

No data available for UniProtKB/Swiss-Prot , 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    Miscellaneous:
    • This chain binds calcium

neXtProt entry for MYL2 Gene

Proteomics data for MYL2 Gene at MOPED

Post-translational modifications for MYL2 Gene

Other Protein References for MYL2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL2 Gene

Domains for MYL2 Gene

Gene Families for MYL2 Gene

HGNC:
  • EFHAND :EF-hand domain containing
  • MYL :Myosins / Light chain

Protein Domains for MYL2 Gene

Graphical View of Domain Structure for InterPro Entry

P10916

UniProtKB/Swiss-Prot:

MLRV_HUMAN :
  • P10916
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

Gene Ontology (GO) - Molecular Function for MYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IDA 9180271
GO:0005509 calcium ion binding IDA 11102452
GO:0005515 protein binding IPI 11773029
GO:0008307 structural constituent of muscle NAS 17885681
GO:0032036 myosin heavy chain binding NAS 8287067
genes like me logo Genes that share ontologies with MYL2: view
genes like me logo Genes that share phenotypes with MYL2: view

Animal Model Products

CRISPR Products

miRNA for MYL2 Gene

miRTarBase miRNAs that target MYL2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYL2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
cytosol 4
nucleus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IDA 17043135
GO:0015629 colocalizes_with actin cytoskeleton IDA 17043135
GO:0016459 myosin complex TAS 11102452
GO:0030016 myofibril NAS 8287067
genes like me logo Genes that share ontologies with MYL2: view

Pathways 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 --
GO:0006942 regulation of striated muscle contraction TAS 8673105
GO:0007507 heart development --
GO:0009791 post-embryonic development IEA --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with MYL2: view

Compounds for MYL2 Gene

(4) Tocris Compounds for MYL2 Gene

Compound Action Cas Number
(�)-Blebbistatin Selective inhibitor of myosin II ATPase activity [674289-55-5]
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (�)-blebbistatin (Cat. No. 1760) [1177356-70-5]
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (�)-blebbistatin (Cat. No. 1760) [856925-71-8]
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity [1576-37-0]

(1) HMDB Compounds for MYL2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(3) Novoseek inferred chemical compound relationships for MYL2 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 10.1 3
calcium 0 1
potassium 0 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYL2

Primer Products

Flow Cytometry Products

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 (32.3) and Muscle - Skeletal (19.6).

Integrated Proteomics: protein expression 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 expressions with MYL2: view

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 35
  • 90.16 (n)
  • 95.18 (a)
MYL2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYL2 35
  • 92.17 (n)
  • 97.59 (a)
MYL2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myl2 35
  • 85.34 (n)
  • 96.39 (a)
Myl2 16
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 LOC100537244 35
  • 80.32 (n)
  • 89.76 (a)
myl2b 36
  • 86 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mlc-2 37
  • 48 (a)
mlc-1 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

Selected 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 MAF
rs4683 -- 110,911,160(-) TGTTC(A/G)CCGCC missense, reference
rs14880 -- 110,910,941(-) ATCTT(C/T)TTTGC utr-variant-3-prime
rs14881 -- 110,910,995(-) CNTCT(G/T)TCCCT utr-variant-3-prime
rs916164 -- 110,913,795(-) GGCCT(G/T)GGTAA intron-variant
rs928999 -- 110,911,609(-) GAGGG(C/T)CCTTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7236 OTHER Inversion 18451855

Relevant External Links for MYL2 Gene

HapMap Linkage Disequilibrium report
MYL2
Human Gene Mutation Database (HGMD)
MYL2
Locus Specific Mutation Databases (LSDB)
MYL2

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

Disorders for MYL2 Gene

(1) OMIM Diseases for MYL2 Gene (160781)

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: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.

(1) University of Copenhagen DISEASES for MYL2 Gene

(3) Novoseek inferred disease relationships for MYL2 Gene

Disease -log(P) Hits PubMed IDs
cardiomyopathy 46.2 2
hypertrophy 33.6 1
cardiac hypertrophy 23.7 3

Relevant External Links for MYL2

GeneTests
MYL2
GeneReviews
MYL2
Genetic Association Database (GAD)
MYL2
Human Genome Epidemiology (HuGE) Navigator
MYL2
genes like me logo Genes that share disorders with MYL2: view

Publications for MYL2 Gene

  1. 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 4 23
  2. Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain. (PMID: 8287067) Wadgaonkar R. … Siddiqui M.A. (Cell. Mol. Biol. Res. 1993) 3 4 23
  3. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) MA … ber L. (Eur. J. Hum. Genet. 2009) 3 23 48
  4. 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
  5. Protein interactions with myocilin. (PMID: 11773029) Wentz-Hunter K. … Yue B.Y. (Invest. Ophthalmol. Vis. Sci. 2002) 3 4

Products for MYL2 Gene

Sources for MYL2 Gene

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