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] See more...

Aliases for MYL2 Gene

Aliases for MYL2 Gene

  • Myosin Light Chain 2 2 3 5
  • Myosin Regulatory Light Chain 2, Ventricular/Cardiac Muscle Isoform 3 4
  • 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
  • CMH10 2 3
  • 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
  • MYL2 5

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, Familial Hypertrophic, 10 and Hypertrophic Cardiomyopathy. Among its related pathways are Guidance Cues and Growth Cone Motility and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYL10.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL2 Gene

Genomics for MYL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J110918 Promoter/Enhancer 1.7 VISTA EPDnew Ensembl ENCODE dbSUPER 600.7 +1.3 1273 2.4 KDM1A SCRT2 BCOR ZNF768 FOS ZMYM3 MNT ZFP36 MYL2 lnc-MYL2-4 lnc-PPP1CC-3 CCDC63
GH12J110921 Enhancer 0.6 ENCODE dbSUPER 600.7 0.0 -49 0.2 ZIC2 NR3C1 BHLHE40 FOS MNT USF2 MYL2 lnc-MYL2-4 LINC01405 CUX2
GH12J110922 Enhancer 0.6 Ensembl dbSUPER 600.7 -1.6 -1558 0.8 POLR2A MNT ZFHX2 MYL2 LINC01405 CUX2
GH12J110580 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.4 +337.9 337920 5.4 HNRNPL PRDM10 SIX5 POLR2A RCOR2 BACH1 JUND LARP7 ZNF143 RELA PPTC7 MYL2 FAM216A ATP2A2 GPN3 GLTP ARPC3 lnc-TCTN1-1 TCTN1
GH12J111055 Enhancer 1.7 VISTA UCNEbase FANTOM5 ENCODE 9.8 -135.7 -135748 2.9 CREB1 ETV6 GABPA ZNF776 PKNOX1 ZNF600 KLF9 SP2 ELK1 CTBP1 ADAM1A ATXN2 IFT81 MAPKAPK5 PCNPP1 CUX2 BRAP ATXN2-AS ANAPC7 MYL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL2

Top Transcription factor binding sites by QIAGEN in the MYL2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • FOXL1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MyoD
  • RSRFC4
  • TBP

Genomic Locations for MYL2 Gene

Genomic Locations for MYL2 Gene
chr12:110,910,819-110,921,443
(GRCh38/hg38)
Size:
10,625 bases
Orientation:
Minus strand
chr12:111,348,623-111,358,526
(GRCh37/hg19)
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.

    Three dimensional structures from OCA and Proteopedia for MYL2 Gene

neXtProt entry for MYL2 Gene

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

No data available for DME Specific Peptides for MYL2 Gene

Domains & Families for MYL2 Gene

Gene Families for MYL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MYL2 Gene

Suggested Antigen Peptide Sequences for MYL2 Gene

GenScript: Design optimal peptide antigens:
  • Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLRV_HUMAN)
  • cDNA, FLJ92288, highly similar to Homo sapiens myosin, light polypeptide 2, regulatory, cardiac, slow (MYL2), mRNA (Q6IB42_HUMAN)
genes like me logo Genes that share domains with MYL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL2 Gene

Function for MYL2 Gene

Molecular function for MYL2 Gene

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).
GENATLAS Biochemistry:
myosin,light polypeptide 2,regulatory,cardiac,slow

Phenotypes From GWAS Catalog for MYL2 Gene

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 IEA,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

Human Phenotype Ontology for MYL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYL2 Gene

MGI Knock Outs for MYL2:
  • Myl2 Myl2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for MYL2 Gene

miRTarBase miRNAs that target MYL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL2

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYL2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IDA 17043135
GO:0015629 colocalizes_with actin cytoskeleton IDA 17043135
GO:0016459 myosin complex TAS 11102452
genes like me logo Genes that share ontologies with MYL2: view

Pathways & Interactions for MYL2 Gene

PathCards logo

SuperPathways for MYL2 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
3 PAK Pathway
.56
.56
.36
4 Dilated cardiomyopathy (DCM)
5 Actin Nucleation by ARP-WASP Complex
.66
.35
genes like me logo Genes that share pathways with MYL2: view

Pathways by source for MYL2 Gene

6 GeneGo (Thomson Reuters) pathways for MYL2 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
18 Qiagen pathways for MYL2 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
  • cAMP Pathway
1 GeneTex pathway for MYL2 Gene

SIGNOR curated interactions for MYL2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction ISS --
GO:0003007 heart morphogenesis IEA --
GO:0006942 regulation of striated muscle contraction TAS 8673105
GO:0007507 heart development IEA,ISS --
GO:0009791 post-embryonic development IEA --
genes like me logo Genes that share ontologies with MYL2: view

Drugs & Compounds for MYL2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 179
Brefeldin A Experimental Pharma Disrupts protein translocation to Golgi 0
Omecamtiv mecarbil Investigational Pharma Cardiac myosin activator 0
Calcium Nutra 6556
(-)-Blebbistatin Pharma Non muscle myosin II ATPase inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(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

(6) ApexBio Compounds for MYL2 Gene

Compound Action Cas Number
(-)-Blebbistatin Non muscle myosin II ATPase inhibitor 856925-71-8
BHQ 88-58-4
Brefeldin A 20350-15-6
Digoxin 20830-75-5
Omecamtiv mecarbil Cardiac myosin activator 873697-71-3
RBC8 361185-42-4
genes like me logo Genes that share compounds with MYL2: view

Drug Products

Transcripts for MYL2 Gene

mRNA/cDNA for MYL2 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL2

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

Expression for MYL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MYL2 Gene



Protein tissue co-expression partners for MYL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL2

SOURCE GeneReport for Unigene cluster for MYL2 Gene:

Hs.75535

Evidence on tissue expression from TISSUES for MYL2 Gene

  • Heart(5)
  • Muscle(5)
  • Liver(2.9)
  • Nervous system(2.8)
  • Blood(2.8)
  • Thyroid gland(2.5)
  • Kidney(2.3)
  • Intestine(2.2)
  • Lung(2.2)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MYL2: view

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
Oppossum
(Monodelphis domestica)
Mammalia MYL2 31
  • 97 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia MYL2 30
  • 93.57 (n)
Dog
(Canis familiaris)
Mammalia MYL2 30 31
  • 92.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYL2 30 31
  • 90.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myl2 30
  • 86.55 (n)
Mouse
(Mus musculus)
Mammalia Myl2 30 17 31
  • 85.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYL2 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYL2 30 31
  • 81.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYL2 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myl2 30
  • 80.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii myl2b 31
  • 86 (a)
OneToMany
LOC100537244 30
  • 80.32 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13110 30
Worm
(Caenorhabditis elegans)
Secernentea mlc-1 32
  • 48 (a)
mlc-2 32
  • 48 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11077 31
  • 57 (a)
ManyToMany
CSA.10194 31
  • 55 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5469 30
Species where no ortholog for MYL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYL2: view image

Paralogs for MYL2 Gene

Paralogs for MYL2 Gene

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

  • MLRV_HUMAN
  • G3V1V8_HUMAN
  • Q6IB42_HUMAN
genes like me logo Genes that share paralogs with MYL2: view

Variants for MYL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
626788 Likely Pathogenic: Cardiomyopathy 110,911,082(-) CCTTCT/C FRAMESHIFT_VARIANT
644658 Uncertain Significance: Familial hypertrophic cardiomyopathy 10 110,914,207(-) T/C MISSENSE_VARIANT
654375 Uncertain Significance: Cardiomyopathy; Familial hypertrophic cardiomyopathy 10 110,915,742(-) C/T MISSENSE_VARIANT
660510 Uncertain Significance: Familial hypertrophic cardiomyopathy 10 110,911,109(-) G/A MISSENSE_VARIANT
663432 Uncertain Significance: Familial hypertrophic cardiomyopathy 10 110,914,206(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYL2 Gene

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

Variant ID Type Subtype PubMed ID
esv3630744 CNV gain 21293372
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)

Additional Variant Information for MYL2 Gene

Human Gene Mutation Database (HGMD)
MYL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL2

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYL2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MYL2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for MYL2

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

No data available for Genatlas for MYL2 Gene

Publications for MYL2 Gene

  1. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) Møller DV … Køber L (European journal of human genetics : EJHG 2009) 3 23 41
  2. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PMID: 12404107) Kabaeva ZT … Osterziel KJ (European journal of human genetics : EJHG 2002) 3 4 41
  3. 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 (Journal of molecular medicine (Berlin, Germany) 1998) 3 4 23
  4. Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain. (PMID: 8287067) Wadgaonkar R … Siddiqui MA (Cellular & molecular biology research 1993) 3 4 23
  5. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PMID: 21909109) Kim YJ … Cho YS (Nature genetics 2011) 3 41

Products for MYL2 Gene

Sources for MYL2 Gene