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MYL2 Gene

protein-coding   GIFtS: 70
GCID: GC12M111348

Myosin, Light Chain 2, Regulatory, Cardiac, Slow

(Previous names: myosin, light polypeptide 2, regulatory, cardiac, slow)
  See MYL2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Light Chain 2, Regulatory, Cardiac, Slow1 2     MLC22
Myosin, Light Polypeptide 2, Regulatory, Cardiac, Slow1 2     Myosin Light Chain 22
Cardiac Ventricular Myosin Light Chain 21 2     Myosin Regulatory Light Chain 2, Ventricular/Cardiac Muscle Isoform2
MLC-22 3     Regulatory Light Chain Of Myosin2
MLC-2v2 3     RLC Of Myosin2
CMH102 5     Slow Cardiac Myosin Regulatory Light Chain 22

External Ids:    HGNC: 75831   Entrez Gene: 46332   Ensembl: ENSG000001112457   OMIM: 1607815   UniProtKB: P109163   

Export aliases for MYL2 gene to outside databases

Previous GC identifers: GC12M110251 GC12M111026 GC12M111131 GC12M109760 GC12M109811 GC12M108365


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include actin monomer binding and calcium ion binding. An important paralog of this gene is MYL12A.

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYL2 gene promoter:
         TBP   AP-1   ATF-2   MyoD   Meis-1b   FOXL1   c-Jun   Meis-1a   RSRFC4   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYL2 promoter sequence
   Search Chromatin IP Primers for MYL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.11

MYL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M111348:  view genomic region     (about GC identifiers)

Start:
111,348,623 bp from pter      End:
111,358,526 bp from pter
Size:
9,904 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916 (See protein sequence)
Recommended Name: Myosin regulatory light chain 2, ventricular/cardiac muscle isoform  
Size: 166 amino acids; 18789 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Miscellaneous: This chain binds calcium
Secondary accessions: Q16123

Explore the universe of human proteins at neXtProt for MYL2: NX_P10916

Explore proteomics data for MYL2 at MOPED

Post-translational modifications: 

  • N-terminus is methylated by METTL11A/NTM1 (By similarity)1
  • Phosphorylated by MYLK3 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000423.2  
    ENSEMBL proteins: 
     ENSP00000228841   ENSP00000447154  
    Reactome Protein details: P10916

    MYL2 Human Recombinant Protein Products:

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    antibodies-online peptides for MYL2

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    antibodies-online kits for MYL2 (11 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing
    MYL: Myosins / Light chain

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P10916

    ProtoNet protein and cluster: P10916

    UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916
    Similarity: Contains 3 EF-hand domains


    Find genes that share domains with MYL2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for MYL2:
    myosin,light polypeptide 2,regulatory,cardiac,slow

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003785actin monomer binding IDA9180271
    GO:0005509calcium ion binding IDA11102452
    GO:0005515protein binding IPI11773029
    GO:0008307structural constituent of muscle NAS17885681
    GO:0032036myosin heavy chain binding NAS8287067
         
    Find genes that share ontologies with MYL2           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Myl2):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 
     normal  pigmentation  respiratory system 

    Find genes that share phenotypes with MYL2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MYL2

    miRNA
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    miRTarBase miRNAs that target MYL2:
    hsa-mir-99a-5p (MIRT048671)

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    hsa-miR-876-5p hsa-miR-3167
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MLRV_HUMAN, P10916: Cytoplasm, myofibril, sarcomere, A band (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IDA17043135
    GO:0015629colocalizes with actin cytoskeleton IDA17043135
    GO:0016459myosin complex TAS11102452
    GO:0030016myofibril NAS8287067

    Find genes that share ontologies with MYL2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYL2 About   (see all 27)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56


    Find genes that share SuperPaths with MYL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYL2 (see all 18)
        RhoA Pathway
    PKA Signaling
    Guidance Cues and Growth Cone Motility
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes

    Selected GeneGo (Thomson Reuters) Pathways for MYL2 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    Selected BioSystems Pathways for MYL2 (see all 7)
        Myometrial Relaxation and Contraction Pathways
    Cardiac Progenitor Differentiation
    Striated Muscle Contraction
    N-cadherin signaling events
    CDC42 signaling events

    1 Reactome Pathway for MYL2
        Striated Muscle Contraction


    Selected Kegg Pathways  (Kegg details for MYL2) (see all 8):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Focal adhesion
    Tight junction
    Leukocyte transendothelial migration

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYL2
    Interactions:

        Search GeneGlobe Interaction Network for MYL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYL2 (P109161, 2, 3 ENSP000002288414) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRSAM1Q6UWE02, 3MINT-64679 I2D: score=4 
    TRIM63Q969Q13, ENSP000003633904I2D: score=3 STRING: ENSP00000363390
    CDC42BPAQ5VT253, ENSP000003557314I2D: score=1 STRING: ENSP00000355731
    PPP1R12CQ9BZL43, ENSP000002634334I2D: score=1 STRING: ENSP00000263433
    MYOCQ999723, ENSP000000375024I2D: score=1 STRING: ENSP00000037502
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003007heart morphogenesis ----
    GO:0006942regulation of striated muscle contraction TAS8673105
    GO:0007507heart development ----
    GO:0009791post-embryonic development IEA--
    GO:0030049muscle filament sliding TAS--

    Find genes that share ontologies with MYL2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MYL2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    1 HMDB Compound for MYL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    3 Novoseek inferred chemical compound relationships for MYL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 10.1 4 9220339 (3)
    calcium 0 1 15753841 (1)
    potassium 0 1 15753841 (1)



    Find genes that share compounds with MYL2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYL2 gene: 
    NM_000432.3  

    Unigene Cluster for MYL2:

    Myosin, light chain 2, regulatory, cardiac, slow
    Hs.75535  [show with all ESTs]
    Unigene Representative Sequence: BF673973
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000228841(uc001trx.4 uc001try.4) ENST00000548438 ENST00000549029
    ENST00000546404
    miRNA
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    Additional mRNA sequence: 

    AF020768.1 AK312013.1 BC015821.1 BC031006.1 BC031008.1 BX538165.1 CR456962.1 CR541957.1 
    M22815.1 S69022.1 X14332.1 X57542.1 X66141.1 

    23 DOTS entries:

    DT.450585  DT.100798453  DT.100798459  DT.100798457  DT.102837501  DT.102837503  DT.121215659  DT.75100621 
    DT.100798451  DT.100659582  DT.121215668  DT.95359103  DT.102837504  DT.102837506  DT.102837507  DT.97775874 
    DT.102837508  DT.121215675  DT.40133503  DT.92445757  DT.95359069  DT.95359075  DT.95359067 

    Selected AceView cDNA sequences (see all 587):

    C04779 AJ709653 C05488 AJ706933 N85695 AJ711658 AJ709384 CA415467 
    AJ710355 AJ708441 AJ572828 AJ712168 C05566 T20194 C05576 F32029 
    AJ708736 C04794 AA346218 AJ708684 F37047 C05626 C05484 AJ710492 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MYL2    About this scheme

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


    ECgene alternative splicing isoforms for MYL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCAATAAA
    MYL2 Expression
    About this image


    MYL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 17 entries
             Cardiomyocytes Left Ventricle
             Heart Tube
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like progenitor cells
     
     NULL (Uncategorized)    fully expand to see all 5 entries
             Cardiomyocyte-like cells
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
    MYL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75535
        Custom PCR Arrays for MYL2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYL2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myl21 , 5 myosin, light polypeptide 2, regulatory, cardiac, slow less1, 5 85.34(n)1
    96.39(a)1
      5 (62.16 cM)5
    179061  NM_010861.31  NP_034991.31 
     1221009515 
    chicken
    (Gallus gallus)
    Aves MYL21 myosin, light chain 2, regulatory, cardiac, slow 81.21(n)
    90.91(a)
      416874  NM_001271929.1  NP_001258858.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYL26
    myosin, light chain 2, regulatory, cardiac, slow
    93(a)
    1 ↔ 1
    GL343423.1(466272-485551)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia myl21 myosin, light chain 2, regulatory, cardiac, slow 80.12(n)
    89.16(a)
      100135705  NM_001114245.1  NP_001107717.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005372441 myosin regulatory light chain 2, ventricular/cardiac muscle isoform-like less 80.32(n)
    89.76(a)
      100537244  XM_003198563.2  XP_003198611.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYL2 gene
    MYL12A2  MYL102  MYL72  MYL92  MYL52  MYLPF2  MYL12B2  
    16 SIMAP similar genes for MYL2 using alignment to 3 protein entries:     MLRV_HUMAN (see all proteins):
    MYLPF    MYL5    MYL12A    MYL9    MYL12B    MYL7
    MYL10    CALM2    CALM1    CALM3    CALML3    MYL6
    CETN2    CALML4    CETN1    CETN3

    Find genes that share paralogs with MYL2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYL2 (see all 452)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048943631,2,,4
    C,FCardiomyopathy, familial hypertrophic 10 (CMH10)4 pathogenic1111154270(-) GGGGCG/ACCAAC 2 /T /A mis12Minor allele frequency- A:0.00NA EU 5859
    rs289330991,2,4
    Cardiomyopathy, familial hypertrophic 10 (CMH10)4--see VAR_0046042 mis40--------
    VAR_0198444
    Cardiomyopathy, familial hypertrophic 10 (CMH10)4--see VAR_0198442 D V mis40--------
    VAR_0046034
    Cardiomyopathy, familial hypertrophic 10 (CMH10)4--see VAR_0046032 E K mis40--------
    VAR_0046054
    Cardiomyopathy, familial hypertrophic 10 (CMH10)4--see VAR_0046052 P A mis40--------
    rs289327741,2,4
    Cardiomyopathy, familial hypertrophic 10 (CMH10)4--see VAR_0046022 mis40--------
    rs22332611,2
    C,F,Hnon-pathogenic1111148228(-) CAGGCG/AGAGAG 2 /A syn1 ese36Minor allele frequency- A:0.01NS EA WA NA 5078
    rs1219136581,2
    Cpathogenic1111148426(-) CGGACC/GCTGAG 2 P A mis10--------
    rs1048943691,2
    Cpathogenic1111149397(-) AGGGCA/GAGTGA 2 Q R mis10--------
    rs1048943681,2
    Cpathogenic1111154243(-) TGTTCA/GAACAG 2 K E mis10--------

    HapMap Linkage Disequilibrium report for MYL2 (111348623 - 111358526 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7236OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): MYL2
    Locus Specific Mutation Databases (LSDB): MYL2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 160781   
    OMIM disorders: 608758  
    UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for MYL2:    
    About MalaCards
    cardiomyopathy, familial hypertrophic, 10    myl2-related familial hypertrophic cardiomyopathy    congenital fiber-type disproportion    restrictive cardiomyopathy
    hypertrophic cardiomyopathy

    1 disease from the University of Copenhagen DISEASES database for MYL2:
    Hypertrophic cardiomyopathy

    Find genes that share disorders with MYL2           About GenesLikeMe

    3 Novoseek inferred disease relationships for MYL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiomyopathy 46.2 2 17885681 (1), 9769337 (1)
    hypertrophy 33.6 1 8576950 (1)
    cardiac hypertrophy 23.7 3 7683979 (2), 8576950 (1)

    GeneTests: MYL2
    GeneReviews: MYL2
    Genetic Association Database (GAD): MYL2
    Human Genome Epidemiology (HuGE) Navigator: MYL2 (12 documents)

    Export disorders for MYL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYL2 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with MYL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PubMed id 12404107)1, 2, 4 Kabaeva Z.T.... Osterziel K.J. (Eur. J. Hum. Genet. 2002)
    2. Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain. (PubMed id 8287067)1, 2, 9 Wadgaonkar R.... Siddiqui M.A. (Cell. Mol. Biol. Res. 1993)
    3. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. (PubMed id 9535554)1, 2, 9 Flavigny J....Hainque B. (J. Mol. Med. 1998)
    4. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (Eur. J. Hum. Genet. 2009)
    5. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PubMed id 21909109)1, 4 Kim Y.J....Cho Y.S. (Nat. Genet. 2011)
    6. Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. (PubMed id 21270382)1, 4 Baik I....Shin C. (Am. J. Clin. Nutr. 2011)
    7. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. (PubMed id 20359594)1, 4 Girolami F....Olivotto I. (J. Am. Coll. Cardiol. 2010)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    9. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. (PubMed id 19875404)1, 4 MA...Christiansen M. (Eur. J. Heart Fail. 2009)
    10. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4 Kaski J.P....Elliott P.M. (Circ Cardiovasc Genet 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4633 HGNC: 7583 AceView: MYL2 Ensembl:ENSG00000111245 euGenes: HUgn4633
    ECgene: MYL2 Kegg: 4633 H-InvDB: MYL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYL2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYL2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYL2 gene:
    Search GeneIP for patents involving MYL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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