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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYL2 Gene

protein-coding   GIFtS: 70
GCID: GC12M111348

myosin, light chain 2, regulatory, cardiac, slow

(Previous names: myosin, light polypeptide 2, regulatory, cardiac, slow...)
 Explore 15 diseases affiliated with
MYL2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYL2    

Aliases
for MYL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myosin, Light Chain 2, Regulatory, Cardiac, Slow1 2     Cardiac Ventricular Myosin Light Chain 22
CMH101 2 5     Myosin Light Chain 22
Myosin, Light Polypeptide 2, Regulatory, Cardiac, Slow1 2     Myosin Regulatory Light Chain 2, Ventricular/Cardiac Muscle Isoform2
MLC-22 3     Regulatory Light Chain Of Myosin2
MLC-2v2 3     RLC Of Myosin2
MLC22     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


Summaries
for MYL2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MYL2:
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)

summary for MYL2:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 plasmid: MYL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MYL2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm, myofibril, sarcomere, A band (By similarity)
Miscellaneous: This chain binds calcium
Secondary accessions: Q16123

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

Post-translational modifications:

  • N-terminus is methylated by METTL11A/NTM1 (By similarity)1
  • Phosphorylated by MYLK3 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10916

    • MYL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000423.2  
    ENSEMBL proteins: 
     ENSP00000228841   ENSP00000447154   ENSP00000449490  
    Reactome Protein details: P10916
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for MYL2
    Uscn Proteins for MYL2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    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


    MYL2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MYL2

    Protein Domains /
    Families
    for MYL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYL2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR018248 EF-hand

    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


    Function
    for MYL2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:
         Genatlas biochemistry entry for MYL2:
    myosin,light polypeptide 2,regulatory,cardiac,slow

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYL2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MYL2:
    hsa-miR-876-5p hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmid: MYL2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003785actin monomer binding IDA9180271
    GO:0005509calcium ion binding IDA11102452
    GO:0005515protein binding IPI16555005
    GO:0008307structural constituent of muscle NAS17885681
    GO:0032036myosin heavy chain binding NAS8287067


    MYL2 for ontologies           About GeneDecksing


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

    MYL2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MYL2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/27 super-pathways (see all 27) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases0.49
    2Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    3Immune response _CCR3 signaling in eosinophils
    		Immune response _CCR3 signaling in eosinophils1.00
    		Inhibitory action of Lipoxins on neutrophil migration0.51
    		Immune response CCR3 signaling in eosinophils1.00
    4PAK Pathway
    		PAK Pathway1.00
    		Epithelial Adherens Junctions0.36
    		Antioxidant Action of Vitamin-C0.56
    5Striated Muscle Contraction
    		Striated Muscle Contraction1.00
    		Muscle contraction0.65
    		Striated Muscle Contraction0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for MYL2
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Development MAG-dependent inhibition of neurite outgrowth

    5/18 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/6 BioSystems Pathways for MYL2 (see all 6) 
        Myometrial Relaxation and Contraction Pathways
    Stabilization and expansion of the E-cadherin adherens junction
    RhoA signaling pathway
    CDC42 signaling events
    Striated Muscle Contraction

    2        Reactome Pathways for MYL2
        Muscle contraction
    Striated Muscle Contraction


    5/7         Kegg Pathways  (Kegg details for MYL2) (see all 7):
        Cardiac muscle contraction
    Focal adhesion
    Tight junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton


    MYL2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYL2

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

    5/55 Interacting proteins for MYL2 (P109161, 2, 3 ENSP000002288414) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006942regulation of striated muscle contraction TAS8673105
    GO:0007507heart development ----
    GO:0009791post-embryonic development IEA--
    GO:0030049muscle filament sliding TAS--
    GO:0030308negative regulation of cell growth IMP15824735


    MYL2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYL2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYL2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MYL2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II. Inactive enantiomer of (±)-blebbistatin (Cat. No. 1760)--
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II. Active enantiomer of (±)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (±)-BlebbistatinSelective inhibitor of myosin II[674289-55-5]

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

    Search CenterWatch for drugs/clinical trials and news about MYL2 / MLRV 

    Transcripts
    for MYL2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000228841(uc001trx.4 uc001try.4) ENST00000548438 ENST00000550439
    ENST00000549029 ENST00000546404

    miRNA
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    hsa-miR-876-5p hsa-miR-3167
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/587 AceView cDNA sequences (see all 587):

    CB049405 AA346120 AJ709766 AJ709053 AJ712168 BC031006 BM724247 F32029 
    AJ709728 AI286234 AJ710158 AA180217 T20194 F28799 AA346207 AJ711400 
    AJ709626 C05626 BF001329 F28113 AJ709177 F26807 AJ708441 F31461 

    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

    Expression
    for MYL2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCAATAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrial SeptumCardiomyocytesMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartRight VentricleCardiomyocytesMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    Gut TubeForegutForegut Endoderm CellsEndoderm
    HeartMyocardiumCardiac FibroblastsEpicardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    AdiposeInterscapular Brown Adipose DepotAdipose
    HeartHeart TubeHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Cardiomyocyte-like cells (Cardiomyocyte genera...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    Cardiomyocyte-like cells (Spontaneous differen...)
    DKK1-induced cells (Derivation of cardio...)
    Mesoderm-like cells (Derivation of cardio...)

    See MYL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYL2

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

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MYL2 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MYL21 myosin, light chain 2, regulatory, cardiac, slow 81.21(n)
    90.91(a)    		   416874  XM_415166.3  XP_415166.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MYL26
    		 --
    		 89(a)
    		 1 ↔ 1
    		 GL343423.1(471110-482783)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005372441 myosin regulatory light chain 2, ventricular/cardiac more 80.2(n)
    89.7(a)    		   100537244  XM_003198563.1  XP_003198611.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Mlc26
    Eip63F-16
    (see all 3)    		 Ecdysone-induced protein 63F 1
    (see all 3)    		 29(a)
    20(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 3R(25997160-26000273)
    3L(3909973-3935617)
    worm
    (Caenorhabditis elegans)    		 Secernentea mlc-23   -- 48(a)
    (best of 2)    		   X(17486697-17487363)   --
    rice
    (Oryza sativa)    		 Liliopsida --
    		 OsCML9 - Calmodulin-related calcium sensor protein...
    		 25(a)
    		 possible ortholog
    		 5(24067532-24068539)


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

    Paralogs
    for MYL2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYL2 gene
    MYL12A2  MYL72  MYL102  MYL92  MYL52  MYLPF2  MYL12B2  
    18/20 SIMAP similar genes for MYL2 using alignment to 4 protein entries:     MLRV_HUMAN (see all proteins) (see all similar genes):
    MYLPF    MYL5    MYL12A    MRLC3    MYL9    MYL12B
    MYL10    MYL7    CALM3    CALM2    CALM1    CALML3
    CABP1    CETN2    MYL6    CALML4    CETN1    CETN3

    MYL2 for paralogs           About GeneDecksing



    Genomic Variants
    for MYL2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/386 NCBI SNPs in MYL2 are shown (see all 386)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs22332611,2
    		C,F,H,non-pathogenic111350921(-) CAGGCG/AGAGAG 2 /A syn1 ese36Minor allele frequency- A:0.01NS EA WA NA 5078
    rs1219136581,2
    		Cpathogenic111351120(-) CGGACC/GCTGAG 2 P A mis10--------
    rs1048943691,2
    		Cpathogenic111352091(-) AGGGCA/GAGTGA 2 Q R mis10--------
    rs1048943681,2
    		C,pathogenic111356937(-) TGTTCA/GAACAG 2 K E mis10--------
    rs1048943701,2
    		Cpathogenic111356949(-) ACGTGC/TTCTCC 2 L F mis10--------
    rs1048943631,2
    		C,F,pathogenic111356964(-) GGGGCG/ACCAAC 2 /T /A mis12Minor allele frequency- A:0.00NA EU 5859
    rs1920570221,2
    		C,probable-pathogenic111350943(+) TTTCCC/TGAACG 2 Q R mis10--------
    rs1431392581,2
    		C,Funtested111350901(+) TTACCT/GCCTCC 2 /E /A mis11Minor allele frequency- G:0.00NA 4552
    rs38339101,2
    		C,untested111351030(-) TGGGG-/GAGGAA 1 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs20716291,2
    		C,F,H,untested111351186(-) TGCCTG/AGGGTG 1 -- int17Minor allele frequency- A:0.10NS EA WA NA 774

    HapMap Linkage Disequilibrium report for MYL2 (111348623 - 111358526 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MYL2
         1 Inversion: 37130
    Human Gene Mutation Database (HGMD): MYL2

    Locus Specific Mutation Databases (LSDB): MYL2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYL2
    DNA2.0 Custom Variant and Variant Library Synthesis for MYL2

    Disorders / Diseases
    for MYL2 gene

    (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.)
    About This Section
    MYL2 for disorders           About GeneDecksing

    OMIM gene information: 160781   
    OMIM disorders: 608758  
    UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916
  • Defects in MYL2 are the cause of familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758]. Familial
    • hypertrophic cardiomyopathy is 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

    15 diseases for MYL2:    About MalaCards
    hypertrophic cardiomyopathy    cardiomyopathy    cardiomyopathy, familial hypertrophic, 10    restrictive cardiomyopathy
    familial hypertrophic cardiomyopathy    myotonic dystrophy    dilated cardiomyopathy    hermaphroditism
    liver cancer    hepatocellular carcinoma    myopathy    pharyngitis
    sarcoma    carcinoma    alcoholism

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

    3 Novoseek 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
    Familial Hypertrophic Cardiomyopathy

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

    Export disorders for MYL2 gene to outside databases

    Publications
    for MYL2 gene

    (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)
    About This Section

    PubMed articles for MYL2 gene, integrated from 9 sources (see all 94):
    (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. (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. (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. (1998)
    4. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 4 Ingles J.... Semsarian C. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. (PubMed id 12707239)1, 2 Richard P....Komajda M. (2003)
    7. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. (PubMed id 12818575)1, 2 Moerner S.... Waldenstroem A. (2003)
    8. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. (PubMed id 8673105)1, 2 Poetter K.... Epstein N.D. (1996)
    9. The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)1, 2 Kovalyov L.I.... Musalyamov A.K. (1995)
    10. Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3. (PubMed id 1386340)1, 3 Macera M.J....Verma R.S. (1992)

    External Searches for MYL2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MYL2 gene

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

    Other Databases showing MYL2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MYL2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/MYL2

    Intellectual Property
    for MYL2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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