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MYLK2 Gene

protein-coding   GIFtS: 63
GCID: GC20P030407

Myosin Light Chain Kinase 2

(Previous names: myosin light chain kinase 2, skeletal muscle)
  See 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 Kinase 21 2     Skeletal Muscle Myosin Light Chain Kinase1
Myosin Light Chain Kinase 2, Skeletal Muscle1 2     KMLC2
MLCK22 3     Myosin Light Chain Kinase 2, Skeletal/Cardiac Muscle2
EC 2.7.11.183 8     skMLCK2
MLCK2 5     EC 2.7.118

External Ids:    HGNC: 162431   Entrez Gene: 853662   Ensembl: ENSG000001013067   OMIM: 6065665   UniProtKB: Q9H1R33   

Export aliases for MYLK2 gene to outside databases

Previous GC identifers: GC20P030195 GC20P031105 GC20P031152 GC20P029870 GC20P027196


(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 MYLK2 Gene:
This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively
expressed in adult skeletal muscle. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYLK2 Gene:
MYLK2 (myosin light chain kinase 2) is a protein-coding gene. Diseases associated with MYLK2 include hypertrophic cardiomyopathy, midventricular, digenic, and caveolinopathies. GO annotations related to this gene include calmodulin binding and myosin light chain kinase activity. An important paralog of this gene is STK17B.

UniProtKB/Swiss-Prot: MYLK2_HUMAN, Q9H1R3
Function: Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific
serine in the N-terminus of a myosin light chain

summary for MYLK2 Gene:
Myosin Light Chain Kinases (MLCKs) are a group of protein serine/threonine kinases that is currently divided
into two subtypes, MLCK1 and MLCK2. MLCK1 is found in smooth muscle and phosphorylates myosin II regulatory
light chains at Ser19, allowing myosin crossbridges to bind to actin filaments and initiate contraction. In
addition to smooth muscle contraction, MLCK1 is involved in a diverse range of biological processes
including control of endothelial and vascular permeability, growth initiation of astrocytes processes,
neurotransmitter release in the sympathetic nervous system and apoptosis of fibroblasts. MLCK2 is found in
striated muscle and co-localizes with phosphorylated MLC filaments to mediate skeletal and cardiac muscle
contraction. MLCK3 and MLCK4 have recently been identified but are yet to be fully characterized. MLCKs are
activated by Ca2+-calmodulin complexes and require Mg2+ or Ca2+ as a co-factor.

Gene Wiki entry for MYLK2 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:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYLK2 gene promoter:
         SRF   SRF (504 AA)   YY1   C/EBPalpha   E47   CHOP-10   AREB6   Hand1   ZID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYLK2 promoter sequence
   Search Chromatin IP Primers for MYLK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYLK2


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

Entrez Gene cytogenetic band: 20q13.31   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q13.31

MYLK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYLK2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P030407:  view genomic region     (about GC identifiers)

Start:
30,407,111 bp from pter      End:
30,422,500 bp from pter
Size:
15,390 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MYLK2_HUMAN, Q9H1R3 (See protein sequence)
Recommended Name: Myosin light chain kinase 2, skeletal/cardiac muscle  
Size: 596 amino acids; 64685 Da
Subunit: May interact with centrin
2 PDB 3D structures from and Proteopedia for MYLK2:
2LV6 (3D)        3KF9 (3D)    
Secondary accessions: Q569L1 Q96I84

Explore the universe of human proteins at neXtProt for MYLK2: NX_Q9H1R3

Explore proteomics data for MYLK2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MYLK2 (Q9H1R3) (see all 9)
     IIDFGLA  GELFERI  LHLDLKP  GSPAFLHSPSCPA 


    See MYLK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149109.1  
    ENSEMBL proteins: 
     ENSP00000365162   ENSP00000365152  

    MYLK2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYLK2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: myosin light chain kinase 2
    Selected non-AGC protein kinase activities
    Myosin Light Chain Kinase (MLCK) family

    Selected InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q9H1R3

    ProtoNet protein and cluster: Q9H1R3

    UniProtKB/Swiss-Prot: MYLK2_HUMAN, Q9H1R3
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


    MYLK2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYLK2_HUMAN, Q9H1R3
    Function: Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific
    serine in the N-terminus of a myosin light chain
    Catalytic activity: ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate

         Enzyme Numbers (IUBMB): EC 2.7.11.181 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004683calmodulin-dependent protein kinase activity ISS--
    GO:0004687myosin light chain kinase activity ISS--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
         
    MYLK2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for MYLK2:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Decreased viability  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mylk2):
     muscle 

    MYLK2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mylk2tm1Jtst for MYLK2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYLK2
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    Selected qRT-PCR Assays for microRNAs that regulate MYLK2 (see all 24):
    hsa-miR-644 hsa-miR-486-5p hsa-miR-3150a-3p hsa-miR-649 hsa-miR-124 hsa-miR-506 hsa-miR-323-5p hsa-miR-1293
    SwitchGear 3'UTR luciferase reporter plasmidMYLK2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MYLK2 (NM_033118)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYLK2


    (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
    MYLK2_HUMAN, Q9H1R3: Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of
    the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0030017sarcomere IC16448786

    MYLK2 for ontologies           About GeneDecksing


    (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 MYLK2 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Integrin-mediated cell adhesion0.38
    Focal Adhesion0.65
    2Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    3Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    4Oxytocin signaling pathway
    Oxytocin signaling pathway0.32
    Vascular smooth muscle contraction0.32
    5Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected GeneGo (Thomson Reuters) Pathways for MYLK2 (see all 6)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    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

    3 BioSystems Pathways for MYLK2
        Myometrial Relaxation and Contraction Pathways
    Focal Adhesion
    Integrin-mediated cell adhesion



    Selected Kegg Pathways  (Kegg details for MYLK2) (see all 6):
        Calcium signaling pathway
    Vascular smooth muscle contraction
    Focal adhesion
    Regulation of actin cytoskeleton
    Oxytocin signaling pathway


    MYLK2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYLK2: 
              Hypertension in human mouse rat
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYLK2

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

    Selected Interacting proteins for MYLK2 (Q9H1R31, 2, 3 ENSP000003651524) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K1Q132332, 3MINT-48363 I2D: score=2 
    MAP3K3Q997592, 3MINT-48526 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49462 I2D: score=2 
    TRAF2Q129332, 3MINT-49562 I2D: score=2 
    MEF2CQ064131, 2, 3, ENSP000003962194EBI-356910,EBI-2684075 MINT-8189066 MINT-8189024 I2D: score=2 STRING: ENSP00000396219
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0006941striated muscle contraction IDA16448786
    GO:0007274neuromuscular synaptic transmission IEA--
    GO:0010628positive regulation of gene expression IDA--
    GO:0014816satellite cell differentiation IEA--

    MYLK2 for ontologies           About GeneDecksing



    (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 MYLK2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    MLCK inhibitor peptideMyosin light chain kinase inhibitor[198694-74-5]
    ML 9 hydrochlorideMyosin light chain kinase inhibitor[105637-50-1]
    ML 7 hydrochlorideSelective inhibitor of myosin light chain kinase[110448-33-4]

    3 HMDB Compounds for MYLK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--

    1 IUPHAR Ligand for MYLK2 (myosin light chain kinase 2)    About this table
    LigandTypeActionAffinityPubmed IDs
    calmodulin
    ActivatorActivation156362

    Selected Novoseek inferred chemical compound relationships for MYLK2 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 56.3 3 9047304 (1), 2369131 (1), 1710106 (1)
    norleucine 54.5 1 10210190 (1)
    ethionine 54.1 1 10210190 (1)
    selenomethionine 47.2 1 9485473 (1)
    calcium 45.7 46 8144585 (6), 8063799 (4), 9922147 (4), 9848178 (3) (see all 19)
    amp-pnp 35.6 1 9760234 (1)
    atp 32.6 11 8250857 (3), 8060530 (2), 7575484 (1), 7767880 (1) (see all 6)
    threonine 25.8 2 12297722 (1), 16448786 (1)
    adp 25.3 1 15598663 (1)
    wortmannin 22.7 10 7492304 (4), 11294240 (1), 9716716 (1)



    MYLK2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYLK2 gene: 
    NM_033118.3  

    Unigene Cluster for MYLK2:

    Myosin light chain kinase 2
    Hs.86092  [show with all ESTs]
    Unigene Representative Sequence: BX647635
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375994 ENST00000375985(uc002wwq.2) ENST00000468730(uc002wws.2 uc010gdw.1)

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    hsa-miR-644 hsa-miR-486-5p hsa-miR-3150a-3p hsa-miR-649 hsa-miR-124 hsa-miR-506 hsa-miR-323-5p hsa-miR-1293
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    Additional mRNA sequence: 

    AF325549.1 AJ272502.1 BC007753.1 BC069627.1 BC092413.1 BC127622.1 BX647635.1 

    3 DOTS entries:

    DT.95365694  DT.102824532  DT.101982260 

    Selected AceView cDNA sequences (see all 34):

    AF325549 CF552239 BC007753 NM_033118 BC069627 F22840 F31270 BX647635 
    CD634733 CF455472 BG825412 AJ572379 CD634737 AW444680 CD634744 AJ272502 
    CD634747 AJ346142 CD634749 F37398 CD634739 CD634750 AA197072 AA196011 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MYLK2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                          
    SP2:                                                                                          


    ECgene alternative splicing isoforms for MYLK2

    (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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    MYLK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCAGCCTC
    MYLK2 Expression
    About this image

    MYLK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYLK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.86092

    UniProtKB/Swiss-Prot: MYLK2_HUMAN, Q9H1R3
    Tissue specificity: Heart and skeletal muscles. Increased expression in the apical tissue compared to the
    interventricular septal tissue

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYLK2: 
              Hypertension in human mouse rat
              Cytoskeleton Regulators in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYLK2

    (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 animals.

    Orthologs for MYLK2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mylk21 , 5 myosin, light polypeptide kinase 2, skeletal muscle1, 5 84.37(n)1
    83.98(a)1
      2 (75.41 cM)5
    2287851  NM_001081044.21  NP_001074513.21 
     1529113525 
    chicken
    (Gallus gallus)
    Aves MYLK21 myosin light chain kinase 2 69.55(n)
    68.25(a)
      396356  NM_205392.1  NP_990723.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYLK26
    myosin light chain kinase 2
    78(a)
    1 ↔ 1
    GL343768.1(636-11893)
    zebrafish
    (Danio rerio)
    Actinopterygii mylk26
    myosin light chain kinase 2
    32(a)
    1 ↔ 1
    23(32277965-32299462) ENSDARG00000031698
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17763
    sqa1
    protein amino acid phosphorylation
    protein serine/threonine more3
    spaghetti-squash activator1
    48(a)3
    58.8(n)1
    51.6(a)1
      46B23
    360021  NM_136670.31  NP_610514.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZC373.43 calcium/calmodulin dependent protein
    kinase
    41(a)   X(10098022-10105019)   --


    ENSEMBL Gene Tree for MYLK2 (if available)
    TreeFam Gene Tree for MYLK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYLK2 gene
    STK17B2  DAPK22  TTN2  STK17A2  MYLK32  OBSCN2  DAPK32  SPEG2  
    MYLK42  DAPK12  MYLK2  
    8 SIMAP similar genes for MYLK2 using alignment to 1 protein entry:     MYLK2_HUMAN:
    MYLK4    STK17A    PRKAA1    MYLK3    PSKH2    CAMK1
    PSKH1    MYLK

    MYLK2 for paralogs           About GeneDecksing



    (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 MYLK2 (see all 431)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219081071,2,,4
    CCardiomyopathy, familial hypertrophic (CMH)4 pathogenic130421370(+) GCCCGC/TGGAGG 2 A V mis10--------
    rs1219081081,2,,4
    C,FCardiomyopathy, familial hypertrophic (CMH)4 pathogenic130421394(+) CCCGGC/AAGCCC 2 /E /A mis11Minor allele frequency- A:0.00NA 2918
    VAR_0408604
    A lung neuroendocrine carcinoma sample4--see VAR_0408602 A V mis40--------
    rs765309881,2
    C,Fnon-pathogenic130427762(+) TGCCCG/AAAGTA 1 -- int12Minor allele frequency- A:0.03NA EU 709
    rs60609801,2
    C,F,A,Hnon-pathogenic130433189(+) GATTCA/GGGGTG 1 -- int119Minor allele frequency- G:0.11NS EA NA MN CSA WA EU 2198
    rs412931061,2
    C,Fprobable-non-pathogenic130425335(+) AAAGCC/G/TACAGG 2 A syn15NA CSA EU 5968
    rs558073531,2
    C,Fprobable-non-pathogenic130433048(+) GCCCGG/AATGAA 2 /R syn12Minor allele frequency- A:0.00NA EU 4769
    rs343966141,2,,4
    C,Fprobable-pathogenic130421540(+) GCTCAC/GCTGCC 2 P A mis14Minor allele frequency- G:0.01NA EU 5581
    rs1939227131,2
    Cunknown130425403(+) GTTGCA/GGGGGT 1 -- int10--------
    rs1382634881,2
    --30418418(+) CTCCTC/TGTCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYLK2 (30407111 - 30422500 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MYLK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676878CNV Deletion23128226
    esv2664840CNV Deletion23128226
    nsv3346CNV Insertion18451855

    Human Gene Mutation Database (HGMD): MYLK2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYLK2
    DNA2.0 Custom Variant and Variant Library Synthesis for MYLK2

    (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: 606566   
    OMIM disorders: 192600  
    UniProtKB/Swiss-Prot: MYLK2_HUMAN, Q9H1R3
  • Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 19 diseases for MYLK2:    
    About MalaCards
    hypertrophic cardiomyopathy, midventricular, digenic    caveolinopathies    familial hypertrophic cardiomyopathy    syncope
    hypertrophic cardiomyopathy    burns    endotheliitis    myopathy
    ischemia    pancreatic cancer    hypertension    breast cancer
    pancreatitis    malaria    esophagitis    multiple myeloma
    myeloma    leukemia    neuronitis


    MYLK2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MYLK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 6 20453870 (2), 18710790 (2)

    Genetic Association Database (GAD): MYLK2
    Human Genome Epidemiology (HuGE) Navigator: MYLK2 (9 documents)

    Export disorders for MYLK2 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 MYLK2 gene, integrated from 10 sources (see all 156):
    (articles sorted by number of sources associating them with MYLK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of the kinase domain of MYLK2 gene in common human cancers. (PubMed id 16448786)1, 4, 9 Soung Y.H....Lee S.H. (Pathol. Res. Pract. 2006)
    2. 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. (Genome Res. 2004)
    3. The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. (PubMed id 11733062)1, 2 Davis J.S.... Epstein N.D. (Cell 2001)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. Single-molecule force spectroscopy distinguishes target binding modes of calmodulin. (PubMed id 19667195)1, 9 Junker J.P. and Rief M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    6. Canonical and kinase activity-independent mechanisms for extracellular signal-regulated kinase 5 (ERK5) nuclear translocation require dissociation of Hsp90 from the ERK5-Cdc37 complex. (PubMed id 23428871)1 Erazo T....Lizcano J.M. (Mol. Cell. Biol. 2013)
    7. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (Mol. Endocrinol. 2013)
    8. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    9. Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase. (PubMed id 21726808)1 Jiang W.... Zhao S. (Mol. Cell 2011)
    10. Identification of proteins associated with ligand-activated estrogen receptor I+ in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (Proteomics 2011)

    (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: 85366 HGNC: 16243 AceView: MYLK2 Ensembl:ENSG00000101306 euGenes: HUgn85366
    ECgene: MYLK2 Kegg: 85366 H-InvDB: MYLK2

    (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 MYLK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYLK2 gene:
    Search GeneIP for patents involving MYLK2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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