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

MYLK2 Gene

protein-coding   GIFtS: 65
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Focal Adhesion and Immune response CCR3 signaling in eosinophils. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MYLK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of
the myofibrils
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H1R3

  • 4/9 DME Specific Peptides for MYLK2 (Q9H1R3) (see all 9)
     IIDFGLA  GELFERI  LHLDLKP  GSPAFLHSPSCPA 

    MYLK2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYLK2 Protein Expression
    REFSEQ proteins: NP_149109.1  
    ENSEMBL proteins: 
     ENSP00000365162   ENSP00000365152  

    Human Recombinant Protein Products for MYLK2: 
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    Cloud-Clone Corp. Proteins for MYLK2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MYLK2 for ontologies           About GeneDecksing



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

    5/6 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_cat_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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for MYLK2 
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    SwitchGear 3'UTR luciferase reporter plasmidMYLK2 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1Focal Adhesion
    Focal Adhesion0.64
    Integrin-mediated cell adhesion0.38
    Focal adhesion0.64
    2Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    3Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    4Regulation of Actin Cytoskeleton
    Regulation of actin cytoskeleton0.57
    5Calcium Regulation in the Cardiac Cell
    Myometrial Relaxation and Contraction Pathways0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYLK2
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Signal transduction Activation of PKC via G-Protein coupled receptor


    5/6 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
        Focal Adhesion
    Myometrial Relaxation and Contraction Pathways
    Integrin-mediated cell adhesion



    5         Kegg Pathways  (Kegg details for MYLK2):
        Calcium signaling pathway
    Vascular smooth muscle contraction
    Focal adhesion
    Regulation of actin cytoskeleton
    Gastric acid secretion


    MYLK2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYLK2

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

    5/118 Interacting proteins for MYLK2 (Q9H1R32, 3 ENSP000003651524) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    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 
    MEF2CQ064132, 3, ENSP000003962194MINT-8189066 MINT-8189024 I2D: score=2 STRING: ENSP00000396219
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYLK2 for compounds           About GeneDecksing

    EMD Millipore small molecules for MYLK2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/16 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)

    Search CenterWatch for drugs/clinical trials and news about MYLK2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/34 AceView cDNA sequences (see all 34):

    AF325549 BC069627 CF552239 NM_033118 BC007753 BG825412 AJ272502 CD634744 
    CF455472 F22840 F31270 AJ572379 BX647635 CD634733 AW444680 CD634737 
    CD634747 F37398 AJ346142 CD634749 CD634739 AA196011 CD634735 AJ571828 

    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™, 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

    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


    See MYLK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYLK2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including MYLK2: 
              Hypertension in human mouse rat
              Cytoskeleton Regulators in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MYLK2 gene from 6/13 species (see all 13)    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 84.46(n)1
    83.5(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 65.6(n)
    61.61(a)
      396356  NM_205392.1  NP_990723.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYLK26
    Uncharacterized protein
    76(a)
    1 ↔ 1
    GL343768.1(636-11893)
    zebrafish
    (Danio rerio)
    Actinopterygii mylk26
    myosin light chain kinase 2
    30(a)
    1 ↔ 1
    23(32277965-32299462)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17763
    CG423471
    protein amino acid phosphorylation
    protein serine/threonine more3
    CG423471
    48(a)3
    56.74(n)1
    49.65(a)1
      46B23
    360021  NM_136670.21  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)
    About This Section
    Paralogs for MYLK2 gene
    STK17B2  DAPK22  TTN2  MYLK32  STK17A2  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) 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

    10/431 SNPs in MYLK2 are shown (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
    ----------
    VAR_0408604
    A lung neuroendocrine carcinoma sample4--see VAR_0408602 A V mis40--------
    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
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 14 diseases for MYLK2:    About MalaCards
    hypertrophic cardiomyopathy, midventricular, digenic    caveolinopathies    syncope    hypertrophic cardiomyopathy
    endotheliitis    myopathy    ischemia    pancreatic cancer
    breast cancer    pancreatitis    esophagitis    hypertension
    neuronitis    leukemia


    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)
    About This Section

    PubMed articles for MYLK2 gene, integrated from 9 sources (see all 155):
    (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. (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. (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. (2001)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. Single-molecule force spectroscopy distinguishes targ et binding modes of calmodulin. (PubMed id 19667195)1, 9 Junker J.P. and Rief M. (2009)
    6. Canonical and kinase activity-independent mechanisms f or 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. (2013)
    7. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (2013)
    8. Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (2012)
    9. Acetylation regulates gluconeogenesis by promoting PE PCK1 degradation via recruiting the UBR5 ubiquitin ligase. (PubMed id 21726808)1 Jiang W....Zhao S. (2011)
    10. Identification of proteins associated with ligand-acti vated estrogen receptor a in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (2011)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 85366 HGNC: 16243 AceView: MYLK2 Ensembl:ENSG00000101306 euGenes: HUgn85366
    ECgene: MYLK2 Kegg: 85366 H-InvDB: MYLK2

    (According to HUGE)
    About This Section
      --

    (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 MYLK2 Pharmacogenomics, SNPs, Pathways

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



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    About This Section

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