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    MYLK2 myosin light chain kinase 2 [ Homo sapiens ]

    Gene ID: 85366, updated on 19-May-2012
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    Summary

    Official Symbol
    MYLK2provided by HGNC
    Official Full Name
    myosin light chain kinase 2provided by HGNC
    Primary source
    HGNC:16243
    See related
    Ensembl:ENSG00000101306; HPRD:05953; MIM:606566; Vega:OTTHUMG00000032194
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMLC; MLCK; MLCK2; skMLCK
    Summary
    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]
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    Genomic context

    Location :
    20q13.31
    Sequence :
    Chromosome: 20; NC_000020.10 (30407178..30422500)
    See MYLK2 in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene BCL2-like 1 Neighboring gene TPX2, microtubule-associated, homolog (Xenopus laevis) Neighboring gene chromosome 20 open reading frame 57 Neighboring gene forkhead box S1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase. Jiang W, et al. Mol Cell, 2011 Jul 8. PMID 21726808.
    2. Proteomic and biochemical analysis of 14-3-3-binding proteins during C2-ceramide-induced apoptosis. Pozuelo-Rubio M. FEBS J, 2010 Aug. PMID 20618440.
    3. Single-molecule force spectroscopy distinguishes target binding modes of calmodulin. Junker JP, et al. Proc Natl Acad Sci U S A, 2009 Aug 25. PMID 19667195.
    4. System-wide changes to SUMO modifications in response to heat shock. Golebiowski F, et al. Sci Signal, 2009 May 26. PMID 19471022.
    5. Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma. Christie JD, et al. Crit Care Med, 2008 Oct. PMID 18828194.

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that that the prototypical CaM target sequence skMLCK, a fragment from skeletal muscle myosin light chain kinase, binds to CaM in a highly cooperative way, while only a lower degree of interdomain binding cooperativity emerges for CaMKK.
      Title: Single-molecule force spectroscopy distinguishes target binding modes of calmodulin.
    2. MYLK gene is a risk factor for the development of acute lung injuries.
      Title: Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.
    4. These data suggest that the kinase domain of MYLK2 is rarely mutated in common human carcinomas and that it does not play a dominant role in cancer pathogenesis.
      Title: Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.
    5. the P2X1-ERK2-Myosin Light Chain Kinase axis contributes to collagen-induced platelet activation by enhancing platelet degranulation
      Title: P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Cardiomyopathy, hypertrophic, midventricular, digenic

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:124494 BioGRID:109212 GTF2A1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124494 BioGRID:111136 PCK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124494 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124494 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    calmodulin binding IC
    Inferred by Curator
    more info
    		 PubMed 
    calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    calmodulin-dependent protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    myosin light chain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    myosin light chain kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    myosin light chain kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    cardiac muscle contraction IC
    Inferred by Curator
    more info
    		 PubMed 
    cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		  
    positive regulation of cellular component movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of fast-twitch skeletal muscle fiber contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		  
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		  
    regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of muscle filament sliding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    satellite cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    skeletal muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    		  
    striated muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    synaptic vesicle transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    water transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    sarcomere IC
    Inferred by Curator
    more info
    		 PubMed 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    terminal button IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    myosin light chain kinase 2, skeletal/cardiac muscle
    Names
    myosin light chain kinase 2, skeletal/cardiac muscle
    myosin light chain kinase 2, skeletal muscle
    NP_149109.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012847.1 RefSeqGene

      Range
      5001..20323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033118.3 → NP_149109.1  myosin light chain kinase 2, skeletal/cardiac muscle

      Status: REVIEWED

      Source sequence(s)
      BC092413, F22840
      Consensus CDS
      CCDS13191.1
      UniProtKB/Swiss-Prot
      Q9H1R3
      Related
      ENSP00000365152, OTTHUMP00000030560, ENST00000375985, OTTHUMT00000078582
      Conserved Domains (2) summary
      cd00180
      Location:291 – 538
      Blast Score: 487
      PKc; Catalytic domain of Protein Kinases
      smart00220
      Location:291 – 540
      Blast Score: 716
      S_TKc; Serine/Threonine protein kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p5 Primary Assembly

      Range
      30407178..30422500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      27196099..27211421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL160175.5 CAC10006.1
    genomic CH471077.2 EAW76414.1
      EAW76415.1
      EAW76416.1
      EAW76417.1
    mRNA AF325549.1 AAK15494.1
    mRNA AJ272502.1 CAC81354.1
    mRNA BC007753.1 AAH07753.1
    mRNA BC069627.1 AAH69627.1
    mRNA BC092413.1 AAH92413.1
    mRNA BC127622.1 AAI27623.1
    mRNA BX647635.1 None
    mRNA F22840.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1R3.3 GenPept UniProtKB/Swiss-Prot:Q9H1R3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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