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Aliases for MYLK2 Gene

Aliases for MYLK2 Gene

  • Myosin Light Chain Kinase 2 2 3
  • Myosin Light Chain Kinase 2, Skeletal Muscle 2 3
  • EC 2.7.11.18 4 64
  • MLCK2 3 4
  • MLCK 3 6
  • Myosin Light Chain Kinase 2, Skeletal/Cardiac Muscle 3
  • Skeletal Muscle Myosin Light Chain Kinase 2
  • EC 2.7.11 64
  • SkMLCK 3
  • KMLC 3

External Ids for MYLK2 Gene

Summaries for MYLK2 Gene

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 caveolinopathies and cardiomyopathy, familial hypertrophic, 1. Among its related pathways are Regulation of actin cytoskeleton 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 MYLK4.

UniProtKB/Swiss-Prot for MYLK2 Gene

  • Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYLK2 Gene

Genomics for MYLK2 Gene

Genomic Location for MYLK2 Gene

Start:
31,819,308 bp from pter
End:
31,834,697 bp from pter
Size:
15,390 bases
Orientation:
Plus strand

Genomic View for MYLK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYLK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYLK2 Gene

Regulatory Elements for MYLK2 Gene

Proteins for MYLK2 Gene

  • Protein details for MYLK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1R3-MYLK2_HUMAN
    Recommended name:
    Myosin light chain kinase 2, skeletal/cardiac muscle
    Protein Accession:
    Q9H1R3
    Secondary Accessions:
    • Q569L1
    • Q96I84

    Protein attributes for MYLK2 Gene

    Size:
    596 amino acids
    Molecular mass:
    64685 Da
    Quaternary structure:
    • May interact with centrin.

    Three dimensional structures from OCA and Proteopedia for MYLK2 Gene

neXtProt entry for MYLK2 Gene

Proteomics data for MYLK2 Gene at MOPED

Post-translational modifications for MYLK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYLK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for MYLK2 Gene

UniProtKB/Swiss-Prot:

MYLK2_HUMAN
Domain:
  • Contains 1 protein kinase domain.:
    • Q9H1R3
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.:
    • Q9H1R3
genes like me logo Genes that share domains with MYLK2: view

Function for MYLK2 Gene

Molecular function for MYLK2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MYLK2 Gene

Gene Ontology (GO) - Molecular Function for MYLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004683 calmodulin-dependent protein kinase activity ISS --
GO:0004687 myosin light chain kinase activity ISS --
GO:0004713 protein tyrosine kinase activity --
GO:0005515 protein binding IPI 21556048
genes like me logo Genes that share ontologies with MYLK2: view
genes like me logo Genes that share phenotypes with MYLK2: view

Animal Models for MYLK2 Gene

MGI Knock Outs for MYLK2:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for MYLK2 Gene

Localization for MYLK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYLK2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYLK2 Gene COMPARTMENTS Subcellular localization image for MYLK2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21556048
GO:0005737 cytoplasm IDA 21556048
GO:0030017 sarcomere IC 16448786
genes like me logo Genes that share ontologies with MYLK2: view

Pathways for MYLK2 Gene

genes like me logo Genes that share pathways with MYLK2: view

Gene Ontology (GO) - Biological Process for MYLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation --
GO:0006941 striated muscle contraction IDA 16448786
GO:0007274 neuromuscular synaptic transmission IEA --
GO:0010628 positive regulation of gene expression IDA 21556048
GO:0014816 skeletal muscle satellite cell differentiation IEA --
genes like me logo Genes that share ontologies with MYLK2: view

Compounds for MYLK2 Gene

(3) Tocris Compounds for MYLK2 Gene

Compound Action Cas Number
ML 7 hydrochloride Selective inhibitor of myosin light chain kinase [110448-33-4]
ML 9 hydrochloride Myosin light chain kinase inhibitor [105637-50-1]
MLCK inhibitor peptide Myosin light chain kinase inhibitor [198694-74-5]

(3) HMDB Compounds for MYLK2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2

(1) IUPHAR Ligand for MYLK2 Gene

Ligand Type Action Affinity Pubmed IDs
calmodulin Activator Activation

(16) Novoseek inferred chemical compound relationships for MYLK2 Gene

Compound -log(P) Hits PubMed IDs
actomyosin 56.3 3
norleucine 54.5 1
ethionine 54.1 1
selenomethionine 47.2 1
calcium 45.7 35
genes like me logo Genes that share compounds with MYLK2: view

Transcripts for MYLK2 Gene

mRNA/cDNA for MYLK2 Gene

Unigene Clusters for MYLK2 Gene

Myosin light chain kinase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYLK2 Gene

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

Relevant External Links for MYLK2 Gene

GeneLoc Exon Structure for
MYLK2
ECgene alternative splicing isoforms for
MYLK2

Expression for MYLK2 Gene

mRNA expression in normal human tissues for MYLK2 Gene

mRNA differential expression in normal tissues according to GTEx for MYLK2 Gene

This gene is overexpressed in Muscle - Skeletal (48.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYLK2 Gene

SOURCE GeneReport for Unigene cluster for MYLK2 Gene Hs.86092

mRNA Expression by UniProt/SwissProt for MYLK2 Gene

Q9H1R3-MYLK2_HUMAN
Tissue specificity: Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue
genes like me logo Genes that share expressions with MYLK2: view

Orthologs for MYLK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYLK2 36
  • 99.26 (n)
  • 99.14 (a)
MYLK2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYLK2 36
  • 87.02 (n)
  • 85.23 (a)
MYLK2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYLK2 36
  • 88.81 (n)
  • 86.91 (a)
MYLK2 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mylk2 36
  • 84.37 (n)
  • 83.98 (a)
Mylk2 16
Mylk2 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYLK2 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mylk2 36
  • 83.39 (n)
  • 82.43 (a)
chicken
(Gallus gallus)
Aves MYLK2 36
  • 69.55 (n)
  • 68.25 (a)
MYLK2 37
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYLK2 37
  • 78 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mylk2 37
  • 32 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006746 36
  • 58.91 (n)
  • 51.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta sqa 36
  • 58.8 (n)
  • 51.6 (a)
sqa 37
  • 18 (a)
OneToMany
CG1776 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea ZC373.4 37
  • 13 (a)
OneToMany
ZC373.4 38
  • 41 (a)
Species with no ortholog for MYLK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MYLK2 Gene

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

Paralogs for MYLK2 Gene

Paralogs for MYLK2 Gene

Selected SIMAP similar genes for MYLK2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYLK2: view

Variants for MYLK2 Gene

Sequence variations from dbSNP and Humsavar for MYLK2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs1009454 -- 31,819,896(-) GCCCC(C/T)ATCAT intron-variant
rs1887731 Benign 31,819,410(+) CCAGG(C/T)TGCCC utr-variant-5-prime, nc-transcript-variant
rs1887732 -- 31,825,666(+) gtcct(C/T)tctga intron-variant
rs2149281 -- 31,830,115(+) CAACT(A/G)TGGCC intron-variant
rs2182966 -- 31,820,081(+) AGGGA(A/G)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYLK2 Gene

Variant ID Type Subtype PubMed ID
nsv3346 CNV Insertion 18451855
esv2664840 CNV Deletion 23128226
esv2676878 CNV Deletion 23128226

Relevant External Links for MYLK2 Gene

HapMap Linkage Disequilibrium report
MYLK2
Human Gene Mutation Database (HGMD)
MYLK2

Disorders for MYLK2 Gene

(1) OMIM Diseases for MYLK2 Gene (606566)

UniProtKB/Swiss-Prot

MYLK2_HUMAN
  • 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. {ECO:0000269 PubMed:11733062}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for MYLK2 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 0 4

Relevant External Links for MYLK2

Genetic Association Database (GAD)
MYLK2
Human Genome Epidemiology (HuGE) Navigator
MYLK2
genes like me logo Genes that share disorders with MYLK2: view

Publications for MYLK2 Gene

  1. Mutational analysis of the kinase domain of MYLK2 gene in common human cancers. (PMID: 16448786) Soung Y.H. … Lee S.H. (Pathol. Res. Pract. 2006) 3 23 49
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. (PMID: 11733062) Davis J.S. … Epstein N.D. (Cell 2001) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for MYLK2 Gene

  • Addgene plasmids for MYLK2

Sources for MYLK2 Gene

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