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Aliases for MYLK Gene

Aliases for MYLK Gene

  • Myosin Light Chain Kinase 2 3
  • MLCK 3 4 6
  • Smooth Muscle Myosin Light Chain Kinase 2 3
  • Myosin, Light Polypeptide Kinase 2 3
  • Kinase-Related Protein 3 4
  • EC 2.7.11.18 4 63
  • Telokin 3 4
  • SmMLCK 3 4
  • MLCK1 3 4
  • MYLK1 3 4
  • AAT7 3 6
  • KRP 3 4
  • Myosin Light Chain Kinase, Smooth Muscle 3
  • EC 2.7.11 63
  • MLCK108 3
  • MLCK210 3
  • MSTP083 3

External Ids for MYLK Gene

Summaries for MYLK Gene

Entrez Gene Summary for MYLK Gene

  • This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYLK Gene

MYLK (Myosin Light Chain Kinase) is a Protein Coding gene. Diseases associated with MYLK include aortic aneurysm, familial thoracic 7 and mylk-related thoracic aortic aneurysms and aortic dissections. Among its related pathways are Regulation of actin cytoskeleton and Regulation of actin cytoskeleton. GO annotations related to this gene include actin binding and myosin light chain kinase activity. An important paralog of this gene is MYLK4.

UniProtKB/Swiss-Prot for MYLK Gene

  • Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis.

Tocris Summary for MYLK 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 MYLK Gene

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

Genomics for MYLK Gene

Genomic Location for MYLK Gene

Start:
123,610,049 bp from pter
End:
123,884,331 bp from pter
Size:
274,283 bases
Orientation:
Minus strand

Genomic View for MYLK Gene

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

RefSeq DNA sequence for MYLK Gene

Regulatory Elements for MYLK Gene

Proteins for MYLK Gene

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

    Protein Symbol:
    Q15746-MYLK_HUMAN
    Recommended name:
    Myosin light chain kinase, smooth muscle
    Protein Accession:
    Q15746
    Secondary Accessions:
    • B4DUE3
    • D3DN97
    • O95796
    • O95797
    • O95798
    • O95799
    • Q14844
    • Q16794
    • Q17S15
    • Q3ZCP9
    • Q5MY99
    • Q5MYA0
    • Q6P2N0
    • Q7Z4J0
    • Q9C0L5
    • Q9UBG5
    • Q9UBY6
    • Q9UIT9

    Protein attributes for MYLK Gene

    Size:
    1914 amino acids
    Molecular mass:
    210715 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • All isoforms including Telokin bind calmodulin. Interacts with SVIL (By similarity). Interacts with CTTN; this interaction is reduced during thrombin-induced endothelial cell (EC) contraction but is promoted by the barrier-protective agonist sphingosine 1-phosphate (S1P) within lamellipodia. A complex made of ABL1, CTTN and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement. Binds to NAA10/ARD1 and PTK2B/PYK2.
    Miscellaneous:
    • In asthmatic patients, overexpression promotes actin filament propulsion, thus contributing to airway hyperresponsiveness. Some MYLK variants may contribute to acute lung injury (ALI) susceptibility. Potential therapeutic target in the treatment of burn edema
    SequenceCaution:
    • Sequence=AAD15922.1; Type=Frameshift; Positions=1433; Evidence={ECO:0000305}; Sequence=AAD15923.1; Type=Frameshift; Positions=1433; Evidence={ECO:0000305}; Sequence=AAD15924.1; Type=Frameshift; Positions=1433; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYLK Gene

    Alternative splice isoforms for MYLK Gene

neXtProt entry for MYLK Gene

Proteomics data for MYLK Gene at MOPED

Post-translational modifications for MYLK Gene

  • Acetylated at Lys-608 by NAA10/ARD1 via a calcium-dependent signaling; this acetylation represses kinase activity and reduces tumor cell migration.
  • Can probably be down-regulated by phosphorylation. Tyrosine phosphorylation by ABL1 increases kinase activity, reverses MLCK-mediated inhibition of Arp2/3-mediated actin polymerization, and enhances CTTN-binding. Phosphorylation by SRC at Tyr-464 and Tyr-471 promotes CTTN binding.
  • The C-terminus is deglutamylated by AGTPBP1/CCP1, AGBL1/CCP4 and AGBL4/CCP6, leading to the formation of Myosin light chain kinase, smooth muscle, deglutamylated form. The consequences of C-terminal deglutamylation are unknown (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for MYLK Gene

Gene Families for MYLK Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q15746

UniProtKB/Swiss-Prot:

MYLK_HUMAN
Domain:
  • Contains 1 fibronectin type-III domain.:
    • Q15746
  • Contains 9 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q15746
  • Contains 1 protein kinase domain.:
    • Q15746
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.:
    • Q15746
genes like me logo Genes that share domains with MYLK: view

Function for MYLK Gene

Molecular function for MYLK Gene

GENATLAS Biochemistry: myosin,light chain kinase,Ca2+/calmodulin dependent,expressed in smooth muscle and four non muscle isoforms,including a short isoform named telokin (KRP-kinase related protein),expressed noteworthy in neurons and glia,in liver,lung and kidney and endothelial cells (hippocampus,entorhinal and frontal cortex),stimulating myosin ATPase activity without phosphorylating myosin light chain
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=6.5 uM for MLC (isoform 1 at 22 degrees Celsius) {ECO:0000269 PubMed:11113114}; KM=7.2 uM for MLC (isoform 2 at 22 degrees Celsius) {ECO:0000269 PubMed:11113114}; Vmax=11.9 umol/min/mg enzyme (isoform 1 at 22 degrees Celsius) {ECO:0000269 PubMed:11113114}; Vmax=10.9 umol/min/mg enzyme (isoform 1 at 22 degrees Celsius) {ECO:0000269 PubMed:11113114};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Isoform 1 is activated by phosphorylation on Tyr-464 and Tyr-471. Isoforms which lack these tyrosine residues are not regulated in this way. All catalytically active isoforms require binding to calcium and calmodulin for activation. Repressed by organometallic pyridylnaphthalimide complexes, wortmannin, ML-7 (a synthetic naphthalenesulphonyl derivative that inhibits the binding of ATP to MLCK) and ML-9.
UniProtKB/Swiss-Prot Function: Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis.
UniProtKB/Swiss-Prot Induction: Accumulates in individuals with asthma (at protein levels). Induced by tumor necrosis factor (TNF). Repressed by androgens (e.g. R1881).

Enzyme Numbers (IUBMB) for MYLK Gene

Gene Ontology (GO) - Molecular Function for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004672 protein kinase activity --
GO:0004683 calmodulin-dependent protein kinase activity IBA --
GO:0004687 myosin light chain kinase activity IDA 16284075
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with MYLK: view
genes like me logo Genes that share phenotypes with MYLK: view

Animal Models for MYLK Gene

MGI Knock Outs for MYLK:

miRNA for MYLK Gene

miRTarBase miRNAs that target MYLK

No data available for Transcription Factor Targeting and HOMER Transcription for MYLK Gene

Localization for MYLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYLK Gene

Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYLK Gene COMPARTMENTS Subcellular localization image for MYLK gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 4
endoplasmic reticulum 2
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 15020676
GO:0005737 cytoplasm IDA 20053363
GO:0005829 cytosol TAS --
GO:0005911 cell-cell junction IEA --
GO:0030027 lamellipodium IDA 20053363
genes like me logo Genes that share ontologies with MYLK: view

Pathways for MYLK Gene

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

Gene Ontology (GO) - Biological Process for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006468 protein phosphorylation IEA --
GO:0006936 muscle contraction TAS --
GO:0006939 smooth muscle contraction ISS --
GO:0007015 actin filament organization IBA --
genes like me logo Genes that share ontologies with MYLK: view

Compounds for MYLK Gene

(3) Tocris Compounds for MYLK 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]

(4) HMDB Compounds for MYLK 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
Magnesium
  • Magnesium
7439-95-4

(1) IUPHAR Ligand for MYLK Gene

Ligand Type Action Affinity Pubmed IDs
calmodulin Activator Activation

(36) Novoseek inferred chemical compound relationships for MYLK Gene

Compound -log(P) Hits PubMed IDs
blebbistatin 84 3
kt 5926 80.1 5
actomyosin 74.3 7
calyculin a 65.7 1
wortmannin 44.3 6
genes like me logo Genes that share compounds with MYLK: view

Transcripts for MYLK Gene

Unigene Clusters for MYLK Gene

Myosin light chain kinase:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e ^ 19 ^ 20a ·
SP1: - - - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - -
SP6: - -
SP7: - -
SP8: -
SP9: - -
SP10: - -
SP11:
SP12:

ExUns: 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6: - -
SP7: -
SP8: - -
SP9: -
SP10: - - - - - -
SP11: -
SP12:

Relevant External Links for MYLK Gene

GeneLoc Exon Structure for
MYLK
ECgene alternative splicing isoforms for
MYLK

Expression for MYLK Gene

mRNA expression in normal human tissues for MYLK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Esophagus - Muscularis (5.9), Colon - Sigmoid (5.5), and Esophagus - Gastroesophageal Junction (5.0).

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

SOURCE GeneReport for Unigene cluster for MYLK Gene Hs.477375

mRNA Expression by UniProt/SwissProt for MYLK Gene

Q15746-MYLK_HUMAN
Tissue specificity: Smooth muscle and non-muscle isozymes are expressed in a wide variety of adult and fetal tissues and in cultured endothelium with qualitative expression appearing to be neither tissue- nor development-specific. Non-muscle isoform 2 is the dominant splice variant expressed in various tissues. Telokin has been found in a wide variety of adult and fetal tissues. Accumulates in well differentiated enterocytes of the intestinal epithelium in response to tumor necrosis factor (TNF).
genes like me logo Genes that share expressions with MYLK: view

Orthologs for MYLK Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYLK 35
  • 99.35 (n)
  • 99.08 (a)
MYLK 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYLK 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYLK 35
  • 88.86 (n)
  • 88.95 (a)
MYLK 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mylk 35
  • 85.47 (n)
  • 85.54 (a)
Mylk 16
Mylk 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYLK 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYLK 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mylk 35
  • 85.39 (n)
  • 85.9 (a)
chicken
(Gallus gallus)
Aves MYLK 35
  • 68.72 (n)
  • 71.35 (a)
MYLK 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYLK 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489678 35
  • 54.69 (n)
  • 48.44 (a)
zebrafish
(Danio rerio)
Actinopterygii mylka 36
  • 71 (a)
OneToMany
mylkb 35
  • 65.84 (n)
  • 64 (a)
mylkb 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Strn-Mlck 36
  • 6 (a)
OneToOne
Strn-Mlck 37
  • 38 (a)
CG1776 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea ttn-1 36
  • 3 (a)
OneToOne
ZC373.4 37
  • 43 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3256 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10337 36
  • 36 (a)
OneToOne
Species with no ortholog for MYLK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MYLK Gene

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

Paralogs for MYLK Gene

Paralogs for MYLK Gene

Pseudogenes.org Pseudogenes for MYLK Gene

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

Variants for MYLK Gene

Sequence variations from dbSNP and Humsavar for MYLK Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs17125 -- 123,793,136(-) ACAAA(C/T)AGGCA intron-variant
rs33256 -- 123,717,438(-) GGGTA(A/G)GTTAA intron-variant
rs33257 -- 123,717,267(-) ACCAG(A/C/G/T)CACTC intron-variant
rs33258 -- 123,716,871(-) TATAC(A/C/G/T)TGTAC intron-variant
rs33259 -- 123,716,725(-) CGCAG(C/G)ATTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829708 CNV Gain 17160897
nsv829709 CNV Loss 17160897
nsv460837 CNV Gain 19166990
esv998431 CNV Deletion 20482838
nsv829710 CNV Gain 17160897
esv2281404 CNV Deletion 18987734
nsv518633 CNV Gain 19592680
nsv460838 CNV Loss 19166990
nsv3979 CNV Insertion 18451855
nsv508946 CNV Insertion 20534489

Relevant External Links for MYLK Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYLK Gene

Disorders for MYLK Gene

(1) OMIM Diseases for MYLK Gene (600922)

UniProtKB/Swiss-Prot

MYLK_HUMAN
  • Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:21055718}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MYLK Gene

(12) Novoseek inferred disease relationships for MYLK Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 22.9 2
carcinosarcoma 21.4 2
asthma 12.2 5
edema 11.5 1
cholera 0 1

Relevant External Links for MYLK

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

Publications for MYLK Gene

  1. The human myosin light chain kinase (MLCK) from hippocampus: cloning, sequencing, expression, and localization to 3qcen-q21. (PMID: 8575746) Potier M.-C. … Turnell W.G. (Genomics 1995) 2 3 4 23
  2. A single human myosin light chain kinase gene (MLCK; MYLK). (PMID: 10198165) Lazar V.L. … Garcia J.G.N. (Genomics 1999) 3 4 23
  3. Analysis of the kinase-related protein gene found at human chromosome 3q21 in a multi-gene cluster: organization, expression, alternative splicing and polymorphic marker. (PMID: 10536370) Watterson D.M. … Haiech J. (J. Cell. Biochem. 1999) 3 4 23
  4. Differential regulation of alternatively spliced endothelial cell myosin light chain kinase isoforms by p60(Src). (PMID: 11113114) Birukov K.G. … Garcia J.G.N. (J. Biol. Chem. 2001) 3 4 23
  5. Myosin light chain kinase in endothelium: molecular cloning and regulation. (PMID: 9160829) Garcia J.G.N. … Verin A.D. (Am. J. Respir. Cell Mol. Biol. 1997) 3 4 23

Products for MYLK Gene

Sources for MYLK Gene

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