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Aliases for MYLK Gene

Aliases for MYLK Gene

  • Myosin Light Chain Kinase 2 3 5
  • 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
  • MLCK 3 4
  • KRP 3 4
  • EC 2.7.11 63
  • MLCK108 3
  • MLCK210 3
  • MSTP083 3
  • AAT7 3

External Ids for MYLK Gene

Previous GeneCards Identifiers for MYLK Gene

  • GC03M120053
  • GC03M123281
  • GC03M124614
  • GC03M124653
  • GC03M124813
  • GC03M120704

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 Platelet activation and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine 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 are currently divided into two subtypes. MLCK1 is found in smooth muscle and phosphorylates myosin II regulatory light chains at Ser19. MLCK2 is located in the striated muscle.

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

Regulatory Elements for MYLK Gene

Enhancers for MYLK Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYLK on UCSC Golden Path with GeneCards custom track

Promoters for MYLK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYLK on UCSC Golden Path with GeneCards custom track

Genomic Location for MYLK Gene

Chromosome:
3
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

Genes around MYLK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYLK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYLK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for MYLK Gene

Graphical View of Domain Structure for InterPro Entry

Q15746

UniProtKB/Swiss-Prot:

MYLK_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 9 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
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:0004687 myosin light chain kinase activity IDA 16284075
genes like me logo Genes that share ontologies with MYLK: view
genes like me logo Genes that share phenotypes with MYLK: view

Human Phenotype Ontology for MYLK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYLK Gene

MGI Knock Outs for MYLK:

Flow Cytometry Products

No data available for Transcription Factor Targets 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 5
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MYLK: view

Pathways & Interactions for MYLK Gene

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

SIGNOR curated interactions for MYLK Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0014820 tonic smooth muscle contraction ISS --
GO:0032060 bleb assembly IMP 20181817
GO:0051928 positive regulation of calcium ion transport IDA 16284075
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
genes like me logo Genes that share ontologies with MYLK: view

Drugs & Compounds for MYLK Gene

(22) Drugs for MYLK Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
calmodulin Pharma Activator 0
calcium Nutra 0
Magnesium Nutra 0

(21) Additional Compounds for MYLK Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
ML 7 hydrochloride
110448-33-4
ML 9 hydrochloride
105637-50-1
MLCK inhibitor peptide
198694-74-5
MLCK inhibitor peptide 18
224579-74-2

(5) 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
MLCK inhibitor peptide 18 Selective inhibitor of myosin light chain kinase 224579-74-2
W-7 hydrochloride Calmodulin antagonist. Inhibits myosin light chain kinase 61714-27-0
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 (x5.9), Colon - Sigmoid (x5.5), and Esophagus - Gastroesophageal Junction (x5.0).

Protein differential expression in normal tissues from HIPED for MYLK Gene

This gene is overexpressed in Prostate (10.7), Cardia (9.8), Colon muscle (8.9), and Uterus (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MYLK: view

Protein tissue co-expression partners for MYLK Gene

- Elite partner

Primer Products

Orthologs for MYLK Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLK Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia MYLK 35
  • 99.35 (n)
  • 99.08 (a)
MYLK 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mylk 35
  • 85.39 (n)
  • 85.9 (a)
cow
(Bos Taurus)
Mammalia MYLK 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYLK 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYLK 36
  • 83 (a)
OneToOne
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 mylkb 35
  • 65.84 (n)
  • 64 (a)
mylka 36
  • 71 (a)
OneToMany
mylkb 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1776 37
  • 48 (a)
Strn-Mlck 37
  • 38 (a)
Strn-Mlck 36
  • 6 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZC373.4 37
  • 43 (a)
ttn-1 36
  • 3 (a)
OneToOne
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
VAR_019986 -
VAR_019987 -
rs3796164 - 123,734,214(+) CTCTC(A/G)CAAAT reference, missense
VAR_040848 -
VAR_040849 -

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

Variation tolerance for MYLK Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.07; 98.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYLK Gene

Human Gene Mutation Database (HGMD)
MYLK

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

Disorders for MYLK Gene

MalaCards: The human disease database

(12) MalaCards diseases for MYLK Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aortic aneurysm, familial thoracic 7
  • aat7
mylk-related thoracic aortic aneurysms and aortic dissections
  • aortic aneurysm, familial thoracic 7
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
aneurysm
  • aneurysms
- elite association - COSMIC cancer census association via MalaCards
Search MYLK in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MYLK

Genetic Association Database (GAD)
MYLK
Human Genome Epidemiology (HuGE) Navigator
MYLK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYLK
genes like me logo Genes that share disorders with MYLK: view

No data available for Genatlas for MYLK Gene

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 67
  2. A common cortactin gene variation confers differential susceptibility to severe asthma. (PMID: 18521921) Ma S.F. … Garcia J.G. (Genet. Epidemiol. 2008) 3 23
  3. A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans. (PMID: 17266121) Flores C. … Garcia J.G. (Genet. Epidemiol. 2007) 3 23
  4. Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury. (PMID: 16399953) Gao L. … Garcia J.G. (Am. J. Respir. Cell Mol. Biol. 2006) 3 23
  5. Enhanced activation of mitogen-activated protein kinase and myosin light chain kinase by the Pro33 polymorphism of integrin beta 3. (PMID: 12460991) Vijayan K.V. … Bray P.F. (J. Biol. Chem. 2003) 3 23

Products for MYLK Gene

Sources for MYLK Gene

Content