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Aliases for MYLK2 Gene

Aliases for MYLK2 Gene

  • Myosin Light Chain Kinase 2 2 3 5
  • Myosin Light Chain Kinase 2, Skeletal Muscle 2 3
  • MLCK2 3 4
  • Myosin Light Chain Kinase 2, Skeletal/Cardiac Muscle 3
  • Skeletal Muscle Myosin Light Chain Kinase 2
  • EC 2.7.11.18 4
  • SkMLCK 3
  • KMLC 3
  • MLCK 3

External Ids for MYLK2 Gene

Previous GeneCards Identifiers for MYLK2 Gene

  • GC20P030195
  • GC20P031105
  • GC20P031152
  • GC20P029870
  • GC20P030407
  • GC20P027196

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 Cardiomyopathy, Familial Hypertrophic, 1 and Vaginal Cancer. Among its related pathways are Focal Adhesion and Apelin signaling pathway. Gene Ontology (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 MYLK3.

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 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 MYLK2 Gene

Additional gene information for MYLK2 Gene

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

Genomics for MYLK2 Gene

GeneHancer (GH) Regulatory Elements for MYLK2 Gene

Promoters and enhancers for MYLK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J031819 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 681.2 +0.5 520 2.1 SCRT1 ZFHX2 KLF1 SCRT2 ATF2 EGR2 MYLK2 GC20M031845
GH20J031818 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 -0.8 -841 0.1 MYLK2 ENSG00000230801
GH20J031709 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.8 -102.1 -102120 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BCL2L1 ASXL1 TM9SF4 PLAGL2 MYLK2 COX4I2 PDRG1 DEFB121 RNU1-94P DEFB122
GH20J031601 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.9 -211.9 -211856 11.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ID1 GC20P031606 MIR3193 ASXL1 TM9SF4 MYLK2 COX4I2 HM13 RNU6-384P HM13-AS1
GH20J031840 Enhancer 1.4 Ensembl ENCODE dbSUPER 43.7 +24.7 24727 6.6 HDGF PKNOX1 SIN3A YBX1 ZNF48 TCF12 GLIS2 ZNF207 ZNF143 ATF7 GC20M031845 FOXS1 ASXL1 MYLK2 POFUT1 TSPY26P TTLL9 TM9SF4 BAK1P1 PLAGL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYLK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYLK2 gene promoter:
  • E47
  • Pax-4a
  • CHOP-10
  • C/EBPalpha
  • Hand1
  • AREB6
  • SRF (504 AA)
  • SRF
  • ZID
  • YY1

Genomic Locations for MYLK2 Gene

Genomic Locations for MYLK2 Gene
chr20:31,819,308-31,834,697
(GRCh38/hg38)
Size:
15,390 bases
Orientation:
Plus strand
chr20:30,407,111-30,422,500
(GRCh37/hg19)
Size:
15,390 bases
Orientation:
Plus strand

Genomic View for MYLK2 Gene

Genes around MYLK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYLK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYLK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MYLK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYLK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYLK2 Gene

Domains & Families for MYLK2 Gene

Gene Families for MYLK2 Gene

IUPHAR :
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MYLK2 Gene

Suggested Antigen Peptide Sequences for MYLK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1R3

UniProtKB/Swiss-Prot:

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

Function for MYLK2 Gene

Molecular function for MYLK2 Gene

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

Enzyme Numbers (IUBMB) for MYLK2 Gene

Phenotypes From GWAS Catalog for MYLK2 Gene

Gene Ontology (GO) - Molecular Function for MYLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004683 calmodulin-dependent protein kinase activity ISS --
GO:0004687 myosin light chain kinase activity ISS --
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

Human Phenotype Ontology for MYLK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYLK2 Gene

MGI Knock Outs for MYLK2:

Animal Model Products

miRNA for MYLK2 Gene

Clone Products

  • Addgene plasmids for MYLK2

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYLK2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

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,IEA 21556048
GO:0030017 sarcomere IC 16448786
genes like me logo Genes that share ontologies with MYLK2: view

Pathways & Interactions 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 IEA --
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

No data available for SIGNOR curated interactions for MYLK2 Gene

Drugs & Compounds for MYLK2 Gene

(17) Drugs for MYLK2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Prenylamine Withdrawn Pharma Target, inhibitor 0
calmodulin Pharma Activation, Activator 0

(5) Additional Compounds for MYLK2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0

(2) Tocris Compounds for MYLK2 Gene

Compound Action Cas Number
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
MLCK inhibitor peptide 18 Selective inhibitor of myosin light chain kinase 224579-74-2

(1) ApexBio Compounds for MYLK2 Gene

Compound Action Cas Number
ML-7 hydrochloride Myosin light chain kinase inhibitor 110448-33-4
genes like me logo Genes that share compounds with MYLK2: view

Drug Products

Transcripts for MYLK2 Gene

mRNA/cDNA for MYLK2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(34) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYLK2 Gene

Myosin light chain kinase 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for MYLK2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MYLK2 Gene

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

This gene is overexpressed in Muscle - Skeletal (x48.2).

Protein differential expression in normal tissues from HIPED for MYLK2 Gene

This gene is overexpressed in Tonsil (37.8) and Heart (31.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYLK2 Gene



Protein tissue co-expression partners for MYLK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYLK2 Gene:

MYLK2

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.

Evidence on tissue expression from TISSUES for MYLK2 Gene

  • Muscle(4.8)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYLK2 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
Regions:
Head and neck:
  • ear
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with MYLK2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MYLK2 Gene

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 34 33
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYLK2 34 33
  • 88.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYLK2 34 33
  • 87.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mylk2 16 34 33
  • 84.37 (n)
rat
(Rattus norvegicus)
Mammalia Mylk2 33
  • 83.39 (n)
oppossum
(Monodelphis domestica)
Mammalia MYLK2 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYLK2 34 33
  • 69.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYLK2 34
  • 78 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mylk2 34
  • 32 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006746 33
  • 58.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta sqa 34 33
  • 58.8 (n)
OneToMany
CG1776 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea ZC373.4 34 35
  • 13 (a)
OneToMany
Species where no ortholog for MYLK2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYLK2: view image

Paralogs for MYLK2 Gene

Paralogs for MYLK2 Gene

(8) SIMAP similar genes for MYLK2 Gene using alignment to 1 proteins:

  • MYLK2_HUMAN
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 Variation AA Info Type
rs1004709246 uncertain-significance, Hypertrophic cardiomyopathy 31,820,278(+) C/T coding_sequence_variant, missense_variant
rs1049698494 uncertain-significance, Hypertrophic cardiomyopathy 31,834,084(+) C/G/T 3_prime_UTR_variant
rs1060500984 uncertain-significance, Familial hypertrophic cardiomyopathy 1 31,820,129(+) A/G coding_sequence_variant, missense_variant
rs1060500985 uncertain-significance, Familial hypertrophic cardiomyopathy 1 31,821,648(+) T/C coding_sequence_variant, missense_variant
rs111730367 likely-benign, Hypertrophic cardiomyopathy 31,834,333(+) C/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
nsv3346 CNV insertion 18451855
esv3645657 CNV loss 21293372
esv2676878 CNV deletion 23128226
esv2664840 CNV deletion 23128226
dgv4300n100 CNV gain 25217958

Variation tolerance for MYLK2 Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYLK2 Gene

Human Gene Mutation Database (HGMD)
MYLK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYLK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYLK2 Gene

Disorders for MYLK2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYLK2 Gene - From: HGMD, OMIM, GTR, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 1
  • cmh1
vaginal cancer
  • malignant neoplasm of vagina
long qt syndrome 1
  • lqt1
- elite association - COSMIC cancer census association via MalaCards
Search MYLK2 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MYLK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYLK2: view

No data available for Genatlas for MYLK2 Gene

Publications for MYLK2 Gene

  1. Mutational analysis of the kinase domain of MYLK2 gene in common human cancers. (PMID: 16448786) Soung YH … Lee SH (Pathology, research and practice 2006) 3 22 44 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. (PMID: 11733062) Davis JS … Epstein ND (Cell 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MYLK2 Gene

Sources for MYLK2 Gene

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