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] See more...

Aliases for MYLK2 Gene

Aliases for MYLK2 Gene

  • Myosin Light Chain Kinase 2 2 3 5
  • MLCK2 2 3 4
  • Myosin Light Chain Kinase 2, Skeletal/Cardiac Muscle 3 4
  • Myosin Light Chain Kinase 2, Skeletal Muscle 2 3
  • EC 2.7.11.18 4 50
  • SkMLCK 2 3
  • KMLC 2 3
  • Skeletal Muscle Myosin Light Chain Kinase 2
  • EC 2.7.11 50
  • MYLK2 5
  • 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 Atrial Standstill 1. Among its related pathways are Apelin signaling pathway and cGMP-PKG 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 Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYLK2 Gene

Genomics for MYLK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 281.2 +0.8 788 2.6 ATF2 NFIC JUND SCRT1 KLF1 EGR2 DACH1 ATF7 ZFHX2 KDM1A MYLK2 lnc-TPX2-2 FOXS1
GH20J031818 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 -0.8 -841 0.1 HSALNG0129516 MYLK2 TPX2
GH20J031709 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.8 -102.1 -102083 14.8 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF654 ZNF600 SSRP1 JUND ZNF592 BCL2L1 TM9SF4 ASXL1 PLAGL2 MYLK2 MCTS2P COX4I2 BAK1P1 POFUT1 TSPY26P
GH20J031840 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 43.7 +24.2 24214 5.5 NFIC ZIC2 CHD4 PLRG1 FOXA1 NR2C1 MCM3 RAD51 HES1 SP2 lnc-DUSP15-1 ASXL1 MYLK2 TM9SF4 BAK1P1 TSPY26P TTLL9 PLAGL2 POFUT1 PDRG1
GH20J031601 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.9 -211.9 -211856 11.5 BCLAF1 SP1 MYC ZNF207 IKZF1 NCOR1 ZNF600 ZNF654 SSRP1 JUND ID1 MIR3193 ASXL1 TM9SF4 MYLK2 MCTS2P COX4I2 HM13 POFUT1 RNU6-384P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYLK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYLK2

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

Genomic Locations for MYLK2 Gene

Latest Assembly
chr20:31,819,308-31,834,689
(GRCh38/hg38)
Size:
15,382 bases
Orientation:
Plus strand

Previous Assembly
chr20:30,407,159-30,422,487
(GRCh37/hg19 by Entrez Gene)
Size:
15,329 bases
Orientation:
Plus strand

chr20:30,407,111-30,422,492
(GRCh37/hg19 by Ensembl)
Size:
15,382 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

Selected DME Specific Peptides for MYLK2 Gene

Q9H1R3:
  • NWYFDEETFEAVSDEAKDFVSNL
  • GVITYMLLSGLSPFLGDDDTETLNNVLS
  • GELFERI
  • LFMEYIEGGELFERIVDEDY
  • TGLKLAAKVIKKQTPKDKEMV
  • GSPAFLHSPSCPA
  • EKLKVNFGTPEFL
  • IIDFGLA
  • LHLDLKP

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 & Families for MYLK2 Gene

Gene Families for MYLK2 Gene

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

Suggested Antigen Peptide Sequences for MYLK2 Gene

GenScript: Design optimal peptide antigens:
  • Myosin light chain kinase 2, skeletal/cardiac muscle (MYLK2_HUMAN)

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:
Reaction=ATP + L-seryl-[myosin light chain] = ADP + H(+) + O-phospho-L-seryl-[myosin light chain]; Xref=Rhea:RHEA:22004, Rhea:RHEA-COMP:13684, Rhea:RHEA-COMP:13685, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.18;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[myosin light chain] = ADP + H(+) + O-phospho-L-threonyl-[myosin light chain]; Xref=Rhea:RHEA:53900, Rhea:RHEA-COMP:13686, Rhea:RHEA-COMP:13687, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.18;.

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:0000166 nucleotide binding IEA --
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 --
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:

miRNA for MYLK2 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 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 IBA,IDA 21556048
GO:0030017 sarcomere IC 16448786
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with MYLK2: view

Pathways & Interactions for MYLK2 Gene

PathCards logo

SuperPathways for MYLK2 Gene

SuperPathway Contained pathways
1 Focal Adhesion
2 Oxytocin signaling pathway
3 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
4 Immune response CCR3 signaling in eosinophils
.51
.51
5 Apelin signaling pathway
genes like me logo Genes that share pathways with MYLK2: view

Pathways by source for MYLK2 Gene

6 GeneGo (Thomson Reuters) pathways for MYLK2 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Immune response CCR3 signaling in eosinophils
  • Inhibitory action of Lipoxins on neutrophil migration

SIGNOR curated interactions for MYLK2 Gene

Activates:

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 IBA,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

Drugs & Compounds for MYLK2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Prenylamine Approved, Withdrawn Pharma Target, inhibitor 0
ATP Investigational Nutra 0
calmodulin Pharma Activator, Activation 0
Calcium Nutra 6959

(4) 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
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 for research

Transcripts for MYLK2 Gene

mRNA/cDNA for MYLK2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for MYLK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYLK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.6)

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

Primer products for research

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 29 30
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYLK2 29 30
  • 88.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYLK2 29 30
  • 87.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mylk2 29 16 30
  • 84.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mylk2 29
  • 83.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia MYLK2 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYLK2 29 30
  • 69.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYLK2 30
  • 78 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii mylk2 30
  • 32 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006746 29
  • 58.91 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta sqa 29 30
  • 58.8 (n)
OneToMany
CG1776 31
  • 48 (a)
Worm
(Caenorhabditis elegans)
Secernentea ZC373.4 30 31
  • 13 (a)
OneToMany
Species where no ortholog for MYLK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for MYLK2

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYLK2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1001512 Uncertain Significance: Familial hypertrophic cardiomyopathy 1 31,826,852(+) G/A
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys)
MISSENSE
1006478 Uncertain Significance: Familial hypertrophic cardiomyopathy 1 31,831,812(+) G/C
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln)
MISSENSE
1007335 Uncertain Significance: Familial hypertrophic cardiomyopathy 1 31,820,257(+) G/A
NM_033118.4(MYLK2):c.184G>A (p.Gly62Arg)
MISSENSE
1008054 Uncertain Significance: Familial hypertrophic cardiomyopathy 1 31,826,608(+) A/G
NM_033118.4(MYLK2):c.976A>G (p.Met326Val)
MISSENSE
1016759 Uncertain Significance: Familial hypertrophic cardiomyopathy 1 31,820,543(+) C/T
NM_033118.4(MYLK2):c.470C>T (p.Ser157Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYLK2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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
Leiden Open Variation Database (LOVD)
MYLK2

SNP Genotyping and Copy Number Assays for research

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

Disorders for MYLK2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MYLK2 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 1
  • cmh1
atrial standstill 1
  • atrst1
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • icf1
left ventricular noncompaction
  • left ventricular hypertrabeculation
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for MYLK2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  2. Single-molecule force spectroscopy distinguishes target binding modes of calmodulin. (PMID: 19667195) Junker JP … Rief M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 22
  3. 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
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. 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

Products for MYLK2 Gene

Sources for MYLK2 Gene