Human Gene MYLK2 (ENST00000375985.5_4) from GENCODE V47lift37
  Description: myosin light chain kinase 2 (from RefSeq NM_033118.4)
Gencode Transcript: ENST00000375985.5_4
Gencode Gene: ENSG00000101306.11_7
Transcript (Including UTRs)
   Position: hg19 chr20:30,407,159-30,422,487 Size: 15,329 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr20:30,407,384-30,421,600 Size: 14,217 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:30,407,159-30,422,487)mRNA (may differ from genome)Protein (596 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYLK2_HUMAN
DESCRIPTION: RecName: Full=Myosin light chain kinase 2, skeletal/cardiac muscle; Short=MLCK2; EC=2.7.11.18;
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.
CATALYTIC ACTIVITY: ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate.
SUBUNIT: May interact with centrin.
SUBCELLULAR LOCATION: Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.
TISSUE SPECIFICITY: Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.
DISEASE: Defects in MYLK2 are a cause of familial hypertrophic cardiomyopathy (CMH) [MIM:192600]; also designated FHC or HCM. Familial hypertrophic cardiomyopathy is 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.
SIMILARITY: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
SIMILARITY: Contains 1 protein kinase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYLK2
Diseases sorted by gene-association score: cardiomyopathy, familial hypertrophic* (590), hypertrophic cardiomyopathy, midventricular, digenic* (500), vaginal cancer (9), long qt syndrome 1 (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 118.23 RPKM in Muscle - Skeletal
Total median expression: 132.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.60121-0.294 Picture PostScript Text
3' UTR -399.30887-0.450 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020636 - Ca/CaM-dep_Ca-dep_prot_Kinase
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3KF9 - X-ray


ModBase Predicted Comparative 3D Structure on Q9H1R3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004683 calmodulin-dependent protein kinase activity
GO:0004687 myosin light chain kinase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0006941 striated muscle contraction
GO:0007274 neuromuscular synaptic transmission
GO:0010628 positive regulation of gene expression
GO:0014816 skeletal muscle satellite cell differentiation
GO:0016310 phosphorylation
GO:0018105 peptidyl-serine phosphorylation
GO:0018107 peptidyl-threonine phosphorylation
GO:0032971 regulation of muscle filament sliding
GO:0035556 intracellular signal transduction
GO:0035914 skeletal muscle cell differentiation
GO:0046777 protein autophosphorylation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030017 sarcomere


-  Descriptions from all associated GenBank mRNAs
  KJ899864 - Synthetic construct Homo sapiens clone ccsbBroadEn_09258 MYLK2 gene, encodes complete protein.
KJ905581 - Synthetic construct Homo sapiens clone ccsbBroadEn_15203 MYLK2 gene, encodes complete protein.
AJ272502 - Homo sapiens mRNA for skeletal muscle-specific myosin light chain kinase (MLCK2 gene).
BC092413 - Homo sapiens myosin light chain kinase 2, mRNA (cDNA clone MGC:102926 IMAGE:30530456), complete cds.
BX647635 - Homo sapiens mRNA; cDNA DKFZp451D066 (from clone DKFZp451D066).
CU686948 - Synthetic construct Homo sapiens gateway clone IMAGE:100022651 5' read MYLK2 mRNA.
AB529016 - Synthetic construct DNA, clone: pF1KE0985, Homo sapiens MYLK2 gene for myosin light chain kinase 2, without stop codon, in Flexi system.
KJ895085 - Synthetic construct Homo sapiens clone ccsbBroadEn_04479 MYLK2 gene, encodes complete protein.
KR711894 - Synthetic construct Homo sapiens clone CCSBHm_00031765 MYLK2 (MYLK2) mRNA, encodes complete protein.
KR711895 - Synthetic construct Homo sapiens clone CCSBHm_00031766 MYLK2 (MYLK2) mRNA, encodes complete protein.
AF325549 - Homo sapiens skeletal myosin light chain kinase mRNA, complete cds.
BC069627 - Homo sapiens myosin light chain kinase 2, mRNA (cDNA clone MGC:97200 IMAGE:7262446), complete cds.
BC127622 - Homo sapiens myosin light chain kinase 2, mRNA (cDNA clone MGC:157650 IMAGE:40085085), complete cds.
BC007753 - Homo sapiens myosin light chain kinase 2, mRNA (cDNA clone IMAGE:4110141), partial cds.
JD497367 - Sequence 478391 from Patent EP1572962.
JD276417 - Sequence 257441 from Patent EP1572962.
JD334282 - Sequence 315306 from Patent EP1572962.
JD136562 - Sequence 117586 from Patent EP1572962.
JD464434 - Sequence 445458 from Patent EP1572962.
JD464435 - Sequence 445459 from Patent EP1572962.
JD519163 - Sequence 500187 from Patent EP1572962.
JD460365 - Sequence 441389 from Patent EP1572962.
JD150197 - Sequence 131221 from Patent EP1572962.
JD242174 - Sequence 223198 from Patent EP1572962.
JD464829 - Sequence 445853 from Patent EP1572962.
JD555349 - Sequence 536373 from Patent EP1572962.
JD210014 - Sequence 191038 from Patent EP1572962.
JD387832 - Sequence 368856 from Patent EP1572962.
JD200159 - Sequence 181183 from Patent EP1572962.
JD103884 - Sequence 84908 from Patent EP1572962.
JD177932 - Sequence 158956 from Patent EP1572962.
JD476012 - Sequence 457036 from Patent EP1572962.
JD442813 - Sequence 423837 from Patent EP1572962.
JD365368 - Sequence 346392 from Patent EP1572962.
JD217414 - Sequence 198438 from Patent EP1572962.
JD387370 - Sequence 368394 from Patent EP1572962.
JD076132 - Sequence 57156 from Patent EP1572962.
JD477549 - Sequence 458573 from Patent EP1572962.
JD098472 - Sequence 79496 from Patent EP1572962.
JD310296 - Sequence 291320 from Patent EP1572962.
JD068645 - Sequence 49669 from Patent EP1572962.
JD075569 - Sequence 56593 from Patent EP1572962.
JD484435 - Sequence 465459 from Patent EP1572962.
JD149740 - Sequence 130764 from Patent EP1572962.
JD518753 - Sequence 499777 from Patent EP1572962.
JD423733 - Sequence 404757 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000375985.1, ENST00000375985.2, ENST00000375985.3, ENST00000375985.4, MYLK2_HUMAN, NM_033118, Q569L1, Q96I84, Q9H1R3, uc318mqm.1, uc318mqm.2
UCSC ID: ENST00000375985.5_4
RefSeq Accession: NM_033118.4
Protein: Q9H1R3 (aka MYLK2_HUMAN or KML2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYLK2:
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.