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MYLK2 myosin light chain kinase 2 [ Homo sapiens (human) ]

Gene ID: 85366, updated on 5-Mar-2024

Summary

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Official Symbol
MYLK2provided by HGNC
Official Full Name
myosin light chain kinase 2provided by HGNC
Primary source
HGNC:HGNC:16243
See related
Ensembl:ENSG00000101306 MIM:606566; AllianceGenome:HGNC:16243
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KMLC; MLCK; MLCK2; skMLCK
Summary
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]
Expression
Biased expression in esophagus (RPKM 3.0), prostate (RPKM 2.0) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
20q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31819356..31834684)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33543964..33559292)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30407159..30422487)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene BCL2 like 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30310290-30311045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30311046-30311800 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30316344-30316520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17699 Neighboring gene apoptotic BCL2L1-antisense long non-coding RNA Neighboring gene TPX2 microtubule nucleation factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30373423-30373922 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30376059-30376558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30403487-30404289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30407643-30408184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30411041-30411568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30411569-30412095 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30412296-30412796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30414489-30414989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30421849-30422479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30424845-30425692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30432791-30433348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12766 Neighboring gene dual specificity phosphatase 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12768 Neighboring gene forkhead box S1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30467121-30467620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17702 Neighboring gene tubulin tyrosine ligase like 9 Neighboring gene RNA, U1 small nuclear 94, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Myosin light chain kinase and the role of myosin light chain phosphorylation in skeletal muscle. Stull JT, et al. Arch Biochem Biophys, 2011 Jun 15. PMID 21284933, Free PMC Article
  2. Myosin light chain kinases. Gallagher PJ, et al. J Muscle Res Cell Motil, 1997 Feb. PMID 9147985
  3. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy. Qin X, et al. Int Heart J, 2021 Jan 30. PMID 33455984
  4. Mutational analysis of the kinase domain of MYLK2 gene in common human cancers. Soung YH, et al. Pathol Res Pract, 2006. PMID 16448786
  5. Isolation of the cDNA encoding rat skeletal muscle myosin light chain kinase. Sequence and tissue distribution. Roush CL, et al. J Biol Chem, 1988 Jul 25. PMID 2839493

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel tumor suppressor role of myosin light chain kinase splice variants through downregulation of the TEAD4/CD44 axis.
    Title: A novel tumor suppressor role of myosin light chain kinase splice variants through downregulation of the TEAD4/CD44 axis.
  2. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.
    Title: FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.
  3. Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations.
    Title: Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.
  4. Data show that that the prototypical CaM target sequence skMLCK, a fragment from skeletal muscle myosin light chain kinase, binds to CaM in a highly cooperative way, while only a lower degree of interdomain binding cooperativity emerges for CaMKK.
    Title: Single-molecule force spectroscopy distinguishes target binding modes of calmodulin.
  5. MYLK gene is a risk factor for the development of acute lung injuries.
    Title: Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.
  7. These data suggest that the kinase domain of MYLK2 is rarely mutated in common human carcinomas and that it does not play a dominant role in cancer pathogenesis.
    Title: Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.
  8. the P2X1-ERK2-Myosin Light Chain Kinase axis contributes to collagen-induced platelet activation by enhancing platelet degranulation
    Title: P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypertrophic cardiomyopathy 1
MedGen: C3495498 OMIM: 192600 GeneReviews: Hypertrophic Cardiomyopathy Overview
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of myosin light chain kinase 2 (MYLK2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin binding IC
Inferred by Curator
more info
 PubMed 
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables calmodulin-dependent protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables myosin light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables myosin light chain kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables myosin light chain kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables myosin light chain kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle contraction IC
Inferred by Curator
more info
 PubMed 
involved_in cardiac muscle tissue morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of muscle filament sliding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in skeletal muscle cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in skeletal muscle satellite cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in striated muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in striated muscle contraction IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcomere IC
Inferred by Curator
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myosin light chain kinase 2, skeletal/cardiac muscle
Names
myosin light chain kinase 2, skeletal muscle
NP_149109.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012847.1 RefSeqGene

    Range
    5001..20323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_392

mRNA and Protein(s)

  1. NM_033118.4 → NP_149109.1  myosin light chain kinase 2, skeletal/cardiac muscle

    See identical proteins and their annotated locations for NP_149109.1

    Status: REVIEWED

    Source sequence(s)
    AL160175, BC092413
    Consensus CDS
    CCDS13191.1
    UniProtKB/Swiss-Prot
    Q569L1, Q96I84, Q9H1R3
    Related
    ENSP00000365152.4, ENST00000375985.5
    Conserved Domains (1) summary
    cd14190
    Location:280 → 540
    STKc_MLCK2; Catalytic domain of the Serine/Threonine Kinase, Myosin Light Chain Kinase 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31819356..31834684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33543964..33559292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H1R3.3 GenPept UniProtKB/Swiss-Prot:Q9H1R3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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