MYLK2

MYLK2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LV6, 3KF9
Identifiers
Aliases	MYLK2, KMLC, MLCK, MLCK2, skMLCK, myosin light chain kinase 2
External IDs	OMIM: 606566; MGI: 2139434; HomoloGene: 13223; GeneCards: MYLK2; OMA:MYLK2 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20q11.21 Start 31,819,308 bp End 31,834,689 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H1 Start 152,753,272 bp End 152,764,988 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh Skeletal muscle tissue of rectus abdominis gastrocnemius muscle vastus lateralis muscle biceps brachii Skeletal muscle tissue of biceps brachii tibialis anterior muscle deltoid muscle body of pancreas testicle Top expressed in muscle of thigh triceps brachii muscle temporal muscle sternocleidomastoid muscle skeletal muscle tissue quadriceps femoris muscle medial head of gastrocnemius muscle digastric muscle tibialis anterior muscle knee joint More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity calmodulin binding myosin light chain kinase activity kinase activity protein serine/threonine kinase activity protein binding calmodulin-dependent protein kinase activity ATP binding myosin light chain binding Cellular component cytoplasm sarcomere nucleus Biological process regulation of muscle filament sliding cardiac muscle contraction phosphorylation cardiac muscle tissue morphogenesis skeletal muscle satellite cell differentiation protein phosphorylation neuromuscular synaptic transmission positive regulation of gene expression skeletal muscle cell differentiation protein autophosphorylation peptidyl-threonine phosphorylation striated muscle contraction peptidyl-serine phosphorylation intracellular signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 85366 228785 Ensembl ENSG00000101306 ENSMUSG00000027470 UniProt Q9H1R3 Q8VCR8 RefSeq (mRNA) NM_033118 NM_001081044 RefSeq (protein) NP_149109 NP_001074513 Location (UCSC) Chr 20: 31.82 – 31.83 Mb Chr 2: 152.75 – 152.76 Mb PubMed search
Wikidata
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Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene.

Function

This gene encodes a myosin light chain kinase, a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. The MYLK2 gene expresses skMLCK more prevalently in fast twitch muscle fibers as compared to slow twitch muscle fibers. Calmodulin is composed of two terminal domains (N,C) each containing two E-F hand motifs that bind to Ca2+. Upon saturation of Ca2+, Calmodulin undergoes a conformation change allowing it to bind with a target protein such as skMLCK. An image depicting a similar complex (sdCen/skMLCK2) is shown under myosin light chain kinase. This binding to skMLCK increases the affinity of Ca2+ and ultimately leads to a sustained muscle action.

Clinical significance

Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy.

Further reading

• Jeronimo C, Forget D, Bouchard A (2007). "Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme". Mol. Cell. 27 (2): 262–74. doi:10.1016/j.molcel.2007.06.027. PMC 4498903. PMID 17643375.
• Junker JP, Rief M (2009). "Single-molecule force spectroscopy distinguishes target binding modes of calmodulin". Proc. Natl. Acad. Sci. U.S.A. 106 (34): 14361–6. Bibcode:2009PNAS..10614361J. doi:10.1073/pnas.0904654106. PMC 2732892. PMID 19667195.
• Roush CL, Kennelly PJ, Glaccum MB (1988). "Isolation of the cDNA encoding rat skeletal muscle myosin light chain kinase. Sequence and tissue distribution". J. Biol. Chem. 263 (21): 10510–6. doi:10.1016/S0021-9258(19)81545-4. PMID 2839493.
• Christie JD, Ma SF, Aplenc R (2008). "Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma". Crit. Care Med. 36 (10): 2794–800. doi:10.1097/CCM.0b013e318186b843. PMID 18828194. S2CID 6567908.
• Lazar V, Garcia JG (1999). "A single human myosin light chain kinase gene (MLCK; MYLK)". Genomics. 57 (2): 256–67. doi:10.1006/geno.1999.5774. PMID 10198165.
• Gerhard DS, Wagner L, Feingold EA (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Deloukas P, Matthews LH, Ashurst J (2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.}
• Soung YH, Lee JW, Kim SY (2006). "Mutational analysis of the kinase domain of MYLK2 gene in common human cancers". Pathol. Res. Pract. 202 (3): 137–40. doi:10.1016/j.prp.2005.12.003. PMID 16448786.
• Gallagher PJ, Herring BP, Stull JT (1997). "Myosin light chain kinases". J. Muscle Res. Cell. Motil. 18 (1): 1–16. doi:10.1023/A:1018616814417. PMID 9147985. S2CID 11975486.
• Strausberg RL, Feingold EA, Grouse LH (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Lanfranchi G, Muraro T, Caldara F (1996). "Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization". Genome Res. 6 (1): 35–42. doi:10.1101/gr.6.1.35. PMID 8681137.
• Toth-Zsamboki E, Oury C, Cornelissen H (2003). "P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation". J. Biol. Chem. 278 (47): 46661–7. doi:10.1074/jbc.M308452200. PMID 14500714.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.