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)[1] Band 20q11.21 Start 31,819,308 bp[1] End 31,834,689 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H1 Start 152,753,272 bp[2] End 152,764,988 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle vastus lateralis muscle biceps brachii tibialis anterior muscle deltoid muscle body of pancreas trabecular bone body of tongue jejunum ganglionic eminence Top expressed in triceps brachii muscle temporal muscle sternocleidomastoid muscle skeletal muscle tissue quadriceps femoris muscle digastric muscle tibialis anterior muscle knee joint vastus lateralis muscle intercostal muscle 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 [3] [4]
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.^[5]

Function

This gene encodes a myosin light chain kinase, a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.^[6] 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.^[7]

Clinical significance

Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy.^[5]

References

Further reading

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

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

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