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MYLK2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
MYLK2
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

2LV6,3KF9

Identifiers
AliasesMYLK2, KMLC, MLCK, MLCK2, skMLCK, myosin light chain kinase 2
External IDsOMIM:606566;MGI:2139434;HomoloGene:13223;GeneCards:MYLK2;OMA:MYLK2 - orthologs
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for MYLK2
Genomic location for MYLK2
Band20q11.21Start31,819,308bp[1]
End31,834,689bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for MYLK2
Genomic location for MYLK2
Band2|2 H1Start152,753,272bp[2]
End152,764,988bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 2: 152.75 – 152.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myosin light chain kinase 2 also known asMYLK2 is anenzyme which in humans is encoded by theMYLK2gene.[5]

Function

[edit]

This gene encodes amyosin light chain kinase, acalcium /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 undermyosin light chain kinase. This binding to skMLCK increases the affinity of Ca2+ and ultimately leads to a sustained muscle action.[7]

Clinical significance

[edit]

Mutations in theMYLK2 gene have been linked to midventricularhypertrophic cardiomyopathy.[5]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000101306Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000027470Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^abDavis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND (November 2001)."The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation".Cell.107 (5):631–41.doi:10.1016/S0092-8674(01)00586-4.PMID 11733062.S2CID 778253.
  6. ^"Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle".
  7. ^Stull JT, Kamm KE, Vandenboom R (February 2011)."Myosin light chain kinase and the role of myosin light chain phosphorylation in skeletal muscle".Arch Biochem Biophys.510 (2):120–8.doi:10.1016/j.abb.2011.01.017.PMC 3101293.PMID 21284933.

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


Non-specific serine/threonine protein kinases (EC 2.7.11.1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4)
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)
Myosin-heavy-chain kinase (EC 2.7.11.7)
Fas-activated serine/threonine kinase (EC 2.7.11.8)
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)
  • -
IκB kinase (EC 2.7.11.10)
cAMP-dependent protein kinase (EC 2.7.11.11)
cGMP-dependent protein kinase (EC 2.7.11.12)
Protein kinase C (EC 2.7.11.13)
Rhodopsin kinase (EC 2.7.11.14)
Beta adrenergic receptor kinase (EC 2.7.11.15)
G-protein coupled receptor kinases (EC 2.7.11.16)
Ca2+/calmodulin-dependent (EC 2.7.11.17)
Myosin light-chain kinase (EC 2.7.11.18)
Phosphorylase kinase (EC 2.7.11.19)
Elongation factor 2 kinase (EC 2.7.11.20)
Polo kinase (EC 2.7.11.21)
Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)
Polo kinase (EC 2.7.11.21)
Cyclin-dependent kinase (EC 2.7.11.22)
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)
Mitogen-activated protein kinase (EC 2.7.11.24)
MAP3K (EC 2.7.11.25)
Tau-protein kinase (EC 2.7.11.26)
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)
  • -
Tropomyosin kinase (EC 2.7.11.28)
  • -
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)
  • -
Receptor protein serine/threonine kinase (EC 2.7.11.30)
MAP2K
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