MYL2

From Wikipedia, the free encyclopedia

Myosin, light chain 2, regulatory, cardiac, slow

Identifiers

MYL2; CMH10; DKFZp779C0562; MLC2

External IDs

OMIM: 160781 MGI: 97272 HomoloGene: 55462

Gene ontology
Molecular Function:	• motor activity • calcium ion binding • protein binding • structural constituent of muscle
Cellular Component:	• cytoskeleton • myosin complex
Biological Process:	• regulation of striated muscle contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000432 (mRNA)
NP_000423 (protein)

NM_010861 (mRNA)
NP_034991 (protein)

Location

Chr 12: 109.83 - 109.84 Mb

Chr 5: 122.36 - 122.37 Mb

Pubmed search

[1]

[2]

Myosin, light chain 2, regulatory, cardiac, slow, also known as MYL2, is a human gene.^[1]

MYL2 encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in MYL2 are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy.^[1]

[edit] References

^ ^a ^b Entrez Gene: MYL2 myosin, light chain 2, regulatory, cardiac, slow.

[edit] Further reading

Macera MJ, Szabo P, Wadgaonkar R, et al. (1992). "Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3.". Genomics 13 (3): 829–31. PMID 1386340.
Dalla Libera L, Hoffmann E, Floroff M, Jackowski G (1989). "Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2.". Nucleic Acids Res. 17 (6): 2360. PMID 2704627.
Kovalyov LI, Shishkin SS, Efimochkin AS, et al. (1996). "The major protein expression profile and two-dimensional protein database of human heart.". Electrophoresis 16 (7): 1160–9. PMID 7498159.
Wadgaonkar R, Shafiq S, Rajmanickam C, Siddiqui MA (1994). "Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain.". Cell. Mol. Biol. Res. 39 (1): 13–26. PMID 8287067.
Poetter K, Jiang H, Hassanzadeh S, et al. (1996). "Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.". Nat. Genet. 13 (1): 63–9. doi:10.1038/ng0596-63. PMID 8673105.
Flavigny J, Richard P, Isnard R, et al. (1998). "Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.". J. Mol. Med. 76 (3-4): 208–14. PMID 9535554.
Chew TL, Masaracchia RA, Goeckeler ZM, Wysolmerski RB (1999). "Phosphorylation of non-muscle myosin II regulatory light chain by p21-activated kinase (gamma-PAK).". J. Muscle Res. Cell. Motil. 19 (8): 839–54. PMID 10047984.
Szczesna D, Ghosh D, Li Q, et al. (2001). "Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.". J. Biol. Chem. 276 (10): 7086–92. doi:10.1074/jbc.M009823200. PMID 11102452.
Tan I, Ng CH, Lim L, Leung T (2001). "Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton.". J. Biol. Chem. 276 (24): 21209–16. doi:10.1074/jbc.M102615200. PMID 11399775.
Andersen PS, Havndrup O, Bundgaard H, et al. (2002). "Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.". J. Med. Genet. 38 (12): E43. PMID 11748309.
Wentz-Hunter K, Ueda J, Yue BY (2002). "Protein interactions with myocilin.". Invest. Ophthalmol. Vis. Sci. 43 (1): 176–82. PMID 11773029.
Gerashchenko BI, Ueda K, Hino M, Hosoya H (2002). "Phosphorylation at threonine-18 in addition to phosphorylation at serine-19 on myosin-II regulatory light chain is a mitosis-specific event.". Cytometry 47 (3): 150–7. PMID 11891719.
Ueda K, Murata-Hori M, Tatsuka M, Hosoya H (2002). "Rho-kinase contributes to diphosphorylation of myosin II regulatory light chain in nonmuscle cells.". Oncogene 21 (38): 5852–60. doi:10.1038/sj.onc.1205747. PMID 12185584.
Kabaeva ZT, Perrot A, Wolter B, et al. (2003). "Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.". Eur. J. Hum. Genet. 10 (11): 741–8. doi:10.1038/sj.ejhg.5200872. PMID 12404107.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Richard P, Charron P, Carrier L, et al. (2003). "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.". Circulation 107 (17): 2227–32. doi:10.1161/01.CIR.0000066323.15244.54. PMID 12707239.
Mörner S, Richard P, Kazzam E, et al. (2004). "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.". J. Mol. Cell. Cardiol. 35 (7): 841–9. PMID 12818575.
Sachdev S, Raychowdhury MK, Sarkar S (2004). "Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships.". DNA Seq. 14 (5): 339–50. PMID 14756420.
Gerhard DS, Wagner L, Feingold EA, et al. (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. PMID 15489334.
Witt SH, Granzier H, Witt CC, Labeit S (2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.". J. Mol. Biol. 350 (4): 713–22. doi:10.1016/j.jmb.2005.05.021. PMID 15967462.