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Identification
HMDB Protein ID HMDBP07800
Secondary Accession Numbers
  • 13509
Name Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Synonyms
  1. MLC-2
  2. MLC-2v
Gene Name MYL2
Protein Type Unknown
Biological Properties
General Function Involved in calcium ion binding
Specific Function Not Available
Pathways Not Available
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
calcium ion binding
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 12q24.11
SNPs MYL2
Gene Sequence
>501 bp
ATGGCACCTAAGAAAGCAAAGAAGAGGGCCGGGGGCGCCAACTCCAACGTGTTCTCCATG
TTCGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATCATGGACCAGAACAGG
GATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTGCCCTTGGGCGAGTGAAC
GTGAAAAATGAAGAAATTGATGAAATGATCAAGGAGGCTCCGGGTCCAATTAACTTTACT
GTGTTCCTCACAATGTTTGGGGAGAAACTTAAGGGAGCGGACCCTGAGGAAACCATTCTC
AACGCATTCAAAGTGTTTGACCCTGAAGGCAAAGGGGTGCTGAAGGCTGATTACGTTCGG
GAAATGCTGACCACGCAGGCGGAGAGGTTTTCCAAGGAGGAGGTTGACCAGATGTTCGCC
GCCTTCCCCCCTGACGTGACTGGCAACTTGGACTACAAGAACCTGGTGCACATCATCACC
CACGGAGAAGAGAAGGACTAG
Protein Properties
Number of Residues 166
Molecular Weight 18789.2
Theoretical pI 4.63
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVN
VKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVR
EMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD
GenBank ID Protein 2460247
UniProtKB/Swiss-Prot ID P10916
UniProtKB/Swiss-Prot Entry Name MLRV_HUMAN
PDB IDs Not Available
GenBank Gene ID AF020768
GeneCard ID MYL2
GenAtlas ID MYL2
HGNC ID HGNC:7583
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Kovalyov LI, Shishkin SS, Efimochkin AS, Kovalyova MA, Ershova ES, Egorov TA, Musalyamov AK: The major protein expression profile and two-dimensional protein database of human heart. Electrophoresis. 1995 Jul;16(7):1160-9. [PubMed:7498159 ]
  3. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. [PubMed:12707239 ]
  4. Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A: Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol. 2003 Jul;35(7):841-9. [PubMed:12818575 ]
  5. Dalla Libera L, Hoffmann E, Floroff M, Jackowski G: Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2. Nucleic Acids Res. 1989 Mar 25;17(6):2360. [PubMed:2704627 ]
  6. Wadgaonkar R, Shafiq S, Rajmanickam C, Siddiqui MA: Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain. Cell Mol Biol Res. 1993;39(1):13-26. [PubMed:8287067 ]
  7. Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND: 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. 1996 May;13(1):63-9. [PubMed:8673105 ]
  8. Flavigny J, Richard P, Isnard R, Carrier L, Charron P, Bonne G, Forissier JF, Desnos M, Dubourg O, Komajda M, Schwartz K, Hainque B: 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 (Berl). 1998 Mar;76(3-4):208-14. [PubMed:9535554 ]
  9. Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, Schulte HD, Aldashev AA, Mirrakhimov MM, Osterziel KJ: Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. Eur J Hum Genet. 2002 Nov;10(11):741-8. [PubMed:12404107 ]