ID MLRV_HUMAN STANDARD; PRT; 165 AA. AC P10916; Q16123; DT 01-JUL-1989 (Rel. 11, Created) DT 15-JUL-1999 (Rel. 38, Last sequence update) DT 05-JUL-2004 (Rel. 44, Last annotation update) DE Myosin regulatory light chain 2, ventricular/cardiac muscle isoform DE (MLC-2) (MLC-2v). GN Name=MYL2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RC TISSUE=Heart; RX MEDLINE=89202052; PubMed=2704627; RA Libera L.D., Hoffmann E., Floroff M., Jackowski G.; RT "Isolation and nucleotide sequence of the cDNA encoding human RT ventricular myosin light chain 2."; RL Nucleic Acids Res. 17:2360-2361(1989). RN [2] RP SEQUENCE FROM N.A. RC TISSUE=Muscle; RA Wu Q.L.; RL Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases. RN [3] RP SEQUENCE FROM N.A. RA Margossian S.S., Umeda P.K., Sciaky D., Anderson P.A.W.; RL Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases. RN [4] RP SEQUENCE FROM N.A. RX MEDLINE=94115365; PubMed=8287067; RA Wadgaonkar R., Shafiq S., Rajmanickam C., Siddiqui M.A.; RT "Interaction of a conserved peptide domain in recombinant human RT ventricular myosin light chain-2 with myosin heavy chain."; RL Cell. Mol. Biol. Res. 39:13-26(1993). RN [5] RP SEQUENCE FROM N.A. RC TISSUE=Prostate, and Skeletal muscle; RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). RN [6] RP SEQUENCE OF 137-143. RC TISSUE=Heart; RX MEDLINE=96007936; PubMed=7498159; RA Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., RA Ershova E.S., Egorov T.A., Musalyamov A.K.; RT "The major protein expression profile and two-dimensional protein RT database of human heart."; RL Electrophoresis 16:1160-1169(1995). RN [7] RP VARIANTS MVC THR-12; LYS-21 AND ALA-94. RX MEDLINE=96241574; PubMed=8673105; RA Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., RA Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D.; RT "Mutations in either the essential or regulatory light chains of RT myosin are associated with a rare myopathy in human heart and skeletal RT muscle."; RL Nat. Genet. 13:63-69(1996). RN [8] RP VARIANTS FHC LEU-17 AND GLN-57. RX MEDLINE=98195232; PubMed=9535554; RA Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., RA Forissier J.F., Desnos M., Dubourg O., Komajda M., Schwartz K., RA Hainque B.; RT "Identification of two novel mutations in the ventricular regulatory RT myosin light chain gene (MYL2) associated with familial and classical RT forms of hypertrophic cardiomyopathy."; RL J. Mol. Med. 76:208-214(1998). CC -!- SUBUNIT: Myosin is an hexamer of 2 heavy chains and 4 light CC chains. CC -!- DISEASE: Defects in MYL2 are a cause of hypertrophic CC cardiomyopathy, mid-left ventricular chamber type (MVC) CC [MIM:160781]. MVC is a very rare phenotype, even among CC hypertrophic cardiomyopathy population. Defects in MYL2 are one of CC the causes of familial hypertrophic cardiomyopathy (FHC). CC Hypertrophic cardiomyopathies are marked by ventricular CC hypertrophy, particularly of the left ventricul and often CC involving the interventrivular septum with diastolic dysfunction CC and manifest as impaired ventricular filling. CC -!- MISCELLANEOUS: This chain binds calcium. CC -!- SIMILARITY: Contains 1 EF-hand calcium-binding domain. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; X14332; CAA32510.1; -. DR EMBL; M22815; AAA91832.1; -. DR EMBL; AF020768; AAB91993.1; -. DR EMBL; S69022; AAB29658.2; -. DR EMBL; BC015821; AAH15821.1; -. DR EMBL; BC031006; AAH31006.1; -. DR EMBL; BC031008; AAH31008.1; -. DR HSSP; P13543; 1B7T. DR HSC-2DPAGE; P10916; HUMAN. DR Genew; HGNC:7583; MYL2. DR MIM; 160781; -. DR GO; GO:0005856; C:cytoskeleton; TAS. DR GO; GO:0008307; F:structural constituent of muscle; TAS. DR GO; GO:0006942; P:regulation of striated muscle contraction; TAS. DR InterPro; IPR002048; EF-hand. DR InterPro; IPR010983; EF_Hand_like. DR Pfam; PF00036; efhand; 3. DR ProDom; PD000012; EF-hand; 2. DR PROSITE; PS00018; EF_HAND; 1. KW Myosin; Calcium-binding; Muscle protein; Multigene family; KW Disease mutation; Cardiomyopathy; Direct protein sequencing. FT INIT_MET 0 0 FT CA_BIND 36 47 EF-hand (Potential). FT VARIANT 12 12 A -> T (in MVC). FT /FTId=VAR_004601. FT VARIANT 17 17 F -> L (in FHC). FT /FTId=VAR_004602. FT VARIANT 21 21 E -> K (in MVC). FT /FTId=VAR_004603. FT VARIANT 57 57 R -> Q (in FHC). FT /FTId=VAR_004604. FT VARIANT 94 94 P -> A (in MVC). FT /FTId=VAR_004605. SQ SEQUENCE 165 AA; 18658 MW; 5E0746D2A5A505A0 CRC64; APKKAKKRAG GANSNVFSMF EQTQIQEFKE AFTIMDQNRD GFIDKNDLRD TFAALGRVNV KNEEIDEMIK EAPGPINFTV FLTMFGEKLK GADPEETILN AFKVFDPEGK GVLKADYVRE MLTTQAERFS KEEVDQMFAA FPPDVTGNLD YKNLVHIITH GEEKD //