ID MLRV_HUMAN STANDARD; PRT; 165 AA. AC P10916; Q16123; DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot. DT 15-JUL-1999, sequence version 2. DT 18-APR-2006, entry version 65. 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; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. 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. 17:2360-2360(1989). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Muscle; RA Wu Q.L.; RL Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. 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 NUCLEOTIDE SEQUENCE [MRNA]. 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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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 PROTEIN 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 MVC2 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 CMH10 LEU-17 AND GLN-57. RX MEDLINE=98195232; PubMed=9535554; DOI=10.1007/s001090050210; 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). RN [9] RP VARIANTS CMH10 LYS-21 AND GLN-57. RX MEDLINE=22291626; PubMed=12404107; DOI=10.1038/sj.ejhg.5200872; RA Kabaeva Z.T., Perrot A., Wolter B., Dietz R., Cardim N., Correia J.M., RA Schulte H.D., Aldashev A.A., Mirrakhimov M.M., Osterziel K.J.; RT "Systematic analysis of the regulatory and essential myosin light RT chain genes: genetic variants and mutations in hypertrophic RT cardiomyopathy."; RL Eur. J. Hum. Genet. 10:741-748(2002). RN [10] RP VARIANT CMH10 VAL-165. RX MEDLINE=22617817; PubMed=12707239; RX DOI=10.1161/01.CIR.0000066323.15244.54; RA Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., RA Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., RA Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., RA Komajda M.; RT "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum RT of mutations, and implications for a molecular diagnosis strategy."; RL Circulation 107:2227-2232(2003). RN [11] RP ERRATUM. RA Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., RA Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., RA Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., RA Komajda M.; RL Circulation 109:3258-3258(2004). CC -!- SUBUNIT: Myosin is an hexamer of 2 heavy chains and 4 light CC chains. CC -!- DISEASE: Defects in MYL2 are the cause of familial hypertrophic CC cardiomyopathy 10 (CMH10) [MIM:608758, 192600]; also designated CC FHC or HCM. Hypertrophic cardiomyopathy is a heart disorder CC characterized by ventricular hypertrophy, which is usually CC asymmetric and often involves the interventricular septum. The CC prevalence of the disease in the general population is 0.2%. FHC CC is clinically heterogeneous, with inter- and intrafamilial CC variations ranging from benign to maligmant forms with high risk CC of cardiac failure and sudden cardiac death. CC -!- DISEASE: Defects in MYL2 are the cause of hypertrophic CC cardiomyopathy with mid-left ventricular chamber type 2 (MVC2) CC [MIM:608758]. MVC2 is a very rare variant of familial hypertrophic CC cardiomyopathy, characterized by mid-left ventricular chamber CC thickening. CC -!- MISCELLANEOUS: This chain binds calcium. CC -!- SIMILARITY: Contains 3 EF-hand domains. CC -!- DATABASE: NAME=Familial hypertrophic cardiomyopathy mutation CC database; CC WWW="http://www.angis.org.au/Databases/Heart/heartbreak.html". 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; -; mRNA. DR EMBL; M22815; AAA91832.1; -; mRNA. DR EMBL; AF020768; AAB91993.1; -; mRNA. DR EMBL; S69022; AAB29658.2; -; mRNA. DR EMBL; BC015821; AAH15821.1; -; mRNA. DR EMBL; BC031006; AAH31006.1; -; mRNA. DR EMBL; BC031008; AAH31008.1; -; mRNA. DR UniGene; Hs.75535; -. DR HSSP; P13543; 1B7T. DR HSC-2DPAGE; P10916; HUMAN. DR Ensembl; ENSG00000111245; Homo sapiens. DR H-InvDB; HIX0010996; -. DR HGNC; HGNC:7583; MYL2. DR MIM; 160781; gene. DR MIM; 192600; phenotype. DR MIM; 608758; phenotype. DR GO; GO:0005856; C:cytoskeleton; TAS. DR GO; GO:0005515; F:protein binding; IPI. DR GO; GO:0008307; F:structural constituent of muscle; TAS. DR GO; GO:0006942; P:regulation of striated muscle contraction; TAS. DR InterPro; IPR011992; EF-Hand_type. DR InterPro; IPR002048; EF_hand_Ca_bd. DR Pfam; PF00036; efhand; 2. DR ProDom; PD000012; EF-hand; 2. DR SMART; SM00054; EFh; 1. DR PROSITE; PS00018; EF_HAND_1; 1. DR PROSITE; PS50222; EF_HAND_2; 3. KW Calcium; Cardiomyopathy; Direct protein sequencing; Disease mutation; KW Motor protein; Muscle protein; Myosin; Repeat. FT INIT_MET 0 0 FT CHAIN 1 165 Myosin regulatory light chain 2, FT ventricular/cardiac muscle isoform. FT /FTId=PRO_0000198727. FT DOMAIN 23 58 EF-hand 1. FT DOMAIN 93 128 EF-hand 2. FT DOMAIN 129 164 EF-hand 3. FT CA_BIND 36 47 FT VARIANT 12 12 A -> T (in MVC2). FT /FTId=VAR_004601. FT VARIANT 17 17 F -> L (in CMH10). FT /FTId=VAR_004602. FT VARIANT 21 21 E -> K (in CMH10 and MVC2). FT /FTId=VAR_004603. FT VARIANT 57 57 R -> Q (in CMH10). FT /FTId=VAR_004604. FT VARIANT 94 94 P -> A (in MVC2). FT /FTId=VAR_004605. FT VARIANT 165 165 D -> V (in CMH10). FT /FTId=VAR_019844. 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 //