ID MLRV_HUMAN Reviewed; 166 AA. AC P10916; Q16123; DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 3. DT 05-FEB-2008, entry version 88. 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; DOI=10.1093/nar/17.6.2360; 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 PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP PROTEIN SEQUENCE OF 138-144. 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-13; LYS-22 AND ALA-95. RX MEDLINE=96241574; PubMed=8673105; DOI=10.1038/ng0596-63; 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-18 AND GLN-58. 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-22 AND GLN-58. 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-166. 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). RN [12] RP VARIANT CMH10 GLN-58. RX PubMed=12818575; DOI=10.1016/S0022-2828(03)00146-9; RA Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., RA Schwartz K., Waldenstroem A.; RT "Identification of the genotypes causing hypertrophic cardiomyopathy RT in northern Sweden."; RL J. Mol. Cell. Cardiol. 35:841-849(2003). CC -!- SUBUNIT: Myosin is an hexamer of 2 heavy chains and 4 light CC chains. CC -!- INTERACTION: CC P35125-3:USP6; NbExp=2; IntAct=EBI-725770, EBI-954590; CC -!- DISEASE: Defects in MYL2 are the cause of familial hypertrophic CC cardiomyopathy type 10 (CMH10) [MIM:608758]; also designated FHC CC or HCM. Familial hypertrophic cardiomyopathy [MIM:192600] is a CC heart disorder characterized by ventricular hypertrophy, which is CC usually asymmetric and often involves the interventricular septum. CC The prevalence of the disease in the general population is 0.2%. CC FHC is clinically heterogeneous, with inter- and intrafamilial CC variations ranging from benign to malignant 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 -!- WEB RESOURCE: Name=Familial hypertrophic cardiomyopathy mutation CC database; CC URL="http://www.angis.org.au/Databases/Heart/heartbreak.html"; CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.genetests.org/query?gene=MYL2"; 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 RefSeq; NP_000423.2; -. DR UniGene; Hs.75535; -. DR HSSP; P13543; 1B7T. DR IntAct; P10916; -. DR HSC-2DPAGE; P10916; -. DR Ensembl; ENSG00000111245; Homo sapiens. DR GeneID; 4633; -. DR KEGG; hsa:4633; -. DR HGNC; HGNC:7583; MYL2. DR MIM; 160781; gene. DR MIM; 192600; phenotype. DR MIM; 608758; phenotype. DR Orphanet; 155; Cardiomyopathy, hypertrophic, primary or idiopathic. DR PharmGKB; PA31380; -. DR ArrayExpress; P10916; -. DR CleanEx; HS_MYL2; -. DR GermOnline; ENSG00000111245; Homo sapiens. DR GO; GO:0005856; C:cytoskeleton; TAS:ProtInc. DR GO; GO:0005509; F:calcium ion binding; IDA:MGI. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR GO; GO:0008307; F:structural constituent of muscle; TAS:ProtInc. DR GO; GO:0006942; P:regulation of striated muscle contraction; TAS:ProtInc. DR InterPro; IPR011992; EF-Hand_type. DR InterPro; IPR002048; EF_hand_Ca_bd. DR Gene3D; G3DSA:1.10.238.10; EF-Hand_type; 1. DR Pfam; PF00036; efhand; 2. DR ProDom; PD000012; EF-hand; 2. DR SMART; SM00054; EFh; 3. DR PROSITE; PS00018; EF_HAND_1; 1. DR PROSITE; PS50222; EF_HAND_2; 3. PE 1: Evidence at protein level; KW Calcium; Cardiomyopathy; Direct protein sequencing; Disease mutation; KW Methylation; Motor protein; Muscle protein; Myosin; Polymorphism; KW Repeat. FT INIT_MET 1 1 Removed (By similarity). FT CHAIN 2 166 Myosin regulatory light chain 2, FT ventricular/cardiac muscle isoform. FT /FTId=PRO_0000198727. FT DOMAIN 24 59 EF-hand 1. FT DOMAIN 94 129 EF-hand 2. FT DOMAIN 130 165 EF-hand 3. FT CA_BIND 37 48 FT MOD_RES 2 2 N,N,N-trimethylalanine (By similarity). FT VARIANT 13 13 A -> T (in MVC2). FT /FTId=VAR_004601. FT VARIANT 18 18 F -> L (in CMH10). FT /FTId=VAR_004602. FT VARIANT 22 22 E -> K (in CMH10 and MVC2). FT /FTId=VAR_004603. FT VARIANT 57 57 G -> R (in dbSNP:rs2428140). FT /FTId=VAR_029449. FT VARIANT 58 58 R -> Q (in CMH10). FT /FTId=VAR_004604. FT VARIANT 95 95 P -> A (in MVC2). FT /FTId=VAR_004605. FT VARIANT 166 166 D -> V (in CMH10). FT /FTId=VAR_019844. SQ SEQUENCE 166 AA; 18789 MW; EA0BEF886AA3FAF5 CRC64; MAPKKAKKRA GGANSNVFSM FEQTQIQEFK EAFTIMDQNR DGFIDKNDLR DTFAALGRVN VKNEEIDEMI KEAPGPINFT VFLTMFGEKL KGADPEETIL NAFKVFDPEG KGVLKADYVR EMLTTQAERF SKEEVDQMFA AFPPDVTGNL DYKNLVHIIT HGEEKD //