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 16-MAY-2012, entry version 130. DE RecName: Full=Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; DE Short=MLC-2; DE Short=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; DOI=10.1002/elps.11501601192; 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 CMH10 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=5; IntAct=EBI-725770, EBI-954590; CC -!- PTM: N-terminus is methylated by METTL11A/NTM1 (By similarity). CC -!- DISEASE: Defects in MYL2 are the cause of familial hypertrophic CC cardiomyopathy type 10 (CMH10) [MIM:608758]. Familial hypertrophic CC cardiomyopathy is a hereditary heart disorder characterized by CC ventricular hypertrophy, which is usually asymmetric and often CC involves the interventricular septum. The symptoms include CC dyspnea, syncope, collapse, palpitations, and chest pain. They can CC be readily provoked by exercise. The disorder has inter- and CC intrafamilial variability ranging from benign to malignant forms CC with high risk of cardiac failure and sudden cardiac death. CC -!- MISCELLANEOUS: This chain binds calcium. CC -!- SIMILARITY: Contains 3 EF-hand domains. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/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 IPI; IPI00216798; -. DR RefSeq; NP_000423.2; NM_000432.3. DR UniGene; Hs.75535; -. DR ProteinModelPortal; P10916; -. DR SMR; P10916; 16-165. DR IntAct; P10916; 4. DR MINT; MINT-1430124; -. DR STRING; P10916; -. DR PhosphoSite; P10916; -. DR DMDM; 6166556; -. DR UCD-2DPAGE; P10916; -. DR PRIDE; P10916; -. DR DNASU; 4633; -. DR Ensembl; ENST00000228841; ENSP00000228841; ENSG00000111245. DR GeneID; 4633; -. DR KEGG; hsa:4633; -. DR UCSC; uc001trx.4; human. DR CTD; 4633; -. DR GeneCards; GC12M111348; -. DR H-InvDB; HIX0010996; -. DR HGNC; HGNC:7583; MYL2. DR HPA; HPA019763; -. DR MIM; 160781; gene. DR MIM; 608758; phenotype. DR neXtProt; NX_P10916; -. DR Orphanet; 155; Familial isolated hypertrophic cardiomyopathy. DR Orphanet; 217632; Restrictive cardiomyopathy. DR PharmGKB; PA31380; -. DR eggNOG; COG5126; -. DR HOGENOM; HOG000233018; -. DR HOVERGEN; HBG012180; -. DR InParanoid; P10916; -. DR KO; K10351; -. DR OMA; EIDQMFA; -. DR OrthoDB; EOG4JT06P; -. DR PhylomeDB; P10916; -. DR Reactome; REACT_17044; Muscle contraction. DR NextBio; 17836; -. DR ArrayExpress; P10916; -. DR Bgee; P10916; -. DR CleanEx; HS_MYL2; -. DR Genevestigator; P10916; -. DR GermOnline; ENSG00000111245; Homo sapiens. DR GO; GO:0005829; C:cytosol; TAS:Reactome. DR GO; GO:0016459; C:myosin complex; TAS:BHF-UCL. DR GO; GO:0030017; C:sarcomere; TAS:BHF-UCL. DR GO; GO:0003785; F:actin monomer binding; IDA:BHF-UCL. DR GO; GO:0005509; F:calcium ion binding; IDA:MGI. DR GO; GO:0032036; F:myosin heavy chain binding; NAS:BHF-UCL. DR GO; GO:0008307; F:structural constituent of muscle; NAS:BHF-UCL. DR GO; GO:0055003; P:cardiac myofibril assembly; ISS:BHF-UCL. DR GO; GO:0060047; P:heart contraction; ISS:BHF-UCL. DR GO; GO:0030049; P:muscle filament sliding; TAS:Reactome. DR GO; GO:0030308; P:negative regulation of cell growth; IMP:BHF-UCL. DR GO; GO:0006942; P:regulation of striated muscle contraction; TAS:ProtInc. DR GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IMP:BHF-UCL. DR Gene3D; G3DSA:1.10.238.10; EF-Hand_type; 2. DR InterPro; IPR018248; EF-hand. DR InterPro; IPR011992; EF-hand-like_dom. DR InterPro; IPR018247; EF_Hand_1_Ca_BS. DR InterPro; IPR018249; EF_HAND_2. DR InterPro; IPR002048; EF_hand_Ca-bd. DR Pfam; PF00036; efhand; 1. 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; Complete proteome; Direct protein sequencing; KW Disease mutation; Methylation; Motor protein; Muscle protein; Myosin; KW Polymorphism; Reference proteome; 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 CMH10; with mid-left FT ventricular chamber thickening). FT /FTId=VAR_004601. FT VARIANT 18 18 F -> L (in CMH10; dbSNP:rs28932774). FT /FTId=VAR_004602. FT VARIANT 22 22 E -> K (in CMH10; some patients present FT with mid-left ventricular chamber FT thickening). 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; dbSNP:rs28933099). FT /FTId=VAR_004604. FT VARIANT 95 95 P -> A (in CMH10; with mid-left FT ventricular chamber thickening). 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 //