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Protein

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Gene

MYL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi37 – 4812Add
BLAST

GO - Molecular functioni

  1. actin monomer binding Source: BHF-UCL
  2. calcium ion binding Source: MGI
  3. myosin heavy chain binding Source: BHF-UCL
  4. structural constituent of muscle Source: BHF-UCL

GO - Biological processi

  1. cardiac muscle contraction Source: Ensembl
  2. cardiac myofibril assembly Source: BHF-UCL
  3. heart contraction Source: BHF-UCL
  4. muscle cell fate specification Source: Ensembl
  5. muscle fiber development Source: Ensembl
  6. muscle filament sliding Source: Reactome
  7. negative regulation of cell growth Source: BHF-UCL
  8. post-embryonic development Source: Ensembl
  9. regulation of striated muscle contraction Source: ProtInc
  10. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Short name:
MLC-2
Short name:
MLC-2v
Gene namesi
Name:MYL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7583. MYL2.

Subcellular locationi

  1. CytoplasmmyofibrilsarcomereA band By similarity

GO - Cellular componenti

  1. A band Source: UniProtKB-SubCell
  2. cytoskeleton Source: BHF-UCL
  3. cytosol Source: Reactome
  4. myofibril Source: BHF-UCL
  5. myosin complex Source: BHF-UCL
  6. sarcomere Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 10 (CMH10)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

See also OMIM:608758
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131A → T in CMH10; with mid-left ventricular chamber thickening. 1 Publication
Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
VAR_004601
Natural varianti18 – 181F → L in CMH10. 1 Publication
Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
VAR_004602
Natural varianti22 – 221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. 2 Publications
VAR_004603
Natural varianti58 – 581R → Q in CMH10. 3 Publications
Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
VAR_004604
Natural varianti95 – 951P → A in CMH10; with mid-left ventricular chamber thickening. 1 Publication
VAR_004605
Natural varianti166 – 1661D → V in CMH10. 1 Publication
VAR_019844

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi608758. phenotype.
Orphaneti2020. Congenital fiber-type disproportion myopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31380.

Polymorphism and mutation databases

BioMutaiMYL2.
DMDMi6166556.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 166165Myosin regulatory light chain 2, ventricular/cardiac muscle isoformPRO_0000198727Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N,N,N-trimethylalanineBy similarity

Post-translational modificationi

N-terminus is methylated by METTL11A/NTM1.By similarity
Phosphorylated by MYLK3.By similarity

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiP10916.
PRIDEiP10916.

2D gel databases

UCD-2DPAGEP10916.

PTM databases

PhosphoSiteiP10916.

Expressioni

Gene expression databases

BgeeiP10916.
CleanExiHS_MYL2.
ExpressionAtlasiP10916. baseline and differential.
GenevestigatoriP10916.

Organism-specific databases

HPAiHPA019763.
HPA039262.

Interactioni

Subunit structurei

Myosin is a hexamer of 2 heavy chains and 4 light chains. Interacts with MYOC.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
USP6P35125-35EBI-725770,EBI-954590

Protein-protein interaction databases

BioGridi110717. 5 interactions.
IntActiP10916. 4 interactions.
MINTiMINT-1430124.
STRINGi9606.ENSP00000228841.

Structurei

3D structure databases

ProteinModelPortaliP10916.
SMRiP10916. Positions 16-165.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 5936EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini94 – 12936EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini130 – 16536EF-hand 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5126.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiP10916.
KOiK10351.
OMAiTQMLTTQ.
OrthoDBiEOG7992RX.
PhylomeDBiP10916.
TreeFamiTF314218.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF00036. EF-hand_1. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P10916-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPKKAKKRA GGANSNVFSM FEQTQIQEFK EAFTIMDQNR DGFIDKNDLR
60 70 80 90 100
DTFAALGRVN VKNEEIDEMI KEAPGPINFT VFLTMFGEKL KGADPEETIL
110 120 130 140 150
NAFKVFDPEG KGVLKADYVR EMLTTQAERF SKEEVDQMFA AFPPDVTGNL
160
DYKNLVHIIT HGEEKD
Length:166
Mass (Da):18,789
Last modified:January 23, 2007 - v3
Checksum:iEA0BEF886AA3FAF5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131A → T in CMH10; with mid-left ventricular chamber thickening. 1 Publication
Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
VAR_004601
Natural varianti18 – 181F → L in CMH10. 1 Publication
Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
VAR_004602
Natural varianti22 – 221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. 2 Publications
VAR_004603
Natural varianti57 – 571G → R.
Corresponds to variant rs2428140 [ dbSNP | Ensembl ].
VAR_029449
Natural varianti58 – 581R → Q in CMH10. 3 Publications
Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
VAR_004604
Natural varianti95 – 951P → A in CMH10; with mid-left ventricular chamber thickening. 1 Publication
VAR_004605
Natural varianti166 – 1661D → V in CMH10. 1 Publication
VAR_019844

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14332 mRNA. Translation: CAA32510.1.
M22815 mRNA. Translation: AAA91832.1.
AF020768 mRNA. Translation: AAB91993.1.
S69022 mRNA. Translation: AAB29658.2.
BC015821 mRNA. Translation: AAH15821.1.
BC031006 mRNA. Translation: AAH31006.1.
BC031008 mRNA. Translation: AAH31008.1.
CCDSiCCDS31901.1.
RefSeqiNP_000423.2. NM_000432.3.
UniGeneiHs.75535.

Genome annotation databases

EnsembliENST00000228841; ENSP00000228841; ENSG00000111245.
GeneIDi4633.
KEGGihsa:4633.
UCSCiuc001trx.4. human.

Polymorphism and mutation databases

BioMutaiMYL2.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14332 mRNA. Translation: CAA32510.1.
M22815 mRNA. Translation: AAA91832.1.
AF020768 mRNA. Translation: AAB91993.1.
S69022 mRNA. Translation: AAB29658.2.
BC015821 mRNA. Translation: AAH15821.1.
BC031006 mRNA. Translation: AAH31006.1.
BC031008 mRNA. Translation: AAH31008.1.
CCDSiCCDS31901.1.
RefSeqiNP_000423.2. NM_000432.3.
UniGeneiHs.75535.

3D structure databases

ProteinModelPortaliP10916.
SMRiP10916. Positions 16-165.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110717. 5 interactions.
IntActiP10916. 4 interactions.
MINTiMINT-1430124.
STRINGi9606.ENSP00000228841.

PTM databases

PhosphoSiteiP10916.

Polymorphism and mutation databases

BioMutaiMYL2.
DMDMi6166556.

2D gel databases

UCD-2DPAGEP10916.

Proteomic databases

PaxDbiP10916.
PRIDEiP10916.

Protocols and materials databases

DNASUi4633.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000228841; ENSP00000228841; ENSG00000111245.
GeneIDi4633.
KEGGihsa:4633.
UCSCiuc001trx.4. human.

Organism-specific databases

CTDi4633.
GeneCardsiGC12M111348.
GeneReviewsiMYL2.
HGNCiHGNC:7583. MYL2.
HPAiHPA019763.
HPA039262.
MIMi160781. gene.
608758. phenotype.
neXtProtiNX_P10916.
Orphaneti2020. Congenital fiber-type disproportion myopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5126.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiP10916.
KOiK10351.
OMAiTQMLTTQ.
OrthoDBiEOG7992RX.
PhylomeDBiP10916.
TreeFamiTF314218.

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSiMYL2. human.
GeneWikiiMYL2.
GenomeRNAii4633.
NextBioi17836.
PROiP10916.
SOURCEiSearch...

Gene expression databases

BgeeiP10916.
CleanExiHS_MYL2.
ExpressionAtlasiP10916. baseline and differential.
GenevestigatoriP10916.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF00036. EF-hand_1. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2."
    Libera L.D., Hoffmann E., Floroff M., Jackowski G.
    Nucleic Acids Res. 17:2360-2360(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  2. Wu Q.L.
    Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Muscle.
  3. Margossian S.S., Umeda P.K., Sciaky D., Anderson P.A.W.
    Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain."
    Wadgaonkar R., Shafiq S., Rajmanickam C., Siddiqui M.A.
    Cell. Mol. Biol. Res. 39:13-26(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Prostate and Skeletal muscle.
  6. "The major protein expression profile and two-dimensional protein database of human heart."
    Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., Ershova E.S., Egorov T.A., Musalyamov A.K.
    Electrophoresis 16:1160-1169(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 138-144.
    Tissue: Heart.
  7. "Protein interactions with myocilin."
    Wentz-Hunter K., Ueda J., Yue B.Y.
    Invest. Ophthalmol. Vis. Sci. 43:176-182(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MYOC.
  8. "Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle."
    Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D.
    Nat. Genet. 13:63-69(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH10 THR-13; LYS-22 AND ALA-95.
  9. "Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy."
    Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., Forissier J.F., Desnos M., Dubourg O., Komajda M., Schwartz K., Hainque B.
    J. Mol. Med. 76:208-214(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH10 LEU-18 AND GLN-58.
  10. "Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy."
    Kabaeva Z.T., Perrot A., Wolter B., Dietz R., Cardim N., Correia J.M., Schulte H.D., Aldashev A.A., Mirrakhimov M.M., Osterziel K.J.
    Eur. J. Hum. Genet. 10:741-748(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH10 LYS-22 AND GLN-58.
  11. "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
    Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
    Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH10 VAL-166.
  12. "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
    Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
    J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH10 GLN-58.

Entry informationi

Entry nameiMLRV_HUMAN
AccessioniPrimary (citable) accession number: P10916
Secondary accession number(s): Q16123
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: April 29, 2015
This is version 158 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

This chain binds calcium.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.