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Protein

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Gene

MYL2

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

Functioni

Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity).By similarity

Miscellaneous

This chain binds calcium.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi37 – 48Add BLAST12

GO - Molecular functioni

  • actin monomer binding Source: BHF-UCL
  • calcium ion binding Source: MGI
  • myosin heavy chain binding Source: BHF-UCL
  • structural constituent of muscle Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionMotor protein, Muscle protein, Myosin
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP10916

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin regulatory light chain 2, ventricular/cardiac muscle isoformCurated
Short name:
MLC-2By similarity
Short name:
MLC-2v
Alternative name(s):
Cardiac myosin light chain 21 Publication
Myosin light chain 2, slow skeletal/ventricular muscle isoformBy similarity
Short name:
MLC-2s/vBy similarity
Ventricular myosin light chain 21 Publication
Gene namesi
Name:MYL2Imported
Synonyms:MLC21 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111245.14
HGNCiHGNC:7583 MYL2
MIMi160781 gene
neXtProtiNX_P10916

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 10 (CMH10)6 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00460113A → T in CMH10; with mid-left ventricular chamber thickening; decrease calcium binding affinity; large increase in its calcium binding affinity upon phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs104894363EnsemblClinVar.1
Natural variantiVAR_00460218F → L in CMH10; decrease calcium binding affinity. 2 PublicationsCorresponds to variant dbSNP:rs104894370EnsemblClinVar.1
Natural variantiVAR_00460322E → K in CMH10; some patients present with mid-left ventricular chamber thickening; significantly decrease calcium binding affinity; loss of phosphorylation. 3 PublicationsCorresponds to variant dbSNP:rs104894368EnsemblClinVar.1
Natural variantiVAR_00460458R → Q in CMH10; impairs calcium binding; bind calcium upon phosphorylation. 4 PublicationsCorresponds to variant dbSNP:rs104894369EnsemblClinVar.1
Natural variantiVAR_00460595P → A in CMH10; with mid-left ventricular chamber thickening; decrease calcium binding affinity. 2 PublicationsCorresponds to variant dbSNP:rs121913658EnsemblClinVar.1
Natural variantiVAR_019844166D → V in CMH10. 1 PublicationCorresponds to variant dbSNP:rs199474815EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi4633
GeneReviewsiMYL2
MalaCardsiMYL2
MIMi608758 phenotype
OpenTargetsiENSG00000111245
Orphaneti2020 Congenital fiber-type disproportion myopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA31380

Chemistry databases

ChEMBLiCHEMBL3831286

Polymorphism and mutation databases

BioMutaiMYL2
DMDMi6166556

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001987272 – 166Myosin regulatory light chain 2, ventricular/cardiac muscle isoformAdd BLAST165

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N,N,N-trimethylalanineBy similarity1
Modified residuei14Deamidated asparagine1 Publication1
Modified residuei15Phosphoserine; by ZIPK/DAPK32 Publications1
Modified residuei19PhosphoserineBy similarity1
Modified residuei52PhosphothreonineBy similarity1

Post-translational modificationi

N-terminus is methylated by METTL11A/NTM1.By similarity
Phosphorylated by MYLK3 and MYLK2; promotes cardiac muscle contraction and function (By similarity). Dephosphorylated by PPP1CB complexed to PPP1R12B (By similarity). The phosphorylated form in adult is expressed as gradients across the heart from endocardium (low phosphorylation) to epicardium (high phosphorylation); regulates cardiac torsion and workload distribution (By similarity).By similarity

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiP10916
PeptideAtlasiP10916
PRIDEiP10916
ProteomicsDBi52678

2D gel databases

UCD-2DPAGEiP10916

PTM databases

iPTMnetiP10916
PhosphoSitePlusiP10916

Expressioni

Gene expression databases

BgeeiENSG00000111245 Expressed in 117 organ(s), highest expression level in myocardium
CleanExiHS_MYL2
ExpressionAtlasiP10916 baseline and differential
GenevisibleiP10916 HS

Organism-specific databases

HPAiHPA019763
HPA039262

Interactioni

Subunit structurei

Myosin is a hexamer of 2 heavy chains and 4 light chains. Interacts with MYOC (PubMed:11773029).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110717, 13 interactors
IntActiP10916, 7 interactors
STRINGi9606.ENSP00000228841

Structurei

3D structure databases

ProteinModelPortaliP10916
SMRiP10916
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 59EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini94 – 129EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini130 – 165EF-hand 3PROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0031 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00760000119196
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP10916
KOiK10351
OMAiIVTHRAE
OrthoDBiEOG091G0QF6
PhylomeDBiP10916
TreeFamiTF314218

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13405 EF-hand_6, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 3 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1V8G3V1V8_HUMAN
Myosin regulatory light chain 2, ve...
MYL2 hCG_40212
152Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00460113A → T in CMH10; with mid-left ventricular chamber thickening; decrease calcium binding affinity; large increase in its calcium binding affinity upon phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs104894363EnsemblClinVar.1
Natural variantiVAR_00460218F → L in CMH10; decrease calcium binding affinity. 2 PublicationsCorresponds to variant dbSNP:rs104894370EnsemblClinVar.1
Natural variantiVAR_00460322E → K in CMH10; some patients present with mid-left ventricular chamber thickening; significantly decrease calcium binding affinity; loss of phosphorylation. 3 PublicationsCorresponds to variant dbSNP:rs104894368EnsemblClinVar.1
Natural variantiVAR_02944957G → R. Corresponds to variant dbSNP:rs2428140Ensembl.1
Natural variantiVAR_00460458R → Q in CMH10; impairs calcium binding; bind calcium upon phosphorylation. 4 PublicationsCorresponds to variant dbSNP:rs104894369EnsemblClinVar.1
Natural variantiVAR_00460595P → A in CMH10; with mid-left ventricular chamber thickening; decrease calcium binding affinity. 2 PublicationsCorresponds to variant dbSNP:rs121913658EnsemblClinVar.1
Natural variantiVAR_019844166D → V in CMH10. 1 PublicationCorresponds to variant dbSNP:rs199474815EnsemblClinVar.1

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5TBYelectron microscopy20.00E/F1-166[»]
ProteinModelPortaliP10916
SMRiP10916
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110717, 13 interactors
IntActiP10916, 7 interactors
STRINGi9606.ENSP00000228841

Chemistry databases

ChEMBLiCHEMBL3831286

PTM databases

iPTMnetiP10916
PhosphoSitePlusiP10916

Polymorphism and mutation databases

BioMutaiMYL2
DMDMi6166556

2D gel databases

UCD-2DPAGEiP10916

Proteomic databases

PaxDbiP10916
PeptideAtlasiP10916
PRIDEiP10916
ProteomicsDBi52678

Protocols and materials databases

DNASUi4633
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000228841; ENSP00000228841; ENSG00000111245
GeneIDi4633
KEGGihsa:4633

Organism-specific databases

CTDi4633
DisGeNETi4633
EuPathDBiHostDB:ENSG00000111245.14
GeneCardsiMYL2
GeneReviewsiMYL2
HGNCiHGNC:7583 MYL2
HPAiHPA019763
HPA039262
MalaCardsiMYL2
MIMi160781 gene
608758 phenotype
neXtProtiNX_P10916
OpenTargetsiENSG00000111245
Orphaneti2020 Congenital fiber-type disproportion myopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA31380
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0031 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00760000119196
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP10916
KOiK10351
OMAiIVTHRAE
OrthoDBiEOG091G0QF6
PhylomeDBiP10916
TreeFamiTF314218

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP10916

Miscellaneous databases

ChiTaRSiMYL2 human
GeneWikiiMYL2
GenomeRNAii4633
PROiPR:P10916
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111245 Expressed in 117 organ(s), highest expression level in myocardium
CleanExiHS_MYL2
ExpressionAtlasiP10916 baseline and differential
GenevisibleiP10916 HS

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13405 EF-hand_6, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMLRV_HUMAN
AccessioniPrimary (citable) accession number: P10916
Secondary accession number(s): Q16123
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 184 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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