• Gene id: 4633

Gene Summary

• Gene Symbol: MYL2   Gene   UCSC   Ensembl
• Aliases: CMH10, MLC-2s/v, MLC2
• Gene name: myosin light chain 2
• Alternate names: myosin regulatory light chain 2, ventricular/cardiac muscle isoform, MLC-2, MLC-2v, RLC of myosin, cardiac myosin light chain 2, cardiac ventricular myosin light chain 2, myosin light chain 2, slow skeletal/ventricular muscle isoform, myosin, light chain 2, regu,
• Gene location: 12q24.11 (110920578: 110910844)     Exons: 7     NC_000012.12
• Gene summary(Entrez): Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventr
• OMIM: 607979

Protein Summary

• Protein general information: P10916  
  • Name: Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC 2) (MLC 2v) (Cardiac myosin light chain 2) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC 2s/v) (Ventricular myosin light chain 2)
  • Length: 166  
  • Mass: 18789
• Sequence:

  MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVNVKNEEIDEMIKEAPG
  PINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNL
  DYKNLVHIITHGEEKD

• Structural information:
  • Protein Domains: (24..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (94..12-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (130..16-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 5TBY
  • PDBsum: 5TBY
  • STRING: ENSP00000228841
• Other Databases: GeneCards:  MYL2  Malacards:  MYL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0006942	regulation of striated muscle contraction	TAS	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0055003	cardiac myofibril assembly	IEA	biological process
GO:0098735	positive regulation of the force of heart contraction	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0030016	myofibril	IEA	cellular component
GO:0042694	muscle cell fate specification	IEA	biological process
GO:0048747	muscle fiber development	IEA	biological process
GO:0060047	heart contraction	IEA	biological process
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0003785	actin monomer binding	IDA	molecular function
GO:0008307	structural constituent of muscle	NAS	molecular function
GO:0032036	myosin heavy chain binding	NAS	molecular function
GO:0015629	actin cytoskeleton	IDA	colocalizes with
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0055003	cardiac myofibril assembly	ISS	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0005856	cytoskeleton	IDA	cellular component
GO:0016459	myosin complex	TAS	cellular component
GO:0030016	myofibril	NAS	cellular component
GO:0030017	sarcomere	TAS	cellular component
GO:0060047	heart contraction	ISS	biological process
GO:0031672	A band	IEA	cellular component
GO:0097512	cardiac myofibril	IDA	cellular component
GO:0098735	positive regulation of the force of heart contraction	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007507	heart development	ISS	biological process
GO:0002026	regulation of the force of heart contraction	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04530	Tight junction
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04371	Apelin signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy

Diseases

Associated diseases	References
Hypertrophic cardiomyopathy	KEGG:H00292
Hypertrophic cardiomyopathy	KEGG:H00292
Familial hypertrophic cardiomyopathy	PMID:9535554
Familial hypertrophic cardiomyopathy	PMID:11748309
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881