MYL2 (myosin light chain 2)

Gene

• Entrez ID: 4633
• Gene name: Myosin light chain 2
• Gene symbol: MYL2
• Synonyms: CMH10, MFM12, MLC-2s/v, MLC2
• Chromosome: 12
• Chromosome location: 12q24.11
• Summary: 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 ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894363	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-pathogenic	Coding sequence variant, missense variant
rs104894368	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs104894369	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894370	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs111373423	A>G	Pathogenic	Splice donor variant
rs121913658	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs143139258	T>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199474808	G>A,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs199474813	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic, likely-pathogenic	Splice acceptor variant
rs199474814	C>T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs375703502	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516398	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs397516399	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516406	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs397516407	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516408	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs547860537	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587782965	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503296	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504425	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880944	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880947	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880948	C>A	Pathogenic	Splice donor variant
rs730880950	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880952	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs751392310	CCT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs786205430	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs863225117	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555258369	C>T	Likely-pathogenic, uncertain-significance	Missense variant, initiator codon variant
rs1566147422	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592798444	TTCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048671	hsa-miR-99a-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0003785	Function	Actin monomer binding	IDA	9180271
GO:0005509	Function	Calcium ion binding	IDA	11102452
GO:0005515	Function	Protein binding	IPI	11773029, 16555005, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	17043135
GO:0006942	Process	Regulation of striated muscle contraction	TAS	8673105
GO:0007507	Process	Heart development	ISS
GO:0008307	Function	Structural constituent of muscle	NAS	17885681
GO:0015629	Component	Actin cytoskeleton	IDA	17043135
GO:0016459	Component	Myosin complex	TAS	11102452
GO:0030016	Component	Myofibril	NAS	8287067
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030308	Process	Negative regulation of cell growth	IMP	15824735
GO:0031672	Component	A band	IEA
GO:0032036	Function	Myosin heavy chain binding	NAS	8287067
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	8673105
GO:0060047	Process	Heart contraction	ISS
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:0098735	Process	Positive regulation of the force of heart contraction	ISS

Other IDs

• MIM: 160781
• HGNC: 7583
• e!Ensembl: ENSG00000111245

Protein

• UniProt ID: P10916
• Protein 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)
• Protein function: 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).
• PDB: 5TBY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00036	EF-hand_1	28 → 56	EF hand	Domain

• Sequence:

  MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVN
  VKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVR
  EMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD

• Sequence length: 166