MYL2 (myosin light chain 2)

Gene

• Entrez ID: 4633
• Gene name: Myosin light chain 2
• Gene symbol: MYL2
• Synonyms: CMH10, MFM12, MLC-2, MLC-2s/v, MLC-2v, 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 ventr

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
MIRT736741	hsa-miR-124-3p	qRT-PCR	32727232
MIRT1168601	hsa-miR-3675-5p	CLIP-seq
MIRT1168602	hsa-miR-4691-3p	CLIP-seq
MIRT1168603	hsa-miR-4694-3p	CLIP-seq
MIRT1168604	hsa-miR-4717-3p	CLIP-seq
MIRT1168605	hsa-miR-486-3p	CLIP-seq
MIRT1168606	hsa-miR-522	CLIP-seq

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 (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm st
• PDB: 5TBY, 8ACT, 8G4L
• 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