Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	4635
Gene name	Myosin light chain 4
Gene symbol	MYL4
Synonyms (NCBI Gene)	ALC1AMLCGT1PRO1957
Chromosome	17
Chromosome location	17q21.32
Summary	Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037778	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2685643	hsa-miR-3152-3p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	IMP	16675844
GO:0003785	Function	Actin monomer binding	IBA
GO:0003785	Function	Actin monomer binding	IDA	9180271
GO:0005509	Function	Calcium ion binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	IMP	9738905
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0031672	Component	A band	IBA
GO:0031672	Component	A band	IMP	14985854
GO:0032038	Function	Myosin II heavy chain binding	NAS	16675844
GO:0051015	Function	Actin filament binding	IMP	9738905
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IMP	14985854, 16675844

MIM	HGNC	e!Ensembl
160770	7585	ENSG00000198336

P12829

Protein name

Myosin light chain 4 (Myosin light chain 1, embryonic muscle/atrial isoform) (Myosin light chain alkali GT-1 isoform)

Protein function

Regulatory light chain of myosin. Does not bind calcium.

Family and domains

Sequence

MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEEFKEAF
SLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEEMNVKMLDFETFLPIL
QHISRNKEQGTYEDFVEGLRVFDKESNGTVMGAELRHVLATLGEKMTEAEVEQLLAGQED
ANGCINYEAFVKHIMSG

Sequence length

197

Interactions

View interactions

200

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial fibrillation, familial, 18	Likely pathogenic; Pathogenic	rs769405762, rs1253171024, rs777913899, rs2547600455, rs775042268, rs2547598455, rs886037778, rs906038468, rs770372675	RCV001973754 RCV003076988 RCV003084472 RCV002922428 RCV002918866 RCV003013246 RCV000415520 RCV003872140 RCV000555962 RCV000803489
Familial atrial fibrillation	Pathogenic	rs886037778	RCV000240709

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
MYL4-related disorder	Uncertain significance; Benign; Likely benign	rs745655031, rs758768590, rs143234546, rs16941677, rs150593274, rs376118927, rs114024716, rs2071439	RCV003409894 RCV003410475 RCV003962611 RCV003935551 RCV003945327 RCV003945328 RCV003915645 RCV003948243

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	23535507
Aortic Valve Insufficiency	Stimulate	1533180
Aortic Valve Stenosis	Stimulate	1533180
Atrial Fibrillation	Associate	29050564, 31406021, 35874900
Cardiomyopathies	Associate	31406021
Cardiomyopathy Hypertrophic	Associate	31481666
Cardiomyopathy Hypertrophic Familial	Associate	1533180
Colorectal Neoplasms	Associate	9748578
Double Outlet Right Ventricle	Associate	8755658
Heart Defects Congenital	Associate	8755658
Heart Diseases	Associate	23535507, 34490485
Hypertension	Associate	31406021
Iron Overload	Associate	34490485
Neoplasms	Stimulate	9748578
Pulmonary Subvalvular Stenosis	Associate	8755658
Tetralogy of Fallot	Associate	8755658
Thromboembolism	Associate	35874900

MYL4 (myosin light chain 4)