MYL7 (myosin light chain 7)

Gene

• Entrez ID: 58498
• Gene name: Myosin light chain 7
• Gene symbol: MYL7
• Synonyms (NCBI Gene): MYL2A, MYLC2A
• Chromosome: 7
• Chromosome location: 7p13

Transcription factors

Transcription factor	Regulation	Reference
JARID2	Unknown	18805276

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	NAS	1429676
GO:0030016	Component	Myofibril	IBA
GO:0031672	Component	A band	IDA	15621049
GO:0043197	Component	Dendritic spine	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048738	Process	Cardiac muscle tissue development	IBA
GO:0060047	Process	Heart contraction	IBA

Other IDs

• MIM: 613993
• HGNC: 21719
• e!Ensembl: ENSG00000106631

Protein

• UniProt ID: Q01449
• Protein name: Myosin regulatory light chain 2, atrial isoform (MLC-2a) (MLC2a) (Myosin light chain 2a) (Myosin regulatory light chain 7)
• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in adult atrial muscle. {ECO:0000269|PubMed:1429676}.
• Sequence:

  MASRKAGTRGKVAATKQAQRGSSNVFSMFEQAQIQEFKEAFSCIDQNRDGIICKADLRET
  YSQLGKVSVPEEELDAMLQEGKGPINFTVFLTLFGEKLNGTDPEEAILSAFRMFDPSGKG
  VVNKDEFKQLLLTQADKFSPAEVEQMFALTPMDLAGNIDYKSLCYIITHGDEKEE

• Sequence length: 175

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	18805276		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	31843279	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37569643	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	29223822		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28500252, 33135063	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	11583900	Stimulate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	18805276		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12083776, 15063784		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12083776, 15063784		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	18805276		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28500252	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11583900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	28500252	Associate	★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	24202401, 29661901		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	31372844		★☆☆☆☆ Found in Text Mining only