MYL3 (myosin light chain 3)

2003-11-01 Affiliation

Identity

HGNC

MYL3

LOCATION

3p21.31

LOCUSID

4634

ALIAS

CMH8,MLC-lV/sb,MLC1SB,MLC1V,VLC1,VLCl

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4634
MIM: 160790
HGNC: 7584
Ensembl: ENSG00000160808

Variants:

dbSNP: 4634
ClinVar: 4634
TCGA: ENSG00000160808
COSMIC: MYL3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000160808	ENST00000292327	P08590
ENSG00000160808	ENST00000292327	A0A024R2Q5
ENSG00000160808	ENST00000395869	P08590
ENSG00000160808	ENST00000395869	A0A024R2Q5
ENSG00000160808	ENST00000431168	E9PGV7
ENSG00000160808	ENST00000653454	P08590
ENSG00000160808	ENST00000653454	A0A024R2Q5
ENSG00000160808	ENST00000654597	P08590
ENSG00000160808	ENST00000654597	A0A024R2Q5
ENSG00000160808	ENST00000662933	P08590
ENSG00000160808	ENST00000662933	A0A024R2Q5

Expression (GTEx)

500

1000

1500

2000

2500

3000

3500

4000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA162375571	ACTC1	Gene	DataAnnotation	associated
PA231	LMNA	Gene	DataAnnotation	associated
PA28707	GLA	Gene	DataAnnotation	associated
PA31351	MYBPC3	Gene	DataAnnotation	associated
PA31374	MYH7	Gene	DataAnnotation	associated
PA31380	MYL2	Gene	DataAnnotation	associated
PA33752	PRKAG2	Gene	DataAnnotation	associated
PA36636	TNNI3	Gene	DataAnnotation	associated
PA36638	TNNT2	Gene	DataAnnotation	associated
PA36690	TPM1	Gene	DataAnnotation	associated
PA443632	Cardiomyopathy, Dilated	Disease	DataAnnotation	associated
PA443633	Cardiomyopathy, Hypertrophic	Disease	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
18403758	2008	Shared genetic causes of cardiac hypertrophy in children and adults.	100
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
16199542	2005	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.	73
20359594	2010	Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.	65
20031618	2009	Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.	52
16754800	2006	Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.	36
11748309	2001	Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.	34
12404107	2002	Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.	33
19293840	2009	The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.	22
21823217	2011	Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.	19

Citation

Dessen P

MYL3 (myosin light chain 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41480/myl3