MYL2 (myosin light chain 2)

2003-11-01 Affiliation

Identity

HGNC

MYL2

LOCATION

12q24.11

LOCUSID

4633

ALIAS

CMH10,MLC-2s/v,MLC2

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: 4633
MIM: 160781
HGNC: 7583
Ensembl: ENSG00000111245

Variants:

dbSNP: 4633
ClinVar: 4633
TCGA: ENSG00000111245
COSMIC: MYL2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000111245	ENST00000228841	P10916
ENSG00000111245	ENST00000228841	Q6IB42
ENSG00000111245	ENST00000546404	A0A590UK07
ENSG00000111245	ENST00000548438	G3V1V8
ENSG00000111245	ENST00000663220	A0A590UJU8

Expression (GTEx)

5000

10000

15000

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
Focal adhesion	KEGG	ko04510
Tight junction	KEGG	ko04530
Leukocyte transendothelial migration	KEGG	ko04670
Regulation of actin cytoskeleton	KEGG	ko04810
Focal adhesion	KEGG	hsa04510
Tight junction	KEGG	hsa04530
Leukocyte transendothelial migration	KEGG	hsa04670
Regulation of actin cytoskeleton	KEGG	hsa04810
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
PA31381	MYL3	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
38474189	2024	Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.	0
38474189	2024	Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.	0
37488325	2023	FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.	1
37488325	2023	FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.	1
35177471	2022	Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.	19
35177471	2022	Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.	19
33784000	2021	Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.	23
33784000	2021	Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.	23
32004434	2020	Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.	6
32453731	2020	Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.	12
32004434	2020	Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.	6
32453731	2020	Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.	12
30365366	2019	Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.	10
30796699	2019	Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.	16
31467300	2019	Cardiac MLC2 kinase is localized to the Z-disc and interacts with α-actinin2.	7

Citation

Dessen P

MYL2 (myosin light chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41479/tumors-explorer/favicon/manifest.json