MYL2 (myosin light chain 2)

2003-11-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
CMH10,MLC-2s/v,MLC2
FUSION GENES

Other Information

Locus ID:

NCBI: 4633
MIM: 160781
HGNC: 7583
Ensembl: ENSG00000111245

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111245ENST00000228841P10916
ENSG00000111245ENST00000228841Q6IB42
ENSG00000111245ENST00000546404A0A590UK07
ENSG00000111245ENST00000548438G3V1V8
ENSG00000111245ENST00000663220A0A590UJU8

Expression (GTEx)

0
5000
10000
15000

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
Tight junctionKEGGko04530
Leukocyte transendothelial migrationKEGGko04670
Regulation of actin cytoskeletonKEGGko04810
Focal adhesionKEGGhsa04510
Tight junctionKEGGhsa04530
Leukocyte transendothelial migrationKEGGhsa04670
Regulation of actin cytoskeletonKEGGhsa04810
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162375571ACTC1GeneDataAnnotationassociated
PA231LMNAGeneDataAnnotationassociated
PA28707GLAGeneDataAnnotationassociated
PA31351MYBPC3GeneDataAnnotationassociated
PA31374MYH7GeneDataAnnotationassociated
PA31381MYL3GeneDataAnnotationassociated
PA33752PRKAG2GeneDataAnnotationassociated
PA36636TNNI3GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA36690TPM1GeneDataAnnotationassociated
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
184037582008Shared genetic causes of cardiac hypertrophy in children and adults.100
161995422005Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.73
203595942010Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.65
193450982009VE-Cadherin-mediated cell-cell interaction suppresses sprouting via signaling to MLC2 phosphorylation.57
248615532014Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.57
172446742007Proplatelet formation is regulated by the Rho/ROCK pathway.54
200316182009Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.52
189873032009Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.42
271608992016Confinement Sensing and Signal Optimization via Piezo1/PKA and Myosin II Pathways.36
121855842002Rho-kinase contributes to diphosphorylation of myosin II regulatory light chain in nonmuscle cells.35

Citation

Dessen P

MYL2 (myosin light chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41479/myl2