MYL3 (myosin light chain 3)

2003-11-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
CMH8,MLC-lV/sb,MLC1SB,MLC1V,VLC1,VLCl
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160808ENST00000292327P08590
ENSG00000160808ENST00000292327A0A024R2Q5
ENSG00000160808ENST00000395869P08590
ENSG00000160808ENST00000395869A0A024R2Q5
ENSG00000160808ENST00000431168E9PGV7
ENSG00000160808ENST00000653454P08590
ENSG00000160808ENST00000653454A0A024R2Q5
ENSG00000160808ENST00000654597P08590
ENSG00000160808ENST00000654597A0A024R2Q5
ENSG00000160808ENST00000662933P08590
ENSG00000160808ENST00000662933A0A024R2Q5

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000

Pathways

PathwaySourceExternal ID
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
PA31380MYL2GeneDataAnnotationassociated
PA33752PRKAG2GeneDataAnnotationassociated
PA36636TNNI3GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA36690TPM1GeneDataAnnotationassociated
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
365097202022Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.0
365097202022Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.0
332888802021Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.12
332888802021Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.12
306059042018A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.3
306059042018A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.3
264433742016Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.7
264433742016Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.7
218232172011Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.35
218232172011Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.35
203595942010Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.90
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203595942010Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.90
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
192938402009The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.29

Citation

Dessen P

MYL3 (myosin light chain 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41480/gene-fusions/favicon/favicon-16x16.png